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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2023
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| 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 |