Exome sequencing reveals SPG11 mutations causing juvenile ALS

Neurobiology of Aging

Volumn 33, Issue 4, 2012, Pages 839.e5-839.e9

  Daoud, Hussein ^a   Zhou, Sirui ^a   Noreau, Anne ^a   Sabbagh, Mike ^a   Belzil, Veronique ^a   Dionne Laporte, Alexandre ^a   Tranchant, Christine ^b   Dion, Patrick ^a,c   Rouleau, Guy A ^a,d  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

ARJALS; HSP TCC; SPG11

Indexed keywords

GENOMIC DNA;

ADOLESCENT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE JUVENILE AMYOTROPHIC LATERAL SCLEROSIS; CLINICAL ARTICLE; DNA SEQUENCE; EXOME; EXON; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SPG11 GENE; STOP CODON;

EID: 84856970463     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2011.11.012     Document Type: Article

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