The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.

Publikation

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.

Wissenschaftlicher Artikel/Review - 15.01.2021

Moisse Matthieu, Zwamborn Ramona A J, Van Vugt Joke J F A, van der Spek Rick, van Rheenen Wouter, Kenna Brendan, van Eijk Kristel R, Kenna Kevin P, Corcia Philippe, Couratier Philippe, Vourc'h Patrick, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian E, Ticozzi Nicola, Silani Vincenzo, de Carvalho Mamede, Mora Jesus S, Povedano Monica, Andersen Peter Munch, Weber Markus, Başak Nazli A, Chen Xiao, Eberle Michael A, Al-Chalabi Ammar, Shaw Christopher E, Openshaw Peter J M, Morrison Karen E, Landers John E, Glass Jonathan D, Robberecht Wim, van Es Michael, Van den Berg Leonard, Veldink Jan H, Van Damme Philip, Project MinE Sequencing Consortium

Zitation

Moisse M, Zwamborn R, Van Vugt J, van der Spek R, van Rheenen W, Kenna B, van Eijk K, Kenna K, Corcia P, Couratier P, Vourc'h P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, de Carvalho M, Mora J, Povedano M, Andersen P, Weber M, Başak N, Chen X, Eberle M, Al-Chalabi A, Shaw C, Openshaw P, Morrison K, Landers J, Glass J, Robberecht W, van Es M, Van den Berg L, Veldink J, Van Damme P, Project MinE Sequencing Consortium. The Effect of SMN Gene Dosage on ALS Risk and Disease Severity. Ann Neurol 2021; 89:686-697.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

Ann Neurol 2021; 89

Veröffentlichungsdatum

15.01.2021

eISSN (Online)

1531-8249

Seiten

686-697

Kurzbeschreibung/Zielsetzung

The role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN deficiency.