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Zeitschriftenartikel
Samra, Kiran 
ORCID: https://orcid.org/0000-0002-3105-7099; Peakman, Georgia; MacDougall, Amy M.; Bouzigues, Arabella; Greaves, Caroline V.; Convery, Rhian S.; Swieten, John C. van; Jiskoot, Lize; Seelaar, Harro; Moreno, Fermin; Sanchez‐Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Mendonça, Alexandre de; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Ber, Isabelle Le; Tiraboschi, Pietro; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan D. ORCID: https://orcid.org/0000-0002-6155-8417 und Russell, Lucy L.
(2024):
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
In: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, Bd. 16, Nr. 2, e12571
[PDF, 928kB]
ORCID: https://orcid.org/0000-0002-3105-7099; Peakman, Georgia; MacDougall, Amy M.; Bouzigues, Arabella; Greaves, Caroline V.; Convery, Rhian S.; Swieten, John C. van; Jiskoot, Lize; Seelaar, Harro; Moreno, Fermin; Sanchez‐Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Mendonça, Alexandre de; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Ber, Isabelle Le; Tiraboschi, Pietro; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan D. ORCID: https://orcid.org/0000-0002-6155-8417 und Russell, Lucy L.
(2024):
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
In: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, Bd. 16, Nr. 2, e12571
[PDF, 928kB]
Pasternak, Maurice ORCID: https://orcid.org/0000-0003-0647-172X; Mirza, Saira S.; Luciw, Nicholas; Mutsaerts, Henri J. M. M.; Petr, Jan; Thomas, David; Cash, David; Bocchetta, Martina; Tartaglia, Maria Carmela; Mitchell, Sara B.; Black, Sandra E.; Freedman, Morris; Tang‐Wai, David; Rogaeva, Ekaterina; Russell, Lucy L.; Bouzigues, Arabella; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Laforce, Robert; Tiraboschi, Pietro; Borroni, Barbara; Galimberti, Daniela; Rowe, James B.; Graff, Caroline; Finger, Elizabeth; Sorbi, Sandro; de Mendonça, Alexandre; Butler, Chris; Gerhard, Alex; Sanchez‐Valle, Raquel; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; Levin, Johannes; Otto, Markus; Santana, Isabel; Strafella, Antonio P.; MacIntosh, Bradley J.; Rohrer, Jonathan D. und Masellis, Mario
(2024):
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
In: Alzheimer's & Dementia, Bd. 20, Nr. 5: S. 3525-3542
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-0647-172X; Mirza, Saira S.; Luciw, Nicholas; Mutsaerts, Henri J. M. M.; Petr, Jan; Thomas, David; Cash, David; Bocchetta, Martina; Tartaglia, Maria Carmela; Mitchell, Sara B.; Black, Sandra E.; Freedman, Morris; Tang‐Wai, David; Rogaeva, Ekaterina; Russell, Lucy L.; Bouzigues, Arabella; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Laforce, Robert; Tiraboschi, Pietro; Borroni, Barbara; Galimberti, Daniela; Rowe, James B.; Graff, Caroline; Finger, Elizabeth; Sorbi, Sandro; de Mendonça, Alexandre; Butler, Chris; Gerhard, Alex; Sanchez‐Valle, Raquel; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; Levin, Johannes; Otto, Markus; Santana, Isabel; Strafella, Antonio P.; MacIntosh, Bradley J.; Rohrer, Jonathan D. und Masellis, Mario
(2024):
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
In: Alzheimer's & Dementia, Bd. 20, Nr. 5: S. 3525-3542
[PDF, 1MB]
Benussi, Alberto; Premi, Enrico; Grassi, Mario; Alberici, Antonella; Cantoni, Valentina; Gazzina, Stefano; Archetti, Silvana; Gasparotti, Roberto; Fumagalli, Giorgio G.; Bouzigues, Arabella; Russell, Lucy L.; Samra, Kiran; Cash, David M.; Bocchetta, Martina; Todd, Emily G.; Convery, Rhian S.; Swift, Imogen; Sogorb-Esteve, Aitana; Heller, Carolin; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Jr Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; Mendonca, Alexandre; Tiraboschi, Pietro; Butler, Chris R.; Santana, Isabel; Gerhard, Alexander; Le Ber, Isabelle; Pasquier, Florence; Ducharme, Simon; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Padovani, Alessandro; Rohrer, Jonathan D. und Borroni, Barbara
(2024):
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia.
In: Alzheimers Research & Therapy, Bd. 16, Nr. 1, 10
[PDF, 1MB]
Traschuetz, Andreas; Fleszar, Zofia; Hengel, Holger; Klockgether, Thomas; Erdlenbruch, Friedrich; Falkenburger, Bjoern H.; Klopstock, Thomas; Oztop-Cakmak, Ozgur; Pedroso, Jose Luiz; Santorelli, Filippo M.; Schoels, Ludger und Synofzik, Matthis
(2024):
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
In: Movement Disorders
[PDF, 772kB]
Upadhyay, Neeraj; Spottke, Annika; Schneider, Anja; Hoffmann, Daniel C.; Frommann, Ingo; Ballarini, Tommaso; Fliessbach, Klaus; Bender, Benjamin; Heekeren, Hauke R.; Haynes, John Dylan; Ewers, Michael; Duezel, Emrah; Glanz, Wenzel; Dobisch, Laura; Buerger, Katharina; Janowitz, Daniel; Levin, Johannes; Danek, Adrian; Teipel, Stefan; Kilimann, Ingo; Synofzik, Matthis; Wilke, Carlo; Peters, Oliver; Preis, Lukas; Priller, Josef; Spruth, Eike Jakob; Jessen, Frank und Boecker, Henning
(2024):
Fronto-striatal alterations correlate with apathy severity in behavioral variant frontotemporal dementia.
In: Brain Imaging and Behavior, Bd. 18, Nr. 1: S. 66-72
[PDF, 934kB]
Hayek, Dayana; Ziegler, Gabriel; Kleineidam, Luca; Brosseron, Frederic; Nemali, Aditya; Vockert, Niklas; Ravichandran, Kishore A.; Betts, Matthew J.; Peters, Oliver; Schneider, Luisa-Sophie; Wang, Xiao; Priller, Josef; Altenstein, Slawek; Schneider, Anja; Fliessbach, Klaus; Wiltfang, Jens; Bartels, Claudia; Rostamzadeh, Ayda; Glanz, Wenzel; Buerger, Katharina; Janowitz, Daniel; Perneczky, Robert; Rauchmann, Boris-Stephan; Teipel, Stefan; Kilimann, Ingo; Laske, Christoph; Mengel, David; Synofzik, Matthis; Munk, Matthias H.; Spottke, Annika; Roy, Nina; Roeske, Sandra; Kuhn, Elizabeth; Ramirez, Alfredo; Dobisch, Laura; Schmid, Matthias; Berger, Moritz; Wolfsgruber, Steffen; Yakupov, Renat; Hetzer, Stefan; Dechent, Peter; Ewers, Michael; Scheffler, Klaus; Schott, Bjoern H.; Schreiber, Stefanie; Orellana, Adelina; de Rojas, Itziar; Marquie, Marta; Boada, Merce; Sotolongo, Oscar; Gonzalez, Pablo Garcia; Puerta, Raquel; Duezel, Emrah; Jessen, Frank; Wagner, Michael; Ruiz, Augustin; Heneka, Michael T. und Maass, Anne
(2024):
Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition.
In: Molecular Psychiatry
[PDF, 3MB]
Bocchetta, Martina; Todd, Emily G.; Bouzigues, Arabella; Cash, David M.; Nicholas, Jennifer M.; Convery, Rhian S.; Russell, Lucy L.; Thomas, David L.; Malone, Ian B.; Iglesias, Juan Eugenio; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence und Rohrer, Jonathan D.
(2023):
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort.
In: Brain Communications, Bd. 5, Nr. 2, fcad061
[PDF, 2MB]
Brosseron, Frederic; Maass, Anne; Kleineidam, Luca; Ravichandran, Kishore Aravind; Kolbe, Carl-Christian; Wolfsgruber, Steffen; Santarelli, Francesco; Häsler, Lisa M.; McManus, Róisín; Ising, Christina; Röske, Sandra; Peters, Oliver; Cosma, Nicoleta-Carmen; Schneider, Luisa-Sophie; Wang, Xiao; Priller, Josef; Spruth, Eike J.; Altenstein, Slawek; Schneider, Anja; Fliessbach, Klaus; Wiltfang, Jens; Schott, Björn H.; Buerger, Katharina; Janowitz, Daniel; Dichgans, Martin ORCID: https://orcid.org/0000-0002-0654-387X; Perneczky, Robert; Rauchmann, Boris-Stephan; Teipel, Stefan; Kilimann, Ingo; Görß, Doreen; Laske, Christoph; Munk, Matthias H.; Düzel, Emrah; Yakupow, Renat; Dobisch, Laura; Metzger, Coraline D.; Glanz, Wenzel; Ewers, Michael; Dechent, Peter; Haynes, John Dylan; Scheffler, Klaus; Roy, Nina; Rostamzadeh, Ayda; Spottke, Annika; Ramirez, Alfredo; Mengel, David; Synofzik, Matthis; Jucker, Mathias; Latz, Eicke; Jessen, Frank; Wagner, Michael und Heneka, Michael T.
(2023):
Serum IL-6, sAXL, and YKL-40 as systemic correlates of reduced brain structure and function in Alzheimer’s disease: results from the DELCODE study.
In: Alzheimer's Research & Therapy
15:13
[PDF, 6MB]
ORCID: https://orcid.org/0000-0002-0654-387X; Perneczky, Robert; Rauchmann, Boris-Stephan; Teipel, Stefan; Kilimann, Ingo; Görß, Doreen; Laske, Christoph; Munk, Matthias H.; Düzel, Emrah; Yakupow, Renat; Dobisch, Laura; Metzger, Coraline D.; Glanz, Wenzel; Ewers, Michael; Dechent, Peter; Haynes, John Dylan; Scheffler, Klaus; Roy, Nina; Rostamzadeh, Ayda; Spottke, Annika; Ramirez, Alfredo; Mengel, David; Synofzik, Matthis; Jucker, Mathias; Latz, Eicke; Jessen, Frank; Wagner, Michael und Heneka, Michael T.
(2023):
Serum IL-6, sAXL, and YKL-40 as systemic correlates of reduced brain structure and function in Alzheimer’s disease: results from the DELCODE study.
