A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course

Muscle and Nerve

Volumn 42, Issue 4, 2010, Pages 596-597

  Georgoulopoulou, Eleni ^a   Gellera, Cinzia ^b   Bragato, Cinzia ^b   Sola, Patrizia ^a   Chiari, Annalisa ^a   Bernabei, Chiara ^a   Mandrioli, Jessica ^a  

^a Nuovo Ospedale S Agostino   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Amyotrophic lateral sclerosis; Atypical natural history; D11Y; Slow progression; SOD1 mutation

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; ASPARTIC ACID; SUPEROXIDE DISMUTASE; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; DISEASE COURSE; ELECTROMYOGRAPHY; FASCICULATION; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; MUSCLE WEAKNESS; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ATROPHY; ENZYMOLOGY; GENETICS; LEG; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PERIPHERAL NERVE; SKELETAL MUSCLE; TIME;

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ASPARTIC ACID; ATROPHY; DISEASE PROGRESSION; ELECTROMYOGRAPHY; HUMANS; LEG; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; PERIPHERAL NERVES; PHENOTYPE; SUPEROXIDE DISMUTASE; TIME FACTORS; TYROSINE;

EID: 77957683834     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21750     Document Type: Article

References (10)

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