Four familial ALS pedigrees discordant for two SOD1 mutations: Are all SOD1 mutations pathogenic?

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 5, 2010, Pages 572-577

  Felbecker, Ansgar ^a   Camu, William ^b   Valdmanis, Paul N ^c   Sperfeld, Anne Dorte ^a   Waibel, Stefan ^a   Steinbach, Peter ^a   Rouleau, Guy A ^c   Ludolph, Albert C ^a   Andersen, Peter M ^a,d  

^a UNIVERSITY OF ULM   (Germany)

^b GUI DE CHAULIAC HOSPITAL   (France)

^c UNIVERSITY OF MONTREAL   (Canada)

^d UMEÅ UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; DNA; SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; FAMILIAL DISEASE; FAMILY STUDY; FINLAND; FRANCE; GENE MUTATION; GENE SEGREGATION; GERMANY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SWEDEN; WILD TYPE; ALLELE; DISEASE COURSE; DOMINANT GENE; FEMALE; GENETICS; HAPLOTYPE; MALE; MIDDLE AGED; MUTATION; ONSET AGE; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; RECESSIVE GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; AGE OF ONSET; AGED; ALLELES; AMYOTROPHIC LATERAL SCLEROSIS; DISEASE PROGRESSION; DNA; FEMALE; FINLAND; GENES, DOMINANT; GENES, RECESSIVE; GERMANY; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SUPEROXIDE DISMUTASE; SWEDEN;

EID: 77952570883     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.192310     Document Type: Article

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