FALS with Gly72Ser mutation in SOD1 gene: Report of a family including the first autopsy case

Journal of the Neurological Sciences

Volumn 300, Issue 1-2, 2011, Pages 9-13

  Kobayashi, Zen ^a,b   Tsuchiya, Kuniaki ^a   Kubodera, Takayuki ^b   Shibata, Noriyuki ^c   Arai, Tetsuaki ^a,d   Miura, Hiroyuki ^e   Ishikawa, Chieko ^f   Kondo, Hiromi ^a   Ishizu, Hideki ^g   Akiyama, Haruhiko ^a   Mizusawa, Hidehiro ^b  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d UNIVERSITY OF TSUKUBA   (Japan)

^e Ichihara Hospital   (Japan)

^f SAKURA NATIONAL HOSPITAL   (Japan)

^g Zikei Institute of Psychiatry   (Japan)

Author keywords

Cu Zn superoxide dismutase 1 (SOD1); Familial amyotrophic lateral sclerosis (FALS); Gly72Ser; Hyaline inclusion; Onuf's nucleus

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPSY; CASE REPORT; FAMILIAL DISEASE; FATALITY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; JAPANESE; MALE; MOTOR NEURON DISEASE; MUSCLE WEAKNESS; PEDIGREE; PRIORITY JOURNAL; RESPIRATORY FAILURE; THIGH;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; HUMANS; MALE; MOTOR NEURONS; MUTATION, MISSENSE; NERVE DEGENERATION; PEDIGREE; SPINAL CORD; SUPEROXIDE DISMUTASE;

EID: 78650509730     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.10.030     Document Type: Article

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