In: Alzheimer's Research & Therapy
15:13
[PDF, 6MB]
Samra, Kiran; Macdougall, Amy; Peakman, Georgia; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline; Convery, Rhian S.; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; de Mendonca, Alexandre; Butler, Christopher R.; Gerhard, Alexander; Ducharme, Simon; Le Ber, Isabelle; Tiraboschi, Pietro; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan D. und Russell, Lucy L.
(2023):
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 94, Nr. 5: S. 357-368
[PDF, 3MB]
Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline; Convery, Rhian S.; Hardy, Chris; van Swieten, John C.; Seelaar, Harro; Jiskoot, Lize C.; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; de Mendonca, Alexandre; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Le Ber, Isabelle; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Warren, Jason D.; Rohrer, Jonathan D. und Russell, Lucy L.
(2023):
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia.
In: Brain Communications, Bd. 5, Nr. 2, fcad036
[PDF, 6MB]
Premi, Enrico; Pengo, Marta; Mattioli, Irene; Cantoni, Valentina; Dukart, Juergen; Gasparotti, Roberto; Buratti, Emanuele; Padovani, Alessandro; Bocchetta, Martina; Todd, Emily G.; Bouzigues, Arabella; Cash, David M.; Convery, Rhian S.; Russell, Lucy L.; Foster, Phoebe; Thomas, David L.; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce Jr, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Tsvetanov, Kamen A.; Vandenberghe, Rik; Finger, Elizabeth; Tiraboschi, Pietro; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Rohrer, Jonathan D. und Borroni, Barbara
(2023):
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study.
In: Neurobiology of Disease, Bd. 179, 106068
[PDF, 595kB]
Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline; Convery, Rhian S.; van Swieten, John C.; Jiskoot, Lize; Seelaar, Harro; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; de Mendonca, Alexandre; Butler, Chris R.; Gerhard, Alex; Ducharme, Simon; Le Ber, Isabelle; Tiraboschi, Pietro; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan D. und Russell, Lucy L.
(2023):
Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.
In: Journal of the Neurological Sciences, Bd. 451, 120711
[PDF, 2MB]
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis und Durr, Alexandra
(2023):
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
In: American Journal of Human Genetics, Bd. 110, Nr. 7:
1098-+
Traschuetz, Andreas; Adarmes-Gomez, Astrid D.; Anheim, Mathieu; Baets, Jonathan; Falkenburger, Bjoern H.; Gburek-Augustat, Janina; Doss, Sarah; Kamm, Christoph; Klivenyi, Peter; Grobe-Einsler, Marcus; Klopstock, Thomas; Minnerop, Martina; Munchau, Alexander; Pane, Chiara; Renaud, Mathilde; Santorelli, Filippo M.; Schoels, Ludger; Timmann, Dagmar; Vielhaber, Stefan; Haack, Tobias B.; van de Warrenburg, Bart P.; Zanni, Ginevra und Synofzik, Matthis
(2023):
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
In: Movement Disorders, Bd. 38, Nr. 6: S. 1109-1112
[PDF, 883kB]
Oender, Demet; Faber, Jennifer; Wilke, Carlo; Schaprian, Tamara; Lakghomi, Asadeh; Mengel, David; Schoels, Ludger; Traschuetz, Andreas; Fleszar, Zofia; Dufke, Claudia; Vielhaber, Stefan; Machts, Judith; Giordano, Ilaria; Grobe-Einsler, Marcus; Klopstock, Thomas; Stendel, Claudia; Boesch, Sylvia; Nachbauer, Wolfgang; Timmann-Braun, Dagmar; Thieme, Andreas Gustafsson; Kamm, Christoph; Dudesek, Ales; Tallaksen, Chantal; Wedding, Iselin; Filla, Alessandro; Schmid, Matthias; Synofzik, Matthis und Klockgether, Thomas
(2023):
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
In: Movement Disorders, Bd. 38, Nr. 4: S. 654-664
[PDF, 913kB]
Bussy, Aurelie P.; Levy, Jake P.; Best, Tristin; Patel, Raihaan; Cupo, Lani; Van Langenhove, Tim; Nielsen, Jorgen E.; Pijnenburg, Yolande; Waldo, Maria Landqvist M.; Remes, Anne M. L.; Schroeter, Matthias L.; Santana, Isabel; Pasquier, Florence; Otto, Markus; Danek, Adrian; Levin, Johannes; Le Ber, Isabelle; Vandenberghe, Rik; Synofzik, Matthis; Moreno, Fermin; de Mendonca, Alexandre; Sanchez-Valle, Raquel; Laforce, Robert; Langheinrich, Tobias; Gerhard, Alexander; Graff, Caroline R.; Butler, Chris R.; Sorbi, Sandro; Jiskoot, Lize; Seelaar, Harro C.; van Swieten, John C.; Finger, Elizabeth; Tartaglia, Maria Carmela; Masellis, Mario; Tiraboschi, Pietro; Galimberti, Daniela; Borroni, Barbara B.; Rowe, James B.; Bocchetta, Martina D.; Rohrer, Jonathan D. A.; Devenyi, Gabriel A.; Chakravarty, M. Mallar und Ducharme, Simon
(2023):
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia.
In: Human Brain Mapping, Bd. 44, Nr. 7: S. 2684-2700
[PDF, 11MB]
Traschuetz, Andreas D.; Adarmes-Gomez, Astrid; Anheim, Mathieu; Baets, Jonathan; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Doss, Sarah; Hanagasi, Hasmet A.; Kamm, Christoph; Klivenyi, Peter; Klockgether, Thomas; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde M.; Santorelli, Filippo; Schoels, Ludger; Thieme, Andreas; Vielhaber, Stefan P.; van de Warrenburg, Bart; Zanni, Ginevra; Hilgers, Ralf-Dieter und Synofzik, Matthis
(2023):
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
In: Annals of Neurology, Bd. 94, Nr. 3: S. 470-485
[PDF, 5MB]
Jiskoot, Lize C.; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Greaves, Caroline V.; Bocchetta, Martina; Poos, Jackie M.; Seelaar, Harro; Giannini, Lucia A. A.; van Swieten, John C.; van Minkelen, Rick; Pijnenburg, Yolande A. L.; Rowe, James B.; Borroni, Barbara; Galimberti, Daniela; Masellis, Mario; Tartaglia, Carmela; Finger, Elizabeth; Butler, Chris R.; Graff, Caroline; Laforce Jr, Robert; Sanchez-Valle, Raquel; de Mendonca, Alexandre; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; le Ber, Isabelle; Levin, Johannes; Otto, Markus; Pasquier, Florence; Santana, Isabel; Cash, David M.; Thomas, David und Rohrer, Jonathan D.
(2023):
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.
In: Journal of the Neurological Sciences, Bd. 446, 120590
[PDF, 3MB]
Roeben, Benjamin; Bueltmann, Eva; Stendel, Claudia und Synofzik, Matthis
(2022):
Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia.
In: Annals of Neurology, Bd. 91, Nr. 3: S. 438-440
Finger, Elizabeth; Malik, Rubina; Bocchetta, Martina; Coleman, Kristy; Graff, Caroline; Borroni, Barbara; Masellis, Mario; Laforce, Robert; Greaves, Caroline V.; Russell, Lucy L.; Convery, Rhian S.; Bouzigues, Arabella; Cash, David M.; Otto, Markus; Synofzik, Matthis; Rowe, James B.; Galimberti, Daniela; Tiraboschi, Pietro; Bartha, Robert; Shoesmith, Christen; Tartaglia, Maria Carmela; Swieten, John C. van; Seelaar, Harro; Jiskoot, Lize C.; Sorbi, Sandro; Butler, Chris R.; Gerhard, Alexander; Sanchez-Valle, Raquel; de Mendonca, Alexandre; Moreno, Fermin; Vandenberghe, Rik; Le Ber, Isabelle; Levin, Johannes; Pasquier, Florence; Santana, Isabel; Rohrer, Jonathan D. und Ducharme, Simon
(2022):
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
In: Brain, Bd. 146, Nr. 5: S. 2120-2131
[PDF, 571kB]
Shafiei, Golia; Bazinet, Vincent; Dadar, Mahsa; Manera, Ana L.; Collins, D. Louis; Dagher, Alain; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Jiskoot, Lize C.; Seelaar, Harro; Swieten, John C. van; Rohrer, Jonathan D.; Misic, Bratislav und Ducharme, Simon
(2022):
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia.
In: Brain, Bd. 146, Nr. 1: S. 321-336
[PDF, 1MB]
Brosseron, Frederic; Maass, Anne; Kleineidam, Luca; Ravichandran, Kishore Aravind; Gonzalez, Pablo Garcia; McManus, Roisin M.; Ising, Christina; Santarelli, Francesco; Kolbe, Carl-Christian; Haesler, Lisa M.; Wolfsgruber, Steffen; Marquie, Marta; Boada, Merce; Orellana, Adelina; de Rojas, Itziar; Roeske, Sandra; Peters, Oliver; Cosma, Nicoleta-Carmen; Cetindag, Arda; Wang, Xiao; Priller, Josef; Spruth, Eike J.; Altenstein, Slawek; Schneider, Anja; Fliessbach, Klaus; Wiltfang, Jens; Schott, Bjorn H.; Buerger, Katharina; Janowitz, Daniel; Dichgans, Martin ORCID: https://orcid.org/0000-0002-0654-387X; Perneczky, Robert; Rauchmann, Boris-Stephan; Teipel, Stefan; Kilimann, Ingo; Goerss, Doreen; Laske, Christoph; Munk, Matthias H.; Duzel, Emrah; Yakupov, Renat; Dobisch, Laura; Metzger, Coraline D.; Glanz, Wenzel; Ewers, Michael; Dechent, Peter; Haynes, John Dylan; Scheffler, Klaus; Roy, Nina; Rostamzadeh, Ayda; Teunissen, Charlotte E.; Marchant, Natalie L.; Spottke, Annika; Jucker, Mathias; Latz, Eicke; Wagner, Michael; Mengel, David; Synofzik, Matthis; Jessen, Frank; Ramirez, Alfredo; Ruiz, Agustin und Heneka, Michael T.
(2022):
Soluble TAM receptors sAXL and sTyro3 predict structural and functional protection in Alzheimer's disease.
