Kasprzak, Jakub;Dulski, Jarosław;Schinwelski, Michał;Krygier, Magdalena;Zech, Michael;Sławek, Jarosław
ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited
Clinical Parkinsonism & Related Disorders
2025
13
100406

Engel, Johanna;Dzinovic, Ivana;Zech, Michael;Janzarik, Wibke G.
Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia
Neuropediatrics
2025
57
01
065-068

Brunet, Theresa;Zech, Michael;Schatz, Ulrich A.;Adamovičová, Miriam;Wagner, Matias;Graf, Elisabeth;Berutti, Riccardo;Weigand, Heike;Jech, Robert;Meitinger, Thomas;Winkelmann, Juliane;Brugger, Melanie
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A
2025
200
2
511-517

Brücke, Christof;Al-Azzani, Mohammed;Ramalingam, Nagendran;Ramón, Maria;Sousa, Rita L.;Buratti, Fiamma;Zech, Michael;Sicking, Kevin;Amaral, Leslie;Gelpi, Ellen;Chandran, Aswathy;Agarwal, Aishwarya;Chaves, Susana R.;Fernández, Claudio O.;Dettmer, Ulf;Lautenschläger, Janin;Zweckstetter, Markus;Fernández-Busnadiego, Rubén;Zimprich, Alexander;Outeiro, Tiago Fleming
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features
Molecular Neurodegeneration
2025
20
1

Sorrentino, Ugo;Pavlov, Martin;Mirza‐Schreiber, Nazanin;Brugger, Melanie;Brunet, Theresa;Tsoma, Eugenia;Saparov, Alice;Dzinovic, Ivana;Harrer, Philip;Stehr, Antonia M.;Wagner, Matias;Tilch, Erik;Wallacher, Barbara;Alhasan, Shiraz;Koy, Anne;Di Fonzo, Alessio;Kolnikova, Miriam;Kusikova, Katarina;Havrankova, Petra;Tautanova, Raushana;Lösecke, Sandy;Eck, Sebastian;Boesch, Sylvia;Necpal, Jan;Skorvanek, Matej;Jech, Robert;Prokisch, Holger;Winkelmann, Juliane;Oexle, Konrad;Graf, Elisabeth;Zech, Michael
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Movement Disorders
2025
41
1
70-83

Brücke, Christof;Al-Azzani, Mohammed;Ramalingam, Nagendran;Ramón, Maria;Sousa, Rita L.;Buratti, Fiamma;Zech, Michael;Sicking, Kevin;Amaral, Leslie;Gelpi, Ellen;Chandran, Aswathy;Agarwal, Aishwarya;Chaves, Susana R.;Fernández, Claudio O.;Dettmer, Ulf;Lautenschläger, Janin;Zweckstetter, Markus;Fernández-Busnadiego, Rubén;Zimprich, Alexander;Outeiro, Tiago Fleming
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features
Molecular Neurodegeneration
2025
20
1

Al‐Azzani, Mohammed;Weber, Sandrina;Ramalingam, Nagendran;Ramón, Maria;Shvachiy, Liana;Mestre, Gonçalo;Zech, Michael;Sicking, Kevin;de Opakua, Alain Ibáñez;Jayanthi, Vidyashree;Amaral, Leslie;Agarwal, Aishwarya;Chandran, Aswathy;Chaves, Susana R.;Winkelmann, Juliane;Trenkwalder, Claudia;Schwager, Maike;Pauli, Silke;Dettmer, Ulf;Fernández, Claudio O.;Lautenschläger, Janin;Zweckstetter, Markus;Fernandez‐Busnadiego, Ruben;Mollenhauer, Brit;Outeiro, Tiago Fleming
A Novel α‐Synuclein K58N Missense Variant in a Patient with Parkinson's Disease
Movement Disorders
2025
40
12
2732-2745

