Cargando…

Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

BACKGROUND: Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is...

Descripción completa

Detalles Bibliográficos
Autores principales: Sedghi, Maryam, Moslemi, Ali‐Reza, Olive, Montse, Etemadifar, Masoud, Ansari, Behnaz, Nasiri, Jafar, Emrahi, Leila, Mianesaz, Hamid‐Reza, Laing, Nigel G., Tajsharghi, Homa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856620/
https://www.ncbi.nlm.nih.gov/pubmed/31560180
http://dx.doi.org/10.1002/acn3.50912