In: Neuron, Bd. 110, Nr. 6: S. 1009-1022
ORCID: https://orcid.org/0000-0002-0654-387X; Perneczky, Robert; Rauchmann, Boris-Stephan; Teipel, Stefan; Kilimann, Ingo; Goerss, Doreen; Laske, Christoph; Munk, Matthias H.; Duzel, Emrah; Yakupov, Renat; Dobisch, Laura; Metzger, Coraline D.; Glanz, Wenzel; Ewers, Michael; Dechent, Peter; Haynes, John Dylan; Scheffler, Klaus; Roy, Nina; Rostamzadeh, Ayda; Teunissen, Charlotte E.; Marchant, Natalie L.; Spottke, Annika; Jucker, Mathias; Latz, Eicke; Wagner, Michael; Mengel, David; Synofzik, Matthis; Jessen, Frank; Ramirez, Alfredo; Ruiz, Agustin und Heneka, Michael T.
(2022):
Soluble TAM receptors sAXL and sTyro3 predict structural and functional protection in Alzheimer's disease.
In: Neuron, Bd. 110, Nr. 6: S. 1009-1022
Gazzina, Stefano; Grassi, Mario; Premi, Enrico; Alberici, Antonella; Benussi, Alberto; Archetti, Silvana; Gasparotti, Roberto; Bocchetta, Martina; Cash, David M.; Todd, Emily G.; Peakman, Georgia; Convery, Rhian S.; Swieten, John C. van; Jiskoot, Lize C.; Seelaar, Harro; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Butler, Chris R.; Santana, Isabel; Gerhard, Alexander; Le Ber, Isabelle; Pasquier, Florence; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Sorbi, Sandro; Otto, Markus; Rohrer, Jonathan D. und Borroni, Barbara
(2022):
Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia.
In: Neurobiology of Aging, Bd. 114: S. 94-104
Foster, Phoebe H.; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Bouzigues, Arabella; Greaves, Caroline V.; Bocchetta, Martina; Cash, David M.; Swieten, John C. van; Jiskoot, Lize C.; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; de Mendonca, Alexandre; Butler, Chris R.; Gerhard, Alex; Ducharme, Simon; Le Ber, Isabelle; Tagliavini, Fabrizio; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Danek, Adrian; Otto, Markus; Sorbi, Sandro und Rohrer, Jonathan D.
(2022):
Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort.
In: Cortex, Bd. 150: S. 12-28
[PDF, 1MB]
Cabaraux, Pierre; Agrawal, Sunil K.; Cai, Huaying; Calabro, Rocco Salvatore; Carlo, Casali; Loic, Damm; Sarah, Doss; Habas, Christophe; Horn, Anja K. E.; Ilg, Winfried; Louis, Elan D.; Mitoma, Hiroshi; Monaco, Vito; Petracca, Maria; Ranavolo, Alberto; Rao, Ashwini K.; Ruggieri, Serena; Schirinzi, Tommaso; Serrao, Mariano; Summa, Susanna; Strupp, Michael; Surgent, Olivia; Synofzik, Matthis; Tao, Shuai; Terasi, Hiroo; Torres-Russotto, Diego; Travers, Brittany; Roper, Jaimie A. und Manto, Mario
(2022):
Consensus Paper: Ataxic Gait.
In: Cerebellum, Bd. 22: S. 394-430
Perez-Millan, Agnes; Borrego-Ecija, Sergi; Swieten, John C. van; Jiskoot, Lize; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Mendonca, Alexandre de; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Le Ber, Isabelle; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Tiraboschi, Pietro; Seelaar, Harro; Langheinrich, Tobias; Rohrer, Jonathan D.; Sala-Llonch, Roser und Sanchez-Valle, Raquel
(2022):
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
In: Journal of Neurology, Bd. 270, Nr. 3: S. 1573-1586
Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B. und Deschauer, Marcus
(2022):
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin.
In: Movement Disorders, Bd. 37, Nr. 8: S. 1707-1718
[PDF, 7MB]
Vondel, Liedewei van de; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli und Baets, Jonathan
(2022):
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
In: Movement Disorders, Bd. 37, Nr. 6: S. 1175-1186
[PDF, 1MB]
McCarthy, Jillian; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Jiskoot, Lize C.; Seelaar, Harro; Swieten, John C. van; Rohrer, Jonathan D.; Iturria-Medina, Yasser und Ducharme, Simon
(2022):
Data-driven staging of genetic frontotemporal dementia using multi-modal MRI.
In: Human Brain Mapping, Bd. 43, Nr. 6: S. 1821-1835
[PDF, 1MB]
Whiteside, David J.; Malpetti, Maura; Jones, P. Simon; Ghosh, Boyd C. P.; Coyle-Gilchrist, Ian; Swieten, John C. van; Seelaar, Harro; Jiskoot, Lize; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Butler, Chris R.; Santana, Isabel; Le Ber, Isabelle; Gerhard, Alexander; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Otto, Markus; Sorbi, Sandro; Pasquier, Florence; Bouzigues, Arabella; Russell, Lucy L.; Rohrer, Jonathan D.; Rowe, James B. und Rittman, Timothy
(2022):
Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia.
In: Alzheimer's & Dementia, Bd. 19, Nr. 5: S. 1947-1962
[PDF, 1MB]
Nelson, Annabel; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Bouzigues, Arabella; Greaves, Caroline V.; Bocchetta, Martina; Cash, David M.; Swieten, John C.; Jiskoot, Lize; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Mendonca, Alexandre; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Le Ber, Isabelle; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro und Rohrer, Jonathan D.
(2022):
The CBI-R detects early behavioural impairment in genetic frontotemporal dementia.
In: Annals of Clinical and Translational Neurology, Bd. 9, Nr. 5: S. 644-658
[PDF, 357kB]
Ende, Emma L. van der; Heller, Carolin; Sogorb-Esteve, Aitana; Swift, Imogen J.; McFall, David; Peakman, Georgia; Bouzigues, Arabella; Poos, Jackie M.; Jiskoot, Lize C.; Panman, Jessica L.; Papma, Janne M.; Meeter, Lieke H.; Dopper, Elise G. P.; Bocchetta, Martina; Todd, Emily; Cash, David; Graff, Caroline; Synofzik, Matthis; Moreno, Fermin; Finger, Elizabeth; Sanchez-Valle, Raquel; Vandenberghe, Rik; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Butler, Chris; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian ORCID: https://orcid.org/0000-0001-8857-5383; Levin, Johannes; Pijnenburg, Yolande A. L.; Otto, Markus; Borroni, Barbara; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Galimberti, Daniela; Sorbi, Sandro; Zetterberg, Henrik; Huang, Eric; Swieten, John C. van; Rohrer, Jonathan D. und Seelaar, Harro
(2022):
Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study.
In: Journal of Neuroinflammation, Bd. 19, Nr. 1, 217
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-8857-5383; Levin, Johannes; Pijnenburg, Yolande A. L.; Otto, Markus; Borroni, Barbara; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Galimberti, Daniela; Sorbi, Sandro; Zetterberg, Henrik; Huang, Eric; Swieten, John C. van; Rohrer, Jonathan D. und Seelaar, Harro
(2022):
Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study.
In: Journal of Neuroinflammation, Bd. 19, Nr. 1, 217
[PDF, 1MB]
Koutsouleris, Nikolaos; Pantelis, Christos; Velakoulis, Dennis; McGuire, Philip; Dwyer, Dominic B.; Urquijo-Castro, Maria-Fernanda; Paul, Riya; Sen, Dong; Popovic, David; Oeztuerk, Oemer; Kambeitz, Joseph; Salokangas, Raimo K. R.; Hietala, Jarmo; Bertolino, Alessandro; Brambilla, Paolo; Upthegrove, Rachel; Wood, Stephen J.; Lencer, Rebekka; Borgwardt, Stefan; Maj, Carlo; Nothen, Markus; Degenhardt, Franziska; Polyakova, Maryna; Mueller, Karsten; Villringer, Arno; Danek, Adrian; Fassbender, Klaus; Fliessbach, Klaus; Jahn, Holger; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Anderl-Straub, Sarah; Prudlo, Johannes; Synofzik, Matthis; Wiltfang, Jens; Riedl, Lina; Diehl-Schmid, Janine; Otto, Markus; Meisenzahl, Eva; Falkai, Peter und Schroeter, Matthias L.
(2022):
Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning Dementia Praecox Revisited.
In: JAMA Psychiatry, Bd. 79, Nr. 9: S. 907-919
Poos, Jackie M.; Moore, Katrina M.; Nicholas, Jennifer; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Jiskoot, Lize C.; Ende, Emma van der; Berg, Esther van den; Papma, Janne M.; Seelaar, Harro; Pijnenburg, Yolande A. L.; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; de Mendonca, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Le Ber, Isabel; Pasquier, Florence; Swieten, John C. van und Rohrer, Jonathan D.
(2022):
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog.
In: Alzheimer's Research & Therapy, Bd. 14, Nr. 1, 10
[PDF, 1MB]
Wilson, Katherine M.; Katona, Eszter; Glaria, Idoia; Carcole, Mireia; Swift, Imogen J.; Sogorb-Esteve, Aitana; Heller, Carolin; Bouzigues, Arabella; Heslegrave, Amanda J.; Keshavan, Ashvini; Knowles, Kathryn; Patil, Saurabh; Mohapatra, Susovan; Liu, Yuanjing; Goyal, Jaya; Sanchez-Valle, Raquel; Laforce, Robert; Synofzik, Matthis; Rowe, James B.; Finger, Elizabeth; Vandenberghe, Rik; Butler, Christopher R.; Gerhard, Alexander; Van Swieten, John C.; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; de Mendonca, Alexandre; Masellis, Mario; Tartaglia, M. Carmela; Otto, Markus; Graff, Caroline; Ducharme, Simon; Schott, Jonathan M.; Malaspina, Andrea; Zetterberg, Henrik; Boyanapalli, Ramakrishna; Rohrer, Jonathan D. und Isaacs, Adrian M.
(2022):
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
In: Journal of Neurology Neurosurgery and Psychiatry
[PDF, 2MB]
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.; Swieten, John C. van; Seelaar, Harro; Jiskoot, Lize; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Mendonca, Alexandre de; Butler, Christopher R.; Gerhard, Alexander; Ducharme, Simon; Le Ber, Isabelle; Tiraboschi, Pietro; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan D. und Russell, Lucy L.
(2022):
Language impairment in the genetic forms of behavioural variant frontotemporal dementia.
In: Journal of Neurology, Bd. 270, Nr. 4: S. 1976-1988
Samra, Kiran; MacDougall, Amy M.; Peakman, Georgia; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.; Swieten, John C. van; Jiskoot, Lize; Seelaar, Harro; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Mendonca, Alexandre de; Butler, Chris R.; Gerhard, Alexander; Ducharme, Simon; Le Ber, Isabelle; Tiraboschi, Pietro; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan D. und Russell, Lucy L.