Yarahmadi, Fereshteh;Shoiebi, Ali;Shariati, Mohammad;Zech, Michael;Sadr-Nabavi, Ariane
Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms
Neurological Sciences
2025
46
11
5657-5669

Brooker, Sarah M.;Novelli, Maria;Coukos, Robert;Prakash, Neha;Kamel, Walaa A.;Amengual‐Gual, Marta;Anheim, Mathieu;Barcia, Giulia;Bardakjian, Tanya;Baur, Franciska;Berweck, Steffen;Bölsterli, Bigna K.;Brugger, Melanie;Cassini, Thomas;Chatron, Nicolas;Corner, Brian;Dafsari, Hormos Salimi;de Sainte Agathe, Jean‐Madeleine;Ellis, Colin A.;Ezell, Kimberly M.;Foucard, Cendrine;Frucht, Steven J.;Garcia, Maria C.;Gill, Deepak;Guimier, Anne;Hamid, Rizwan;Heine‐Suñer, Damià;Herkenrath, Peter;Hully, Marie;Isaias, Ioannis U.;Januel, Louis;Laurencin, Chloe;Laut, Taylor;Lavillaureix, Alinoe;Lesca, Gaetan;Lesieur‐Sebellin, Marion;Magistrelli, Luca;Marelli, Cecilia;Mefford, Heather C.;Mendelsohn, Bryce A.;Mercimek‐Andrews, Saadet;Miller, Claire;Mohammad, Shekeeb S.;Morgante, Francesca;Nandipati, Sirisha;Opladen, Thomas;Padmanaban, Mahesh;Pauni, Micaela;Pezzoli, Gianni;Piton, Amelie;Ramond, Francis;Riboldi, Giulietta M.;Rougeot‐Jung, Christelle;Santos‐Simarro, Fernando;Scheffer, Ingrid E.;Serari, Naoual;Stahl, Christine M.;Kung, Ann Stembridge;Tarongí Sanchez, Susana;Thauvin‐Robinet, Christel;Till, Marianne;Tranchant, Christine;Troedson, Christopher;Tropea, Thomas F.;Vanakker, Olivier;Vega, Patricia;Wiese, Maxi Leona;Wieshmann, Udo;Williams, Laura J.;Wirth, Thomas;Zech, Michael;Zempel, Hans;Roze, Emmanuel;Leuzzi, Vincenzo;Galosi, Serena;Fung, Victor S. C.;Carvill, Gemma;Krainc, Dimitri;Gerard, Elizabeth;Mencacci, Niccolò E.
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
Annals of Neurology
2025
98
3
561-572

Svorenova, Tatiana;Romito, Luigi M.;Kaymak, Ahmet;Mulroy, Eoin;Cif, Laura;Moro, Elena;Zeuner, Kirsten E.;Zittel, Simone;Petry‐Schmelzer, Jan Niklas;Gruber, Doreen;Centen, Liesanne;Albanese, Alberto;Ostrozovicova, Miriama;Han, Vladimir;Magocova, Veronika;Knorovsky, Kamil;Kollova, Aurelia;Garavaglia, Barbara;Golfrè‐Andreasi, Nico;Reale, Chiara;Mazzoni, Alberto;Zorzi, Giovanna;Eleopra, Roberto;Levi, Vincenzo;Foltynie, Thomas;Limousin, Patricia;Akram, Harith;Zrinzo, Ludvic;Magrinelli, Francesca;Murphy, David;Houlden, Henry;Kurian, Manju A.;Baiata, Claudio;Paschen, Steffen;Lohmann, Katja;Volkmann, Jens;Hamel, Wolfgang;Barbe, Michael T.;van Egmond, Martje E.;Tijssen, MAJ;Ambro, Lubos;Jurkova, Veronika;Jech, Robert;Havrankova, Petra;Winkelmann, Juliane;Zech, Michael;Skorvanek, Matej
Deep Brain Stimulation for VPS16 ‐Related Dystonia: A Multicenter Study
Annals of Neurology
2025
98
4
711-725