Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Neurology

Volumn 77, Issue 6, 2011, Pages 540-548

  Zimon M ^a,b   Baets, J ^a,b,c   Fabrizi, G M ^d   Jaakkola, E ^e   Kabzinska D ^f   Pilch, J ^g   Schindler, A B ^h   Cornblath, D R ⁱ   Fischbeck, K H ^h   Auer Grumbach, M ^j   Guelly, C ^k   Huber, N ^l   De Vriendt, E ^a,b   Timmerman, V ^a,b   Suter, U ^l   Hausmanowa Petrusewicz, I ^f   Niemann, A ^l   Kochanski A ^f   De Jonghe, P ^a,b,c   Jordanova, A ^a,b  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY OF VERONA   (Italy)

^e OULU UNIVERSITY HOSPITAL   (Finland)

^f MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^g MEDICAL UNIVERSITY OF SILESIA   (Poland)

^h NATIONAL INSTITUTES OF HEALTH   (United States)

ⁱ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j MEDICAL UNIVERSITY OF VIENNA   (Austria)

^k MEDICAL UNIVERSITY OF GRAZ   (Austria)

^l ETH ZURICH   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GANGLIOSIDE; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; UNCLASSIFIED DRUG; GDAP PROTEIN; NERVE PROTEIN;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DISEASE COURSE; ELECTROPHYSIOLOGY; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GIANT AXONAL NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; COHORT ANALYSIS; DOMINANT GENE; EXON; GENETICS; HAPLOTYPE; HELA CELL; INTRON; METABOLISM; MITOCHONDRION; MUTATION; NERVE FIBER; PATERNITY; PATHOLOGY; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALS; AXONS; CERCOPITHECUS AETHIOPS; CHARCOT-MARIE-TOOTH DISEASE; COHORT STUDIES; COS CELLS; DNA MUTATIONAL ANALYSIS; EXONS; GENES, DOMINANT; HAPLOTYPES; HELA CELLS; HUMANS; INTRONS; MITOCHONDRIA; MUTATION; NERVE TISSUE PROTEINS; PATERNITY; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 80052917055     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318228fc70     Document Type: Article

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