Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

Archives of Neurology

Volumn 64, Issue 7, 2007, Pages 966-970

  Miltenberger Miltenyi, Gabriel ^a   Janecke, Andreas R ^a   Wanschitz, Julia V ^a   Timmerman, Vincent ^b   Windpassinger, Christian ^c,d   Auer Grumbach, Michaela ^d   Löscher, Wolfgang N ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION BETA 1 PROTEIN; MEMBRANE PROTEIN; MYELIN PROTEIN; NEUROFILAMENT LIGHT CHAIN POLYPEPTIDE; PERIPHERAL MYELIN PROTEIN 22; POLYPEPTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DNA SEQUENCE; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROMUSCULAR FUNCTION; PRIORITY JOURNAL; UNIVERSITY HOSPITAL;

ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DNA MUTATIONAL ANALYSIS; ELECTRODIAGNOSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE WEAKNESS; MUTATION; MYELIN PROTEINS; NEURAL CONDUCTION; NEUROFILAMENT PROTEINS; PEDIGREE; PERIPHERAL NERVES; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 34447260902     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.7.966     Document Type: Article

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