Indelicato, Elisabetta;Boesch, Sylvia;Mencacci, Niccolo' E.;Ghezzi, Daniele;Prokisch, Holger;Winkelmann, Juliane;Zech, Michael
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
Movement Disorders
2023
39
1
29-35

Paul, Maimuna S.;Michener, Sydney L.;Pan, Hongling;Chan, Hiuling;Pfliger, Jessica M.;Rosenfeld, Jill A.;Lerma, Vanesa C.;Tran, Alyssa;Longley, Megan A.;Lewis, Richard A.;Weisz-Hubshman, Monika;Bekheirnia, Mir Reza;Bekheirnia, Nasim;Massingham, Lauren;Zech, Michael;Wagner, Matias;Engels, Hartmut;Cremer, Kirsten;Mangold, Elisabeth;Peters, Sophia;Trautmann, Jessica;Perne, Claudia;Mester, Jessica L.;Guillen Sacoto, Maria J.;Person, Richard;McDonnell, Pamela P.;Cohen, Stacey R.;Lusk, Laina;Cohen, Ana S.A.;Le Pichon, Jean-Baptiste;Pastinen, Tomi;Zhou, Dihong;Engleman, Kendra;Racine, Caroline;Faivre, Laurence;Moutton, Sébastien;Denommé-Pichon, Anne-Sophie;Koh, Hyun Yong;Poduri, Annapurna;Bolton, Jeffrey;Knopp, Cordula;Julia Suh, Dong Sun;Maier, Andrea;Toosi, Mehran Beiraghi;Karimiani, Ehsan Ghayoor;Maroofian, Reza;Schaefer, Gerald Bradley;Ramakumaran, Vijayalakshmi;Vasudevan, Pradeep;Banos-Pinero, Benito;Pagnamenta, Alistair T.;Prasad, Chitra;Osmond, Matthew;Schuhmann, Sarah;Vasileiou, Georgia;Russ-Hall, Sophie;Scheffer, Ingrid E.;Carvill, Gemma L.;Mefford, Heather;Bacino, Carlos A.;Lee, Brendan H.;Chao (趙孝端), Hsiao-Tuan
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics
2024
111
6
1239

Monfrini, Edoardo;Avanzino, Laura;Palermo, Giovanni;Bonato, Giulia;Brescia, Gloria;Ceravolo, Roberto;Cantarella, Giovanna;Mandich, Paola;Prokisch, Holger;Storm van's Gravesande, Karin;Straccia, Giulia;Elia, Antonio;Reale, Chiara;Panteghini, Celeste;Zorzi, Giovanna;Eleopra, Roberto;Erro, Roberto;Carecchio, Miryam;Garavaglia, Barbara;Zech, Michael;Romito, Luigi;Di Fonzo, Alessio
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia
Movement Disorders Clinical Practice
2023
11
1
87-93

Indelicato, Elisabetta;Boesch, Sylvia;Havrankova, Petra;Příhodová, Iva;Winkelmann, Juliane;Jech, Robert;Zech, Michael
SOXopathies and dystonia: Consolidation of a recurrent association
Parkinsonism & Related Disorders
2024
119
105960

Zech, Michael;Winkelmann, Juliane
Next-generation sequencing and bioinformatics in rare movement disorders
Nature Reviews Neurology
2024
20
2
114-126

Sorrentino, Ugo;Boesch, Sylvia;Doummar, Diane;Ravelli, Claudia;Serranova, Tereza;Indelicato, Elisabetta;Winkelmann, Juliane;Burglen, Lydie;Jech, Robert;Zech, Michael
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes
Journal of Neurology
2024
271
5
2859-2865

Indelicato, Elisabetta;Romito, Luigi Michele;Harrer, Philip;Golfrè Andreasi, Nico;Colangelo, Isabel;Kopajtich, Robert;Winkelmann, Juliane;Prokisch, Holger;Garavaglia, Barbara;Zech, Michael
Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders
Movement Disorders
2024
39
7
1237-1238

Indelicato, Elisabetta;Boesch, Sylvia;Zech, Michael
Heterogeneous Phenotypic Evolution in ANO3‐Related Dystonia Due to the Recurrent p.Glu510Lys Variant
Movement Disorders
2024
39
3
631-632

Sorrentino, Ugo;Romito, Luigi M.;Garavaglia, Barbara;Fichera, Mario;Colangelo, Isabel;Prokisch, Holger;Winkelmann, Juliane;Necpal, Jan;Jech, Robert;Zech, Michael
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
Tremor and Other Hyperkinetic Movements
2024
14
1

Indelicato, Elisabetta;Schlieben, Lea D.;Stenton, Sarah L.;Boesch, Sylvia;Skorvanek, Matej;Necpal, Jan;Jech, Robert;Winkelmann, Juliane;Prokisch, Holger;Zech, Michael
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
Journal of Neurology
2024
271
7
4685-4692