(2022):
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
In: Journal of Neurology, Bd. 270, Nr. 3: S. 1466-1477
[PDF, 751kB]
Bouzigues, Arabella; Russell, Lucy L.; Peakman, Georgia; Bocchetta, Martina; Greaves, Caroline V.; Convery, Rhian S.; Todd, Emily; Rowe, James B.; Borroni, Barbara; Galimberti, Daniela; Tiraboschi, Pietro; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Swieten, John C. van; Seelaar, Harro; Jiskoot, Lize; Sorbi, Sandro; Butler, Chris R.; Graff, Caroline; Gerhard, Alexander; Langheinrich, Tobias; Laforce, Robert; Sanchez-Valle, Raquel; de Mendonca, Alexandre; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; Le Ber, Isabelle; Levin, Johannes; Danek, Adrian ORCID: https://orcid.org/0000-0001-8857-5383; Otto, Markus; Pasquier, Florence; Santana, Isabel und Rohrer, Jonathan D.
(2022):
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.
In: Journal of Neurology, Bd. 269, Nr. 8: S. 4322-4332
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-8857-5383; Otto, Markus; Pasquier, Florence; Santana, Isabel und Rohrer, Jonathan D.
(2022):
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.
In: Journal of Neurology, Bd. 269, Nr. 8: S. 4322-4332
[PDF, 1MB]
Woollacott, Ione O. C.; Swift, Imogen J.; Sogorb-Esteve, Aitana; Heller, Carolin; Knowles, Kathryn; Bouzigues, Arabella; Russell, Lucy L.; Peakman, Georgia; Greaves, Caroline V.; Convery, Rhian; Heslegrave, Amanda; Rowe, James B.; Borroni, Barbara; Galimberti, Daniela; Tiraboschi, Pietro; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Swieten, John C. van; Seelaar, Harro; Jiskoot, Lize; Sorbi, Sandro; Butler, Chris R.; Graff, Caroline; Gerhard, Alexander; Laforce, Robert; Sanchez-Valle, Raquel; de Mendonca, Alexandre; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; Le Ber, Isabelle; Levin, Johannes; Otto, Markus; Pasquier, Florence; Santana, Isabel; Zetterberg, Henrik und Rohrer, Jonathan D.
(2022):
C5F glial markers are elevated in a subset of patients with genetic frontotemporal dementia.
In: Annals of Clinical and Translational Neurology, Bd. 9, Nr. 11: S. 1764-1777
[PDF, 527kB]
Schoenecker, Sonja; Martinez-Murcia, Francisco J.; Rauchmann, Boris-Stephan; Franzmeier, Nicolai; Prix, Catharina; Wlasich, Elisabeth; Loosli, Sandra V.; Bochmann, Katja; Gorriz Saez, Juan-Manuel; Laforce, Robert; Ducharme, Simon; Tartaglia, Maria Carmela; Finger, Elizabeth; de Mendonca, Alexandre; Santana, Isabel; Sanchez-Valle, Raquel; Moreno, Fermin; Sorbi, Sandro; Tagliavini, Fabrizio; Borroni, Barbara; Otto, Markus; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Swieten, John van; Butler, Christopher; Gerhard, Alexander; Graff, Caroline; Danek, Adrian; Rohrer, Jonathan D.; Masellis, Mario; Rowe, James und Levin, Johannes
(2022):
Frequency and Longitudinal Course of Motor Signs in Genetic Frontotemporal Dementia.
In: Neurology, Bd. 99, Nr. 10, E1032-E1044
[PDF, 611kB]
Seckin, Mustafa; Ricard, Ingrid; Raiser, Theresa; Heitkamp, Nari; Ebert, Anne; Prix, Catharina; Levin, Johannes; Diehl-Schmid, Janine; Riedl, Lina; Rossmeier, Carola; Hoen, Nora; Schroeter, Matthias L.; Marschhauser, Anke; Obrig, Hellmuth; Benke, Thomas; Kornhuber, Johannes; Fliessbach, Klaus; Schneider, Anja; Wiltfang, Jens; Jahn, Holger; Fassbender, Klaus; Prudlo, Johannes; Lauer, Martin; Duning, Thomas; Wilke, Carlo; Synofzik, Matthis; Anderl-Straub, Sarah; Semler, Elisa; Lombardi, Jolina; Landwehrmeyer, Bernard; Ludolph, Albert; Otto, Markus und Danek, Adrian
(2022):
Utility of the Repeat and Point Test for Subtyping Patients With Primary Progressive Aphasia.
In: Alzheimer Disease and Associated Disorders, Bd. 36, Nr. 1: S. 44-51
Staffaroni, Adam M.; Quintana, Melanie; Wendelberger, Barbara; Heuer, Hilary W.; Russell, Lucy L.; Cobigo, Yann; Wolf, Amy; Goh, Sheng-Yang Matt; Petrucelli, Leonard; Gendron, Tania F.; Heller, Carolin; Clark, Annie L.; Taylor, Jack Carson; Wise, Amy; Ong, Elise; Forsberg, Leah; Brushaber, Danielle; Rojas, Julio C.; VandeVrede, Lawren; Ljubenkov, Peter; Kramer, Joel; Casaletto, Kaitlin B.; Appleby, Brian; Bordelon, Yvette; Botha, Hugo; Dickerson, Bradford C.; Domoto-Reilly, Kimiko; Fields, Julie A.; Foroud, Tatiana; Gavrilova, Ralitza; Geschwind, Daniel; Ghoshal, Nupur; Goldman, Jill; Graff-Radford, Jonathon; Graff-Radford, Neill; Grossman, Murray; Hall, Matthew G. H.; Hsiung, Ging-Yuek; Huey, Edward D.; Irwin, David; Jones, David T.; Kantarci, Kejal; Kaufer, Daniel; Knopman, David; Kremers, Walter; Lago, Argentina Lario; Lapid, Maria I.; Litvan, Irene; Lucente, Diane; Mackenzie, Ian R.; Mendez, Mario F.; Mester, Carly; Miller, Bruce L.; Onyike, Chiadi U.; Rademakers, Rosa; Ramanan, Vijay K.; Ramos, Eliana Marisa; Rao, Meghana; Rascovsky, Katya; Rankin, Katherine P.; Roberson, Erik D.; Savica, Rodolfo; Tartaglia, M. Carmela; Weintraub, Sandra; Wong, Bonnie; Cash, David M.; Bouzigues, Arabella; Swift, Imogen J.; Peakman, Georgia; Bocchetta, Martina; Todd, Emily G.; Convery, Rhian S.; Rowe, James B.; Borroni, Barbara; Galimberti, Daniela; Tiraboschi, Pietro; Masellis, Mario; Finger, Elizabeth; Swieten, John C. van; Seelaar, Harro; Jiskoot, Lize C.; Sorbi, Sandro; Butler, Chris R.; Graff, Caroline; Gerhard, Alexander; Langheinrich, Tobias; Laforce, Robert; Sanchez-Valle, Raquel; de Mendonca, Alexandre; Moreno, Fermin; Synofzik, Matthis; Vandenberghe, Rik; Ducharme, Simon; Le Ber, Isabelle; Levin, Johannes; Danek, Adrian; Otto, Markus; Pasquier, Florence; Santana, Isabel; Kornak, John; Boeve, Bradley F.; Rosen, Howard J.; Rohrer, Jonathan D. und Boxer, Adam L.
(2022):
Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
In: Nature Medicine, Bd. 28, Nr. 10: S. 2194-2206
[PDF, 2MB]
Premi, Enrico; Costa, Tommaso; Gazzina, Stefano; Benussi, Alberto; Cauda, Franco; Gasparotti, Roberto; Archetti, Silvana; Alberici, Antonella; Swieten, John C. van; Sanchez-Valle, Raquel; Moreno, Fermin; Santana, Isabel; Laforce, Robert; Ducharme, Simon; Graff, Caroline; Galimberti, Daniela; Masellis, Mario; Tartaglia, Carmela; Rowe, James B.; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Vandenberghe, Rik; Gerhard, Alexander; Butler, Chris R.; Danek, Adrian; Synofzik, Matthis; Levin, Johannes; Otto, Markus; Ghidoni, Roberta; Frisoni, Giovanni; Sorbi, Sandro; Peakman, Georgia; Todd, Emily; Bocchetta, Martina; Rohrer, Johnathan D. und Borroni, Barbara
(2022):
An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers.
In: Journal of Alzheimers Disease, Bd. 86, Nr. 1: S. 205-218
Poos, Jackie M.; MacDougall, Amy; Berg, Esther van den; Jiskoot, Lize C.; Papma, Janne M.; Ende, Emma L. van der; Seelaar, Harro; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian; Pijnenburg, Yolande A. L.; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert Jr.; Dore, Marie-Claire; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; Mendonca, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Ducharme, Simon; Butler, Christopher; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Le Ber, Isabelle; Pasquier, Florence; Swieten, John van und Rohrer, Jonathan D.
(2022):
Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort.
In: Neurology, Bd. 99, Nr. 3, E281-E295
[PDF, 678kB]
Sogorb-Esteve, Aitana; Nilsson, Johanna; Swift, Imogen J.; Heller, Carolin; Bocchetta, Martina; Russell, Lucy L.; Peakman, Georgia; Convery, Rhian S.; Swieten, John C. van; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Gobom, Johan; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik und Rohrer, Jonathan D.
(2022):
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia.
In: Alzheimer's Research & Therapy, Bd. 14, Nr. 1, 118
[PDF, 2MB]
Bruffaerts, Rose; Gors, Dorothy; Gallardo, Alicia Barcenas; Vandenbulcke, Mathieu; Damme, Philip van; Suetens, Paul; Swieten, John C. van; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; de Mendonca, Alexandre; Tagliavini, Fabrizio; Butler, Chris R.; Santana, Isabel; Gerhard, Alexander; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Otto, Markus; Rohrer, Jonathan D.; Dupont, Patrick; Claes, Peter und Vandenberghe, Rik
(2022):
Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of C9orf72.
In: Brain Communications, Bd. 4, Nr. 4, fcac182
Muth, Carolin; Teufel, Julian; Schöls, Ludger; Synofzik, Matthis; Franke, Christiana; Timmann, Dagmar; Mansmann, Ulrich und Strupp, Michael
(August 2021):
Fampridine and Acetazolamide in EA2 and Related Familial EA. A Prospective Randomized Placebo-Controlled Trial.
