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Gruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 12
2024
Indelicato, Elisabetta; Boesch, Sylvia; Havrankova, Petra; Prihodova, Iva; Winkelmann, Juliane; Jech, Robert und Zech, Michael
(2024):
SOXopathies and dystonia: Consolidation of a recurrent association.
In: Parkinsonism & Related Disorders, Bd. 119, 105960
Sorrentino, Ugo; Boesch, Sylvia; Doummar, Diane; Ravelli, Claudia; Serranova, Tereza; Indelicato, Elisabetta; Winkelmann, Juliane; Burglen, Lydie; Jech, Robert und Zech, Michael
(2024):
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2859-2865
[PDF, 467kB]
Indelicato, Elisabetta; Romito, Luigi Michele; Harrer, Philip; Andreasi, Nico Golfre; Colangelo, Isabel; Kopajtich, Robert; Winkelmann, Juliane; Prokisch, Holger; Garavaglia, Barbara und Zech, Michael
(2024):
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
In: Movement Disorders
[PDF, 210kB]
Indelicato, Elisabetta; Boesch, Sylvia; Mencacci, Niccolo; Ghezzi, Daniele; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2024):
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
In: Movement Disorders, Bd. 39, Nr. 1: S. 29-35
[PDF, 408kB]
Indelicato, Elisabetta; Schlieben, Lea D.; Stenton, Sarah L.; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Prokisch, Holger und Zech, Michael
(2024):
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients.
In: Journal of Neurology [Forthcoming]
[PDF, 584kB]
2023
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-+
Indelicato, Elisabetta; Boesch, Sylvia; Baumgartner, Manuela; Plecko, Barbara; Winkelmann, Juliane und Zech, Michael
(2023):
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
In: Movement Disorders, Bd. 38, Nr. 2: S. 355-357
[PDF, 127kB]
Porcu, Luca; Fichera, Mario; Nanetti, Lorenzo; Rulli, Eliana; Giunti, Paola; Parkinson, Michael H.; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Indelicato, Elisabetta; Klopstock, Thomas; Stendel, Claudia; de Rivera, Francisco Javier Rodriguez; Schoels, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Joerg B.; Reetz, Kathrin und Mariotti, Caterina
(2023):
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
In: Annals of Clinical and Translational Neurology, Bd. 10, Nr. 11: S. 2000-2012
[PDF, 1MB]
2022
Amprosi, Matthias; Indelicato, Elisabetta; Nachbauer, Wolfgang; Hussl, Anna; Stendel, Claudia; Eigentler, Andreas; Gallenmueller, Constanze; Boesch, Sylvia und Klopstock, Thomas 
ORCID: https://orcid.org/0000-0003-2805-4652
(2022):
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
In: Frontiers in Neurology, Bd. 12, 799953
[PDF, 658kB]
ORCID: https://orcid.org/0000-0003-2805-4652
(2022):
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
In: Frontiers in Neurology, Bd. 12, 799953
[PDF, 658kB]
Dzinovic, Ivana; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Pavelekova, Petra; Havrankova, Petra; Tsoma, Eugenia; Indelicato, Elisabetta; Runkel, Eva; Held, Valentin; Weise, David; Janzarik, Wibke; Eckenweiler, Matthias; Berweck, Steffen; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, Juliane und Zech, Michael
(2022):
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
In: Parkinsonism & Related Disorders, Bd. 102: S. 1-6
2020
Hayer, Stefanie Nicole; Liepelt, Inga; Barro, Christian; Wilke, Carlo; Kuhle, Jens; Martus, Peter; Schoels, Ludger; Schulz, Jörg Bernhard; Reetz, Kathrin; Fedosov, Kathrin; Didszun, Claire; Klockgether, Thomas; Giordano, Ilaria; Pandolfo, Massimo; Depondt, Chantal; Rai, Myriam; Boesch, Sylvia; Nachbauer, Wolfgang; Eigentler, Andreas; Indelicato, Elisabetta; Giunti, Paola; Parkinson, Michael; Manso, Katarina; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Solanky, Nita; Abeti, Rosella; Polke, James; Labrum, Robin; Garrido, Rodriguez de Rivera Francisco Javier; Mascias, Javier; Velasco, Sanchez Sara; Garcia, Secades Sergio; Mariotti, Caterina; Nanetti, Lorenzo; Castaldo, Anna; Mongelli, Alessia; Fichera, Mario; Klopstock, Thomas; Karin, Ivan; Stendel, Claudia; Radelfahr, Florentine; Durr, Alexandra; Biet, Marie; Charles, Perrine; Ewenczyk, Claire; Just, Jennifer; Koutsis, Georgios; Walsh, Richard und Bertini, Enrico
(2020):
NfL and pNfH are increased in Friedreich's ataxia.
In: Journal of Neurology, Bd. 267, Nr. 5: S. 1420-1430
Indelicato, Elisabetta; Nachbauer, Wolfgang; Eigentler, Andreas; Amprosi, Matthias; Gothe, Raffaella Matteucci; Giunti, Paola; Mariotti, Caterina; Arpa, Javier; Durr, Alexandra; Klopstock, Thomas; Schoels, Ludger; Giordano, Ilaria; Bürk, Katrin; Pandolfo, Massimo; Didszdun, Claire; Schulz, Jörg B. und Bösch, Sylvia
(2020):
Onset features and time to diagnosis in Friedreich's Ataxia.
In: Orphanet Journal of Rare Diseases, Bd. 15, Nr. 1, 198