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Anzahl der Publikationen: 51

Zeitschriftenartikel

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]

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

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

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

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

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

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: Alzheimers Research & Therapy, Bd. 13, Nr. 1, 127

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: Alzheimers & Dementia, Bd. 17, Nr. 6: S. 969-983

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

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

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: Alzheimers & Dementia, Bd. 17, Nr. 3: S. 500-514

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

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

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]

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

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

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]

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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 logoORCID: 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

Pottier, Cyril; Zhou, Xiaolai; Perkerson, Ralph B. III; Baker, Matt; Jenkins, Gregory D.; Serie, Daniel J.; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; de Munain, Adolfo Lopez; Zulaica, Miren; Moreno, Fermin; Le Ber, Isabelle; Pasquier, Florence; Hannequin, Didier; Sanchez-Valle, Raquel; Antonell, Anna; Llado, Albert; Parsons, Tammee M.; Finch, Nicole A.; Finger, Elizabeth C.; Lippa, Carol F.; Huey, Edward D.; Neumann, Manuela; Heutink, Peter; Synofzik, Matthis; Wilke, Carlo; Rissman, Robert A.; Slawek, Jaroslaw; Sitek, Emilia; Johannsen, Peter; Nielsen, Jorgen E.; Ren, Yingxue; Blitterswijk, Marka van; DeJesus-Hernandez, Mariely; Christopher, Elizabeth; Murray, Melissa E.; Bieniek, Kevin F.; Evers, Bret M.; Ferrari, Camilla; Rollinson, Sara; Richardson, Anna; Scarpini, Elio; Fumagalli, Giorgio G.; Padovani, Alessandro; Hardy, John; Momeni, Parastoo; Ferrari, Raffaele; Frangipane, Francesca; Maletta, Raffaele; Anfossi, Maria; Gallo, Maura; Petrucelli, Leonard; Suh, EunRan; Lopez, Oscar L.; Wong, Tsz H.; van Rooij, Jeroen G. J.; Seelaar, Harro; Mead, Simon; Caselli, Richard J.; Reiman, Eric M.; Sabbagh, Marwan Noel; Kjolby, Mads; Nykjaer, Anders; Karydas, Anna M.; Boxer, Adam L.; Grinberg, Lea T.; Grafman, Jordan; Spina, Salvatore; Oblak, Adrian; Mesulam, M-Marsel; Weintraub, Sandra; Geula, Changiz; Hodges, John R.; Piguet, Olivier; Brooks, William S.; Irwin, David J.; Trojanowski, John Q.; Lee, Edward B.; Josephs, Keith A.; Parisi, Joseph E.; Ertekin-Taner, Nilufer; Knopman, David S.; Nacmias, Benedetta; Piaceri, Irene; Bagnoli, Silvia; Sorbi, Sandro; Gearing, Marla; Glass, Jonathan; Beach, Thomas G.; Black, Sandra E.; Masellis, Mario; Rogaeva, Ekaterina; Vonsattel, Jean-Paul; Honig, Lawrence S.; Kofler, Julia; Bruni, Amalia C.; Snowden, Julie; Mann, David; Pickering-Brown, Stuart; Diehl-Schmid, Janine; Winkelmann, Juliane; Galimberti, Daniela; Graff, Caroline; Oijerstedt, Linn; Troakes, Claire; Al-Sarraj, Safa; Cruchaga, Carlos; Cairns, Nigel J.; Rohrer, Jonathan D.; Halliday, Glenda M.; Kwok, John B.; Swieten, John C. van; White, Charles L. III; Ghetti, Bernardino; Murell, Jill R.; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Borroni, Barbara; Rossi, Giacomina; Tagliavini, Fabrizio; Wszolek, Zbigniew K.; Petersen, Ronald C.; Bigio, Eileen H.; Grossman, Murray; Deerlin, Vivianna M. van; Seeley, William W.; Miller, Bruce L.; Graff-Radford, Neill R.; Boeve, Bradley F.; Dickson, Dennis W.; Biernacka, Joanna M. und Rademakers, Rosa (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]

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