An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: A genetic and clinical report

Iranian Journal of Basic Medical Sciences

Volumn 17, Issue 10, 2014, Pages 735-739

  Alavi, Afagh ^a   Khani, Marzieh ^a   Nafissi, Shahriar ^b   Shamshiri, Hosein ^b   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Aamyotrophic lateral sclerosis; ALS; P.Val48Phe; SOD1; Superoxide dismutase 1 gene

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; RILUZOLE;

ADULT; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL INHERITANCE; BABINSKI REFLEX; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); DYSPNEA; ELECTROMYOGRAPHY; EXON; FEMALE; FOLLOW UP; FORCED VITAL CAPACITY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LUNG EMBOLISM; LUNG FUNCTION TEST; MAJOR CLINICAL STUDY; MALE; MESENCHYMAL STEM CELL TRANSPLANTATION; MUSCLE ACTION POTENTIAL; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; QUADRIPLEGIA; SEGREGATION ANALYSIS;

EID: 84908212326     PISSN: 20083866     EISSN: 20083874     Source Type: Journal    
DOI: None     Document Type: Article

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