The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time. Clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree

Journal of the Neurological Sciences

Volumn 285, Issue 1-2, 2009, Pages 46-53

  Syriani, Enrique ^a,b   Morales, Miguel ^b   Gamez, Josep ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

Author keywords

ALS1; Amyotrophic lateral sclerosis; E21G; Epidemiology; Familial amyotrophic lateral sclerosis; Glutamic acid; MIM 105400; p.E22G; Phenotype; SOD1 gene; Survival

Indexed keywords

DNA; NUCLEOTIDE;

ADULT; AGED; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRAIT; HUMAN; INFORMED CONSENT; MALE; MEDICAL INFORMATION SYSTEM; MUSCLE CRAMP; MYALGIA; PHENOTYPE; PRIORITY JOURNAL; PROGENY; SEX DIFFERENCE; SEX RATIO; SOD1 GENE; SURVIVAL TIME;

ADULT; AGE OF ONSET; AGED; AMYOTROPHIC LATERAL SCLEROSIS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; LONGEVITY; MALE; MIDDLE AGED; MODELS, MOLECULAR; PEDIGREE; PHENOTYPE; POINT MUTATION; SPAIN; SUPEROXIDE DISMUTASE;

EID: 69549097630     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.05.011     Document Type: Article

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