The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases

Neurogenetics

Volumn 14, Issue 1, 2013, Pages 53-61

  Arning, Larissa ^a   Epplen, Jörg T ^a   Rahikkala, Elisa ^b   Hendrich, Corinna ^c,e   Ludolph, Albert C ^c   Sperfeld, Anne Dorte ^c,d  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF ULM   (Germany)

^d Neurologische Klinik   (Germany)

^e Neurologische Klinik   (Germany)

Author keywords

ALS4; AOA2; Ataxia; Missense mutations; SETX amyotrophic lateral sclerosis

Indexed keywords

AMINO ACID; PROTEIN; SENATAXIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS 4; ARTICLE; EXON; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOTOR NEURON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA HELICASES;

EID: 84873712194     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0347-4     Document Type: Article

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