Cargando…
An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report
OBJECTIVE(S): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing...
Autores principales: | Alavi, Afagh, Khani, Marzieh, Nafissi, Shahriar, Shamshiri, Hosein, Elahi, Elahe |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mashhad University of Medical Sciences
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340979/ https://www.ncbi.nlm.nih.gov/pubmed/25729540 |
Ejemplares similares
-
Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation
por: Khani, Marzieh, et al.
Publicado: (2015) -
Validation of the Persian version of the 40-item amyotrophic lateral sclerosis assessment questionnaire
por: Shamshiri, Hosein, et al.
Publicado: (2013) -
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations
por: Khani, Marzieh, et al.
Publicado: (2020) -
Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report
por: Stępień, Adam, et al.
Publicado: (2020) -
Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree
por: Angelov, Teodor, et al.
Publicado: (2023)