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Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations

BACKGROUND: Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rar...

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Detalles Bibliográficos
Autores principales: Wang, Peishan, Wei, Qiao, Li, Hongfu, Wu, Zhi-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106144/
https://www.ncbi.nlm.nih.gov/pubmed/36801857
http://dx.doi.org/10.1097/CM9.0000000000002495