In: Neurology: Clinical Practice, Bd. 11, Nr. 4, e438-e446
Traschuetz, Andreas; Reich, Selina; Adarmes, Astrid D.; Anheim, Mathieu; Ashrafi, Mahmoud Reza; Baets, Jonathan; Basak, A. Nazli; Bertini, Enrico; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Hanagasi, Hasmet A.; Heinzmann, Anna; Horvath, Rita; Jonghe, Peter de; Kamm, Christoph; Klivenyi, Peter; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde; Roxburgh, Richard H.; Santorelli, Filippo M.; Schirinzi, Tommaso; Sival, Deborah A.; Timmann, Dagmar; Vielhaber, Stefan; Wallner, Michael; Warrenburg, Bart P. van de; Zanni, Ginevra; Zuchner, Stephan; Klockgether, Thomas; Schuele, Rebecca; Schols, Ludger und Synofzik, Matthis
(25. Juni 2021):
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
In: Frontiers in Neurology, Bd. 12, 677551
[PDF, 1MB]
Wilke, Carlo; Reich, Selina; Swieten, John C. van; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria C.; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R.; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Bocchetta, Martina; Todd, Emily; Kuhle, Jens; Barro, Christian; Rohrer, Jonathan D. und Synofzik, Matthis
(2021):
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
In: Annals of Neurology, Bd. 91, Nr. 1: S. 33-47
[PDF, 2MB]
Young, Alexandra L.; Bocchetta, Martina; Russell, Lucy L.; Convery, Rhian S.; Peakman, Georgia; Todd, Emily; Cash, David M.; Greaves, Caroline V.; Swieten, John van; Jiskoot, Lize; Seelaar, Harro; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; Mendonca, Alexandre de; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Otto, Markus; Sorbi, Sandro; Williams, Steven C. R.; Alexander, Daniel C. und Rohrer, Jonathan D.
(2021):
Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling.
In: Neurology, Bd. 97, Nr. 9, E941-E952
[PDF, 541kB]
Anderl-Straub, Sarah; Lausser, Ludwig; Lombardi, Jolina; Uttner, Ingo; Fassbender, Klaus; Fliessbach, Klaus; Huppertz, Hans-Jürgen; Jahn, Holger; Kornhuber, Johannes; Obrig, Hellmuth; Schneider, Anja; Semler, Elisa; Synofzik, Matthis; Danek, Adrian; Prudlo, Johannes; Kassubek, Jan; Landwehrmeyer, Bernhard; Lauer, Martin; Volk, Alexander E.; Wiltfang, Jens; Diehl-Schmid, Janine; Ludolph, Albert C.; Schroeter, Matthias L.; Kestler, Hans A. und Otto, Markus
(2021):
Predicting disease progression in behavioral variant frontotemporal dementia.
In: Alzheimer'S & Dementia: Diagnosis, Assessment & Disease Monitoring, Bd. 13, Nr. 1, e12262
Benussi, Alberto; Premi, Enrico; Gazzina, Stefano; Brattini, Chiara; Bonomi, Elisa; Alberici, Antonella; Jiskoot, Lize; Swieten, John C. van; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Masellis, Mario; Tartaglia, Carmela; Rowe, James B.; Finger, Elizabeth; Vandenberghe, Rik; Mendonca, Alexandre de; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R.; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence; Peakman, Georgia; Todd, Emily; Bocchetta, Martina; Rohrer, Jonathan D. und Borroni, Barbara
(2021):
Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.
In: Jama Network Open, Bd. 4, Nr. 1, e2030194
[PDF, 1MB]
Bocchetta, Martina; Todd, Emily G.; Peakman, Georgia; Cash, David M.; Convery, Rhian S.; Russell, Lucy L.; Thomas, David L.; Iglesias, Juan Eugenio; Swieten, John C. van; Jiskoot, Lize C.; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Mendonca, Alexandre de; Santana, Isabel; Butler, Chris R.; Ducharme, Simon; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence und Rohrer, Jonathan D.
(2021):
Differential early subcortical involvement in genetic FTD within the GENFI cohort.
In: Neuroimage-Clinical, Bd. 30, 102646
[PDF, 2MB]
Borrego-Ecija, Sergi; Sala-Llonch, Roser; Swieten, John van; Borroni, Barbara; Moreno, Fermin; Masellis, Mario; Tartaglia, Carmela; Graff, Caroline; Galimberti, Daniela; Laforce, Robert; Rowe, James B.; Finger, Elizabeth; Vandenberghe, Rik; Tagliavini, Fabrizio; Mendonca, Alexandre de; Santana, Isabel; Synofzik, Matthis; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Gerhard, Alex; Otto, Markus; Butler, Chris; Frisoni, Giovanni; Sorbi, Sandro; Heller, Carolin; Bocchetta, Martina; Cash, David M.; Convery, Rhian S.; Moore, Katrina M.; Rohrer, Jonathan D. und Sanchez-Valle, Raquel
(2021):
Disease-related cortical thinning in presymptomatic granulin mutation carriers.
In: Neuroimage-Clinical, Bd. 29, 102540
[PDF, 2MB]
Ende, Emma L.van der; Bron, Esther E.; Poos, Jackie M.; Jiskoot, Lize C.; Panman, Jessica L.; Papma, Janne M.; Meeter, Lieke H.; Dopper, Elise G. P.; Wilke, Carlo; Synofzik, Matthis; Heller, Carolin; Swift, Imogen J.; Sogorb-Esteve, Aitana; Bouzigues, Arabella; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Graff, Caroline; Laforce, Robert; Galimberti, Daniela; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; Rowe, James B.; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Christopher R.; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Pijnenburg, Yolande A. L.; Sorbi, Sandro; Zetterberg, Henrik; Niessen, Wiro J.; Rohrer, Jonathan D.; Klein, Stefan; Swieten, John C. van; Venkatraghavan, Vikram und Seelaar, Harro
(2021):
A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia.
In: Brain, Bd. 145, Nr. 5: S. 1805-1817
[PDF, 1MB]
Franklin, Hannah D.; Russell, Lucy L.; Peakman, Georgia; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Poos, Jackie; Convery, Rhian S.; Cash, David M.; Swieten, John van; Jiskoot, Lize; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; Mendonca, Alexandre de; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Otto, Markus; Sorbi, Sandro; Le Ber, Isabelle; Pasquier, Florence und Rohrer, Jonathan D.
(2021):
The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort.
In: Alzheimer's Research & Therapy, Bd. 13, Nr. 1, 127
[PDF, 1MB]
Malpetti, Maura; Jones, P. Simon; Tsvetanov, Kamen A.; Rittman, Timothy; Swieten, John C. van; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R.; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Frisoni, Giovanni B.; Ghidoni, Roberta; Sorbi, Sandro; Heller, Carolin; Todd, Emily G.; Bocchetta, Martina; Cash, David M.; Convery, Rhian S.; Peakman, Georgia; Moore, Katrina M.; Rohrer, Jonathan D.; Kievit, Rogier A. und Rowe, James B.
(2021):
Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes.
In: Alzheimer's & Dementia, Bd. 17, Nr. 6: S. 969-983
[PDF, 1MB]
Manera, Ana L.; Dadar, Mahsa; Swieten, John Cornelis van; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James Benedict; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; Mendonca, Alexandre de; Tagliavini, Fabrizio; Santana, Isabel; Butler, Christopher R.; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Rohrer, Jonathan Daniel; Ducharme, Simon und Collins, D. Louis
(2021):
MRI data-driven algorithm for the diagnosis of behavioural variant frontotemporal dementia.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 92, Nr. 6: S. 608-616
Muth, Carolin; Teufel, Julian; Schols, Ludger; Synofzik, Matthis; Franke, Christiana; Timmann, Dagmar; Mansmann, Ulrich und Strupp, Michael
(2021):
Fampridine and Acetazolamide in EA2 and Related Familial EA A Prospective Randomized Placebo-Controlled Trial.
In: Neurology-Clinical Practice, Bd. 11, Nr. 4, E438-E446
Peakman, Georgia; Russell, Lucy L.; Convery, Rhian S.; Nicholas, Jennifer M.; Swieten, John C. van; Jiskoot, Lize C.; Moreno, Fermin; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Borroni, Barbara; Finger, Elizabeth; Synofzik, Matthis; Galimberti, Daniela; Vandenberghe, Rik; Mendonca, Alexandre de; Butler, Chris R.; Gerhard, Alex; Ducharme, Simon; Le Ber, Isabelle; Tagliavini, Fabrizio; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Danek, Adrian; Otto, Markus; Sorbi, Sandro und Rohrer, Jonathan D.
(2021):
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 93, Nr. 2: S. 158-168
[PDF, 1MB]
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; Spaendonk, Rosalina M. L. van; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; Grauw, Ton de; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I.; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; Warrenburg, Bart P. van de; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I.; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; Knaap, Marjo S. van der; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole I. und Bernard, Genevieve
(2021):
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
In: Journal of Clinical Endocrinology & Metabolism, Bd. 106, Nr. 2, E660-E674
Premi, Enrico; Giunta, Marcello; Iraji, Armin; Rachakonda, Srinivas; Calhoun, Vince D.; Gazzina, Stefano; Benussi, Alberto; Gasparotti, Roberto; Archetti, Silvana; Bocchetta, Martina; Cash, Dave; Todd, Emily; Peakman, Georgia; Convery, Rhian; Swieten, John C. van; Jiskoot, Lize; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Carmela; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Butler, Chris R.; Santana, Isabel; Gerhard, Alexander; Le Ber, Isabelle; Pasquier, Florence; Ducharme, Simon; Levin, Johannes; Danek, Adrian; Sorbi, Sandro; Otto, Markus; Rohrer, Jonathan D. und Borroni, Barbara
(2021):
Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study.
