Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease

Brain

Volumn 126, Issue 3, 2003, Pages 590-597

  Jordanova, A ^a,h   De Jonghe, P ^a,c   Boerkoel, C F ^d   Takashima, H ^d   De Vriendt, E ^a   Ceuterick, C ^b   Martin, J J ^b   Butler, I J ^e   Mancias, P ^e   Papasozomenos, S Ch ^e   Terespolsky, D ^j   Potocki, L ^d   Brown, C W ^d   Shy, M ^f   Rita, D A ^g   Tournev, I ^h   Kremensky, I ^h   Lupski, J R ^d   Timmerman, Vincent ^a,i  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^f WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g ADVOCATE LUTHERAN GENERAL HOSPITAL   (United States)

^h MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

ⁱ UNIVERSITY OF ANTWERP   (Belgium)

^j NONE

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Author keywords

Mutation analysis; Neurofilament light chain; Peripheral neuropathy

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN ELECTROPHYSIOLOGY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE NEFL; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NERVE CONDUCTION; NERVE FIBER REGENERATION; NEUROFILAMENT; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0037370894     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg059     Document Type: Article

References (10)

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