Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: Possible association of mental retardation with this mutation

Journal of Neurology

Volumn 259, Issue 6, 2012, Pages 1039-1044

  Yamashita, Satoshi ^a   Mori, Akira ^a,c   Sakaguchi, Hideya ^a   Suga, Tomohiro ^a,c   Ishihara, Daijirou ^b   Ueda, Akihiko ^a   Yamashita, Taro ^a   Maeda, Yasushi ^a   Uchino, Makoto ^a,c   Hirano, Teruyuki ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b Omuta Tenryo Hospital   (Japan)

^c Jonan Hospital   (Japan)

Author keywords

Cognitive function; Cytoplasmic localization; Deletion frameshift; Fused in sarcoma translocated in liposarcoma; Juvenile amyotrophic lateral sclerosis; Mental retardation

Indexed keywords

FUSED IN SARCOMA PROTEIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN STEM; CASE REPORT; CELLULAR DISTRIBUTION; CHADDOCK REFLEX; CINGULATE GYRUS; COGNITION; CYTOPLASM; DISEASE ASSOCIATION; DYSARTHRIA; DYSPHAGIA; ELECTROMYOGRAPHY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTELLIGENCE QUOTIENT; JAW OPENING REFLEX; LIMB WEAKNESS; LUNG FUNCTION TEST; MALE; MENTAL DEFICIENCY; MENTAL DEVELOPMENT; NEUROIMAGING; NEUROLOGIC EXAMINATION; NONINVASIVE POSITIVE PRESSURE VENTILATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERFUSION; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; REFLEX; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPORADIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS; TENDON REFLEX; WEIGHT REDUCTION;

ADOLESCENT; AGE FACTORS; AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; RNA-BINDING PROTEIN FUS; YOUNG ADULT;

EID: 84862755998     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6292-6     Document Type: Article

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