In: Neurobiology of Aging, Bd. 108: S. 155-167
Rojas, Julio C.; Wang, Ping; Staffaroni, Adam M.; Heller, Carolin; Cobigo, Yann; Wolf, Amy; Goh, Sheng-Yang M.; Ljubenkov, Peter A.; Heuer, Hilary W.; Fong, Jamie C.; Taylor, Joanne B.; Veras, Eliseo; Song, Linan; Jeromin, Andreas; Hanlon, David; Yu, Lili; Khinikar, Arvind; Sivasankaran, Rajeev; Kieloch, Agnieszka; Valentin, Marie-Anne; Karydas, Anna M.; Mitic, Laura L.; Pearlman, Rodney; Kornak, John; Kramer, Joel H.; Miller, Bruce L.; Kantarci, Kejal; Knopman, David S.; Graff-Radford, Neill; Petrucelli, Leonard; Rademakers, Rosa; Irwin, David J.; Grossman, Murray; Ramos, Eliana Marisa; Coppola, Giovanni; Mendez, Mario F.; Bordelon, Yvette; Dickerson, Bradford C.; Ghoshal, Nupur; Huey, Edward D.; Mackenzie, Ian R.; Appleby, Brian S.; Domoto-Reilly, Kimiko; Hsiung, Ging-Yuek R.; Toga, Arthur W.; Weintraub, Sandra; Kaufer, Daniel I.; Kerwin, Diana; Litvan, Irene; Onyike, Chiadikaobi U.; Pantelyat, Alexander; Roberson, Erik D.; Tartaglia, Maria C.; Foroud, Tatiana; Chen, Weiping; Czerkowicz, Julie; Graham, Danielle L.; Swieten, John C. van; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R.; Gerhard, Alexander; Levin, Johannes; Danek, Adrian; Otto, Markus; Sorbi, Sandro; Cash, David M.; Convery, Rhian S.; Bocchetta, Martina; Foiani, Martha; Greaves, Caroline V.; Peakman, Georgia; Russell, Lucy; Swift, Imogen; Todd, Emily; Rohrer, Jonathan D.; Boeve, Bradley F.; Rosen, Howard J. und Boxer, Adam L.
(2021):
Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration.
In: Neurology, Bd. 96, Nr. 18, E2296-E2312
[PDF, 951kB]
Synofzik, Matthis; Roon-Mom, Willeke M. C. van; Marckmann, Georg; Duyvenvoorde, Hermine A. van; Graessner, Holm; Schule, Rebecca und Aartsma-Rus, Annemieke
(2021):
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.
In: Nucleic Acid Therapeutics, Bd. 32, Nr. 2: S. 83-94
Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; Warrenburg, Bart P. van de; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli und Synofzik, Matthis
(2021):
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
In: Neurology, Bd. 96, Nr. 9, E1369-E1382
Tsvetanov, Kamen A.; Gazzina, Stefano; Jones, P. Simon; Swieten, John van; Borroni, Barbara; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; Mendonca, Alexandre de; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alexander; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Rohrer, Jonathan D. und Rowe, James B.
(2021):
Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia.
In: Alzheimer's & Dementia, Bd. 17, Nr. 3: S. 500-514
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Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan
(2021):
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
In: Brain, Bd. 144: S. 1422-1434
Heller, Carolin; Foiani, Martha S.; Moore, Katrina; Convery, Rhian; Bocchetta, Martina; Neason, Mollie; Cash, David M.; Thomas, David; Greaves, Caroline V.; Woollacott, Ione O. C.; Shafei, Rachelle; Swieten, John C. van; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Christopher R.; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Frisoni, Giovanni; Sorbi, Sandro; Otto, Markus; Heslegrave, Amanda J.; Zetterberg, Henrik und Rohrer, Jonathan D.
(2020):
Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 91, Nr. 3: S. 263-270
[PDF, 1MB]
Le Blanc, Gabriella; Pomerleau, Vincent Jette; McCarthy, Jillian; Borroni, Barbara; Swieten, John van; Galimberti, Daniela; Sanchez-Valle, Raquel; LaForce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria C.; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Sorbi, Sandro; Rohrer, Jonathan D. und Ducharme, Simon
(2020):
Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers.
In: Annals of Neurology, Bd. 88, Nr. 1: S. 113-122
Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; Warrenburg, Bart van de; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; König, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene und Synofzik, Matthis
(2020):
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
In: Annals of Neurology, Bd. 88, Nr. 2: S. 251-263
[PDF, 7MB]
Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Convery, Rhian S.; Moore, Katrina; Cash, David M.; Swieten, John van; Jiskoot, Lize; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Rotondo, Emanuela; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Otto, Markus; Warren, Jason D. und Rohrer, Jonathan D.
(2020):
Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort.
In: Cortex, Bd. 133: S. 384-398
Moore, Katrina M.; Nicholas, Jennifer; Grossman, Murray; McMillan, Corey T.; Irwin, David J.; Massimo, Lauren; Deerlin, Vivianna M. van; Warren, Jason D.; Fox, Nick C.; Rossor, Martin N.; Mead, Simon; Bocchetta, Martina; Boeve, Bradley F.; Knopman, David S.; Graff-Radford, Neill R.; Forsberg, Leah K.; Rademakers, Rosa; Wszolek, Zbigniew K.; Swieten, John C. van; Jiskoot, Lize C.; Meeter, Lieke H.; Dopper, Elise G. P.; Papma, Janne M.; Snowden, Julie S.; Saxon, Jennifer; Jones, Matthew; Pickering-Brown, Stuart; Le Ber, Isabelle; Camuzat, Agnes; Brice, Alexis; Caroppo, Paola; Ghidoni, Roberta; Pievani, Michela; Benussi, Luisa; Binetti, Giuliano; Dickerson, Bradford C.; Lucente, Diane; Krivensky, Samantha; Graff, Caroline; Oijerstedt, Linn; Fallstrom, Marie; Thonberg, Hakan; Ghoshal, Nupur; Morris, John C.; Borroni, Barbara; Benussi, Alberto; Padovani, Alessandro; Galimberti, Daniela; Scarpini, Elio; Fumagalli, Giorgio G.; Mackenzie, Ian R.; Hsiung, Ging-Yuek R.; Sengdy, Pheth; Boxer, Adam L.; Rosen, Howie; Taylor, Joanne B.; Synofzik, Matthis; Wilke, Carlo; Sulzer, Patricia; Hodges, John R.; Halliday, Glenda; Kwok, John; Sanchez-Valle, Raquel; Llado, Albert; Borrego-Ecija, Sergi; Santana, Isabel; Almeida, Maria Rosario; Tabuas-Pereira, Miguel; Moreno, Fermin; Barandiaran, Myriam; Indakoetxea, Begona; Levin, Johannes; Danek, Adrian; Rowe, James B.; Cope, Thomas E.; Otto, Markus; Anderl-Straub, Sarah; de Mendonca, Alexandre; Maruta, Carolina; Masellis, Mario; Black, Sandra E.; Couratier, Philippe; Lautrette, Geraldine; Huey, Edward D.; Sorbi, Sandro; Nacmias, Benedetta; Laforce, Robert; Tremblay, Marie-Pier L.; Vandenberghe, Rik; Damme, Philip van; Rogalski, Emily J.; Weintraub, Sandra; Gerhard, Alexander; Onyike, Chiadi U.; Ducharme, Simon; Papageorgiou, Sokratis G.; Ng, Adeline Su Lyn; Brodtmann, Amy; Finger, Elizabeth; Guerreiro, Rita; Bras, Jose; Rohrer, Jonathan D.; Heller, Carolin; Convery, Rhian; Woollacott, Ione O. C.; Shafei, Rachelle; Graff-Radford, Jonathan; Jones, David T.; Dheel, Christina M.; Savica, Rodolfo; Lapid, Maria I.; Baker, Matt; Fields, Julie A.; Gavrilova, Ralitza; Domoto-Reilly, Kimiko; Poos, Jackie M.; Ende, Emma L. van der; Panman, Jessica L.; Kaat, Laura Donker; Seelaar, Harro; Richardson, Anna; Frisoni, Giovanni; Mega, Anna; Fostinelli, Silvia; Chiang, Huei-Hsin; Alberici, Antonella; Arighi, Andrea; Fenoglio, Chiara; Heuer, Hilary; Miller, Bruce; Karydas, Anna; Fong, Jamie; Leitao, Maria Joao; Santiago, Beatriz; Duro, Diana; Ferreira, Carlos; Gabilondo, Alazne; De Arriba, Maria; Tainta, Mikel; Zulaica, Miren; Ferreira, Catarina B.; Semler, Elisa; Ludolph, Albert; Landwehrmeyer, Bernhard; Volk, Alexander E.; Miltenberger, Gabriel; Verdelho, Ana; Afonso, Sonia; Tartaglia, Maria Carmela; Freedman, Morris; Rogaeva, Ekaterina; Ferrari, Camilla; Piaceri, Irene; Bessi, Valentina; Lombardi, Gemma; St-Onge, Frederic; Dore, Marie-Claire; Bruffaerts, Rose; Vandenbulcke, Mathieu; Stock, Jan van den; Mesulam, M. Marsel; Bigio, Eileen; Koros, Christos; Papatriantafyllou, John; Kroupis, Christos; Stefanis, Leonidas; Shoesmith, Christen; Roberson, Erik; Coppola, Giovanni; Da Silva Ramos, Eliana Marisa und Geschwind, Daniel
(2020):
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
In: Lancet Neurology, Bd. 19, Nr. 2: S. 145-156
[PDF, 1MB]
Moore, Katrina; Convery, Rhian; Bocchetta, Martina; Neason, Mollie; Cash, David M.; Greaves, Caroline; Russell, Lucy L.; Clarke, Mica T. M.; Peakman, Georgia; Swieten, John van; Jiskoot, Lize; Moreno, Fermin; Barandiaran, Myriam; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Dore, Marie-Claire; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Karnath, Hans-Otto; Vandenberghe, Rik; de Mendonca, Alexandre; Maruta, Carolina; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Otto, Markus; Warren, Jason D.; Rohrer, Jonathan D.; Rossor, Martin N.; Fox, Nick C.; Woollacott, Ione O. C.; Shafei, Rachelle; Heller, Carolin; Guerreiro, Rita; Bras, Jose; Thomas, David L.; Nicholas, Jennifer; Mead, Simon; Meeter, Lieke; Panman, Jessica; Papma, Janne; Minkelen, Rick van; Pijnenburg, Yolande; Indakoetxea, Begona; Gabilondo, Alazne; Tainta, Mikel; De Arriba, Maria; Gorostidi, Ana; Zulaica, Miren; Villanua, Jorge; Diaz, Zigor; Borrego-Ecija, Sergi; Olives, Jaume; Llado, Albert; Balasa, Mircea; Antonell, Anna; Bargallo, Nuria; Premi, Enrico; Cosseddu, Maura; Gazzina, Stefano; Padovani, Alessandro; Gasparotti, Roberto; Archetti, Silvana; Black, Sandra; Mitchell, Sara; Rogaeva, Ekaterina; Freedman, Morris; Keren, Ron; Tang-Wa, David; Oijerstedt, Linn; Andersson, Christin; Jelic, Vesna; Thonberg, Hakan; Arighi, Andrea; Fenoglio, Chiara; Scarpini, Elio; Fumagalli, Giorgio; Cope, Thomas; Timberlake, Carolyn; Rittman, Timothy; Shoesmith, Christen; Bartha, Robart; Rademakers, Rosa; Wilke, Carlo; Bender, Benjamin; Bruffaerts, Rose; Damme, Philip van; Vandenbulcke, Mathieu; Ferreira, Catarina B.; Miltenberger, Gabriel; Verdelho, Ana; Afonso, Sonia; Taipa, Ricardo; Caroppo, Paola; Di Fede, Giuseppe; Giaccone, Giorgio; Prioni, Sara; Redaelli, Veronica; Rossi, Giacomina; Tiraboschi, Pietro; Duro, Diana; Almeida, Maria Rosario; Castelo-Branco, Miguel; Leitao, Maria Joao; Tabuas-Pereira, Miguel; Santiago, Beatriz; Gauthier, Serge; Rosa-Neto, Pedro; Veldsman, Michele; Flanagan, Toby; Prix, Catharina; Hoegen, Tobias; Wlasich, Elisabeth; Loosli, Sandra; Schonecker, Sonja; Semler, Elisa und Anderl-Straub, Sarah
(2020):
A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort.
