Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 14, Issue 7-8, 2013, Pages 608-614

  Kuźma Kozakiewicz, Magdalena ^a   Berdyński, Mariusz ^b   Morita, Mitsuya ^c   Takahashi, Yuji ^d   Kawata, Akihiro ^e   Kaida, Ken Ichi ^f   Kaźmierczak, Beata ^a   Łusakowska, Anna ^a   Goto, Jun ^d   Tsuji, Shoji ^d   Zekanowski, Cezary ^b   Kwieciński, Hubert ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^c JICHI MEDICAL UNIVERSITY   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^f NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

Author keywords

FALS; Recurrent mutation; SALS; SOD1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BULBAR PARALYSIS; CONTROLLED STUDY; COPPER ZINC SUPEROXIDE DISMUTASE GENE; DEEP TENDON REFLEX; DIAGNOSIS; DYSARTHRIA; DYSPHAGIA; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HIGH THROUGHPUT SEQUENCING; HUMAN; JAPANESE; K3E MUTATION; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; ONSET AGE; PHENOTYPE; POLAND; PRIORITY JOURNAL; PROTEIN STRUCTURE; RESPIRATORY FAILURE; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS; SURVIVAL; TENDON REFLEX; WALKING;

ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLAND; SUPEROXIDE DISMUTASE; YOUNG ADULT;

EID: 84887814900     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.812119     Document Type: Article

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