A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: A clinical, pathological and genetic report

Journal of the Neurological Sciences

Volumn 296, Issue 1-2, 2010, Pages 59-63

  Yamamoto Watanabe, Yukiko ^a   Watanabe, Mitsunori ^a,b   Okamoto, Koichi ^b   Fujita, Yukio ^b   Jackson, Mandy ^c   Ikeda, Masaki ^b   Nakazato, Yoichi ^b   Ikeda, Yoshio ^d   Matsubara, Etsuro ^a   Kawarabayashi, Takeshi ^a   Shoji, Mikio ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b GUNMA UNIVERSITY   (Japan)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d OKAYAMA UNIVERSITY   (Japan)

Author keywords

ALS6; Familial amyotrophic lateral sclerosis; FUS TLS; Phenotype; Proximal muscle atrophy; Sternocleidomastoideus

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; FUS GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL; STERNOCLEIDOMASTOID MUSCLE; TLS GENE;

ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; DNA; EXONS; FEMALE; GAIT DISORDERS, NEUROLOGIC; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; JAPAN; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEIN FUS; SPINAL CORD;

EID: 77956872843     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.06.008     Document Type: Article

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