In: Applied Neuropsychology-Adult
Altmann, Andre; Cash, David M.; Bocchetta, Martina; Heller, Carolin; Reynolds, Regina; Moore, Katrina; Convery, Rhian S.; Thomas, David L.; Swieten, John C. van; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris R.; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Frisoni, Giovanni; Ghidoni, Roberta; Sorbi, Sandro; Otto, Markus; Ryten, Mina und Rohrer, Jonathan D.
(2020):
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.
In: Brain Communications, Bd. 2, Nr. 2, 122
[PDF, 1MB]
Ende, Emma L. van der; Xiao, Meifang; Xu, Desheng; Poos, Jackie M.; Panman, Jessica L.; Jiskoot, Lize C.; Meeter, Lieke H.; Dopper, Elise G. P.; Papma, Janne M.; Heller, Carolin; Convery, Rhian; Moore, Katrina; Bocchetta, Martina; Neason, Mollie; Peakman, Georgia; Cash, David M.; Teunissen, Charlotte E.; Graff, Caroline; Synofzik, Matthis; Moreno, Fermin; Finger, Elizabeth; Sanchez-Valle, Raquel; Vandenberghe, Rik; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Butler, Christopher R.; Ducharme, Simon; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Pijnenburg, Yolande A. L.; Otto, Markus; Borroni, Barbara; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Galimberti, Daniela; Seelaar, Harro; Rohrer, Jonathan D.; Worley, Paul F. und Swieten, John C. van
(2020):
Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 91, Nr. 6: S. 612-621
[PDF, 2MB]
Tavares, Tamara Paulo; Mitchell, Derek G. V.; Coleman, Kristy K. L.; Coleman, Brenda L.; Shoesmith, Christen L.; Butler, Christopher R.; Santana, Isabel; Danek, Adrian; Gerhard, Alexander; De Mendonca, Alexandre; Borroni, Barbara; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Tagliavini, Fabrizio; Moreno, Fermin; Frisoni, Giovanni; Rowe, James Benedict; Levin, Johannes; Swieten, John Cornelis van; Otto, Markus; Synofzik, Matthis; Sanchez-Valle, Raquel; Vandenberghe, Rik; Laforce, Robert; Ghidoni, Roberta; Sorbi, Sandro; Ducharme, Simon; Masellis, Mario; Rohrer, Jonathan und Finger, Elizabeth
(2020):
Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 91, Nr. 9: S. 975-984
[PDF, 123kB]
Convery, Rhian S.; Bocchetta, Martina; Greaves, Caroline V.; Moore, Katrina M.; Cash, David M.; Swieten, John van; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; De Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Christopher; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Otto, Markus; Warren, Jason D. und Rohrer, Jonathan D.
(2020):
Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 91, Nr. 12: S. 1325-1328
[PDF, 724kB]
Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas
(2020):
Delineating MT-ATP6-associated disease.
In: Neurology-Genetics, Bd. 6, Nr. 1, e393
[PDF, 543kB]
Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej und Auer-Grumbach, Michaela
(2020):
The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME.
In: Neurology, Bd. 95, Nr. 24, E3163-E3179
van der Ende, Emma L.; Meeter, Lieke H.; Poos, Jackie M.; Panman, Jessica L.; Jiskoot, Lize C.; Dopper, Elise G. P.; Papma, Janne M.; de Jong, Frank Jan; Verberk, Inge M. W.; Teunissen, Charlotte; Rizopoulos, Dimitris; Heller, Carolin; Convery, Rhian S.; Moore, Katrina M.; Bocchetta, Martina; Neason, Mollie; Cash, David M.; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Cash, David M.; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris; Ducharme, Simon; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni B.; Cappa, Stefano; Pijnenburg, Yolande A. L.; Rohrer, Jonathan D. und van Swieten, John C.
(2019):
Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.
In: Lancet Neurology, Bd. 18, Nr. 12: S. 1103-1111
[PDF, 7MB]
van der Ende, Emma L.; Meeter, Lieke H.; Poos, Jackie M.; Panman, Jessica L.; Jiskoot, Lize C.; Dopper, Elise G. P.; Papma, Janne M.; de Jong, Frank Jan; Verberk, Inge M. W.; Teunissen, Charlotte; Rizopoulos, Dimitris; Heller, Carolin; Convery, Rhian S.; Moore, Katrina M.; Bocchetta, Martina; Neason, Mollie; Cash, David M.; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Cash, David M.; Borroni, Barbara; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris; Ducharme, Simon; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni B.; Cappa, Stefano; Pijnenburg, Yolande A. L.; Rohrer, Jonathan D. und van Swieten, John C.
(2019):
Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.
In: Lancet Neurology, Bd. 18, Nr. 12: S. 1103-1111
Gazzina, Stefano; Grassi, Mario; Premi, Enrico; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; Gasparotti, Roberto; Swieten, John van; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert Jr; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James B.; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; Mendonca, Alexandre de; Santana, Isabel; Butler, Christopher R.; Ducharme, Simon; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Sorbi, Sandro; Padovani, Alessandro; Rohrer, Jonathan D. und Borroni, Barbara
(2019):
Education modulates brain maintenance in presymptomatic frontotemporal dementia.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 90, Nr. 10: S. 1124-1130
[PDF, 553kB]
Albrecht, Franziska; Müller, Karsten; Ballarini, Tommaso; Lampe, Leonie; Diehl-Schmid, Janine; Fassbender, Klaus; Fliessbach, Klaus; Jahn, Holger; Jech, Robert; Kassubek, Jan; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Ludolph, Albert C.; Lyros, Epameinondas; Prudlo, Johannes; Schneider, Anja; Synofzik, Matthis; Wiltfang, Jens; Danek, Adrian; Otto, Markus; Schroeter, Matthias L.; Anderl-Straub, Sarah; Brueggen, Katharina; Fischer, Marie; Foerstl, Hans; Hammer, Anke; Homola, Gyoergy; Just, Walter; Levin, Johannes; Marroquin, Nicolai; Marschhauser, Anke; Nagl, Magdalena; Oberstein, Timo; Polyakova, Maryna; Pellkofer, Hannah; Richter-Schmidinger, Tanja; Rossmeier, Carola; Schuemberg, Katharina; Semler, Elisa; Spottke, Annika; Steinacker, Petra; Thoene-Otto, Angelika; Uttner, Ingo und Zech, Heike
(2019):
Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging.
In: Cortex, Bd. 117: S. 33-40
Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni und Durr, Alexandra
(2019):
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
In: Neurology, Bd. 92, Nr. 23, E2679-E2690
Pottier, Cyril; Ren, Yingxue; Perkerson, Ralph B.; Baker, Matt; Jenkins, Gregory D.; Blitterswijk, Marka van; DeJesus-Hernandez, Mariely; van Rooij, Jeroen G. J.; Murray, Melissa E.; Christopher, Elizabeth; McDonnell, Shannon K.; Fogarty, Zachary; Batzler, Anthony; Tian, Shulan; Vicente, Cristina T.; Matchett, Billie; Karydas, Anna M.; Hsiung, Ging-Yuek Robin; Seelaar, Harro; Mol, Merel O.; Finger, Elizabeth C.; Graff, Caroline; Oijerstedt, Linn; Neumann, Manuela; Heutink, Peter; Synofzik, Matthis; Wilke, Carlo; Prudlo, Johannes; Rizzu, Patrizia; Simon-Sanchez, Javier; Edbauer, Dieter; Roeber, Sigrun; Diehl-Schmid, Janine; Evers, Bret M.; King, Andrew; Mesulam, M. Marsel; Weintraub, Sandra; Geula, Changiz; Bieniek, Kevin F.; Petrucelli, Leonard; Ahern, Geoffrey L.; Reiman, Eric M.; Woodruff, Bryan K.; Caselli, Richard J.; Huey, Edward D.; Farlow, Martin R.; Grafman, Jordan; Mead, Simon; Grinberg, Lea T.; Spina, Salvatore; Grossman, Murray; Irwin, David J.; Lee, Edward B.; Suh, EunRan; Snowden, Julie; Mann, David; Ertekin-Taner, Nilufer; Uitti, Ryan J.; Wszolek, Zbigniew K.; Josephs, Keith A.; Parisi, Joseph E.; Knopman, David S.; Petersen, Ronald C.; Hodges, John R.; Piguet, Olivier; Geier, Ethan G.; Yokoyama, Jennifer S.; Rissman, Robert A.; Rogaeva, Ekaterina; Keith, Julia; Zinman, Lorne; Tartaglia, Maria Carmela; Cairns, Nigel J.; Cruchaga, Carlos; Ghetti, Bernardino; Kofler, Julia; Lopez, Oscar L.; Beach, Thomas G.; Arzberger, Thomas; Herms, Jochen; Honig, Lawrence S.; Vonsattel, Jean Paul; Halliday, Glenda M.; Kwok, John B.; White, Charles L.; Gearing, Marla; Glass, Jonathan; Rollinson, Sara; Pickering-Brown, Stuart; Rohrer, Jonathan D.; Trojanowski, John Q.; Van Deerlin, Vivianna; Bigio, Eileen H.; Troakes, Claire; Al-Sarraj, Safa; Asmann, Yan; Miller, Bruce L.; Graff-Radford, Neill R.; Boeve, Bradley F.; Seeley, William W.; Mackenzie, Ian R. A.; van Swieten, John C.; Dickson, Dennis W.; Biernacka, Joanna M. und Rademakers, Rosa
(2019):
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
In: Acta Neuropathologica, Bd. 137, Nr. 6: S. 879-899
[PDF, 1MB]
Premi, Enrico; Calhoun, Vince D.; Diano, Matteo; Gazzina, Stefano; Cosseddu, Maura; Alberici, Antonella; Archetti, Silvana; Paternico, Donata; Gasparotti, Roberto; van Swieten, John; Galimberti, Daniela; Sanchez-Valle, Raquel; Laforce, Robert; Moreno, Fermin; Synofzik, Matthis; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James; Vandenberghe, Rik; Finger, Elizabeth; Tagliavini, Fabrizio; de Mendonca, Alexandre; Santana, Isabel; Butler, Chris; Ducharme, Simon; Gerhard, Alex; Danek, Adrian; Levin, Johannes; Otto, Markus; Frisoni, Giovanni; Cappa, Stefano; Sorbi, Sandro; Padovani, Alessandro; Rohrer, Jonathan D. und Borroni, Barbara
(2019):
The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint.
In: Neuroimage, Bd. 189: S. 645-654
Sobrido, Maria-Jesus; Bauer, Peter; de Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis und Hendriksz, Chris J.
(2019):
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
In: Orphanet Journal of Rare Diseases, Bd. 14, 20
[PDF, 696kB]
Sudre, Carole H.; Bocchetta, Martina; Heller, Carolin; Convery, Rhian; Neason, Mollie; Moore, Katrina M.; Cash, David M.; Thomas, David L.; Woollacott, Ione O. C.; Foiani, Martha; Heslegrave, Amanda; Shafei, Rachelle; Greaves, Caroline; van Swieten, John; Moreno, Fermin; Sanchez-Valle, Raquel; Borroni, Barbara; Laforce, Robert; Masellis, Mario; Tartaglia, Maria Carmela; Graff, Caroline; Galimberti, Daniela; Rowe, James B.; Finger, Elizabeth; Synofzik, Matthis; Vandenberghe, Rik; de Mendonca, Alexandre; Tagliavini, Fabrizio; Santana, Isabel; Ducharme, Simon; Butler, Chris; Gerhard, Alex; Levin, Johannes; Danek, Adrian; Frisoni, Giovanni B.; Sorbi, Sandro; Otto, Markus; Zetterberg, Henrik; Ourselin, Sebastien; Cardoso, M. Jörge; Rohrer, Jonathan D.; Rossor, Martin N.; Warren, Jason D.; Fox, Nick C.; Guerreiro, Rita; Bras, Jose; Thomas, David L.; Nicholas, Jennifer; Mead, Simon; Jiskoot, Lize; Meeter, Lieke; Panman, Jessica; Papma, Janne; van Minkelen, Rick; Pijnenburg, Yolanda; Barandiaran, Myriam; Indakoetxea, Begona; Gabilondo, Alazne; Tainta, Mikel; de Arriba, Maria; Gorostidi, Ana; Zulaica, Miren; Villanua, Jörge; Diaz, Zigor; Borrego-Ecija, Sergi; Olives, Jaume; Llado, Albert; Balasa, Mircea; Antonell, Anna; Bargallo, Nuria; Premi, Enrico; Cosseddu, Maura; Gazzina, Stefano; Padovani, Alessandro; Gasparotti, Roberto; Archetti, Silvana; Black, Sandra; Mitchell, Sara; Rogaeva, Ekaterina; Freedman, Morris; Keren, Ron; Tang-Wai, David; Oijerstedt, Linn; Andersson, Christin; Jelic, Vesna; Thonberg, Hakan; Arighi, Andrea; Fenoglio, Chiara; Scarpini, Elio; Fumagalli, Giorgio; Cope, Thomas; Timberlake, Carolyn; Rittman, Timothy; Shoesmith, Christen; Bartha, Robart; Rademakers, Rosa; Wilke, Carlo; Karnarth, Hans-Otto; Bender, Benjamin; Bruffaerts, Rose; Vandamme, Philip; Vandenbulcke, Mathieu; Ferreira, Catarina B.; Miltenberger, Gabriel; Maruta, Carolina; Verdelho, Ana; Afonso, Sonia; Taipa, Ricardo; Caroppo, Paola; Di Fede, Giuseppe; Giaccone, Giorgio; Prioni, Sara; Redaelli, Veronica; Rossi, Giacomina; Tiraboschi, Pietro; Duro, Diana; Almeida, Maria Rosario; Castelo-Branco, Miguel; Leitao, Maria Joao; Tabuas-Pereira, Miguel; Santiago, Beatriz; Gauthier, Serge; Rosa-Neto, Pedro; Veldsman, Michele; Flanagan, Toby; Prix, Catharina; Hoegen, Tobias; Wlasich, Elisabeth; Loosli, Sandra; Schonecker, Sonja; Semler, Elisa; Anderl-Straub, Sarah; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Pievani, Michela; Lombardi, Gemma; Nacmias, Benedetta; Ferrari, Camilla und Bessi, Valentina
(2019):
White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study.
In: Neuroimage-Clinical, Bd. 24, 102077
Blauwendraat, Cornelis; Wilke, Carlo; Simon-Sanchez, Javier; Jansen, Iris E.; Reifschneider, Anika; Capell, Anja; Haass, Christian ORCID: https://orcid.org/0000-0002-4869-1627; Castillo-Lizardo, Melissa; Biskup, Saskia; Maetzler, Walter; Rizzu, Patrizia; Heutink, Peter und Synofzik, Matthis
(2018):
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
In: Genetics in Medicine, Bd. 20, Nr. 2: S. 240-249
ORCID: https://orcid.org/0000-0002-4869-1627; Castillo-Lizardo, Melissa; Biskup, Saskia; Maetzler, Walter; Rizzu, Patrizia; Heutink, Peter und Synofzik, Matthis
(2018):
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
In: Genetics in Medicine, Bd. 20, Nr. 2: S. 240-249
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(2018):
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
In: Lancet Neurology, Bd. 17, Nr. 6: S. 548-558
Zee, Julie van der; Gijselinck, Ilse; Mossevelde, Sara van; Perrone, Federica; Dillen, Lubina; Heeman, Bavo; Bäumer, Veerle; Engelborghs, Sebastiaan; Bleecker, Jan de; Baets, Jonathan; Gelpi, Ellen; Rojas-Garcia, Ricardo; Clarimon, Jordi; Lleo, Alberto; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Perneczky, Robert; Synofzik, Matthis; Just, Jennifer; Schöls, Ludger; Graff, Caroline; Thonberg, Håkan; Borroni, Barbara; Padovani, Alessandro; Jordanova, Albena; Sarafov, Stayko; Tournev, Ivailo; Mendonca, Alexandre de; Miltenberger-Miltenyi, Gabriel; Simoes do Couto, Frederico; Ramirez, Alfredo; Jessen, Frank; Heneka, Michael T.; Gomez-Tortosa, Estrella; Danek, Adrian; Cras, Patrick; Vandenberghe, Rik; Jonghe, Peter de; Deyn, Peter P. de; Sleegers, Kristel; Cruts, Marc und Broeckhoven, Christine van
(2017):
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
In: Human Mutation, Bd. 38, Nr. 3: S. 297-309
Hendriksz, Christian J.; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; Koning, Tom J. de; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Bergh, Florian Then; Topcu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian und Kolb, Stefan A.
(2017):
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
In: Current Medical Research and Opinion, Bd. 33, Nr. 5: S. 877-890
Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Söhn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmüller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Bäts, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Rüdiger; Sturm, Marc; Röske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Brüstle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; Jonghe, Peter de; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Jürgen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schöls, Ludger; Nürnberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo und Schüle, Rebecca
(2017):
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
In: Brain, Bd. 140: S. 1561-1578
Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Bösch, Sylvia; Eigentler, Andreas; Warrenburg, Bart van de; Gaalen, Judith van; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Montcel, Sophie Tezenas du und Klockgether, Thomas
(2017):
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
In: Neurology, Bd. 89, Nr. 10: S. 1043-1049
[PDF, 163kB]
Gentsch, Antje; Weber, Arne; Synofzik, Matthis; Vosgerau, Gottfried und Schütz-Bosbach, Simone
(Januar 2016):
Towards a common framework of grounded action cognition.
In: Cognition, Bd. 146: S. 81-89
Synofzik, Matthis; Smets, Katrien; Mallaret, Martial; Di Bella, Daniela; Gallenmüller, Constanze; Baets, Jonathan; Schulze, Martin; Magri, Stefania; Sarto, Elisa; Mustafa, Mona; Deconinck, Tine; Haack, Tobias; Züchner, Stephan; Gonzalez, Michael; Timmann, Dagmar; Stendel, Claudia; Klopstock, Thomas; Durr, Alexandra; Tranchant, Christine; Sturm, Marc; Hamza, Wahiba; Nanetti, Lorenzo; Mariotti, Caterina; Koenig, Michel; Schöls, Ludger; Schüle, Rebecca; Jonghe, Peter de; Anheim, Mathieu; Taroni, Franco und Bauer, Peter
(2016):
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
In: Brain, Bd. 139: S. 1378-1393
Obayashi, Masato; Stevanin, Giovanni; Synofzik, Matthis; Monin, Marie-Lorraine; Duyckaerts, Charles; Sato, Nozomu; Streichenberger, Nathalie; Vighetto, Alain; Desestret, Virginie; Tesson, Christelle; Wichmann, Heinz-Erich; Illig, Thomas; Huttenlocher, Johanna; Kita, Yasushi; Izumi, Yuishin; Mizusawa, Hidehiro; Schoels, Ludger; Klopstock, Thomas; Brice, Alexis; Ishikawa, Kinya und Dürr, Alexandra
(2015):
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
In: Journal if neurology, neurosurgery and psychiatry, Bd. 86, Nr. 9: S. 986-995
[PDF, 704kB]
Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schuele, Rebecca; Haack, Tobias B.; Schoening, Martin; Biskup, Saskia; Rudnik-Schoeneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krueger, Stefan; Kreuz, Friedmar; Bauer, Peter und Schoels, Ludger
(2013):
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
In: Orphanet Journal of Rare Diseases
8:41
[PDF, 1MB]