Neuropathy in a human without the PMP22 gene

Archives of Neurology

Volumn 68, Issue 6, 2011, Pages 814-821

  Saporta, Mario Andre ^a   Katona, Istvan ^d   Zhang, Xuebao ^b   Roper, Helen P ^e   McClelland, Louise ^f   Macdonald, Fiona ^f   Brueton, Louise ^g   Blake, Julian ^h   Suter, Ueli ⁱ   Reilly, Mary M ^h   Shy, Michael E ^a   Li, Jun ^b,c  

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

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Tennessee Valley Healthcare System   (United States)

^d RWTH AACHEN UNIVERSITY   (Germany)

^e BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^f West Midlands Regional Genetics Laboratory   (United Kingdom)

^g BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN; PERIPHERAL MYELIN PROTEIN 22;

ALLELE; ANIMAL TISSUE; ARTICLE; ATAXIA; CASE REPORT; CELL MATURATION; CHILD; CHROMOSOME BAND; ELECTRON MICROSCOPY; EMBRYO DEVELOPMENT; FEMALE; GAIT DISORDER; GANGLION; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOTONEURON; MOTOR DYSFUNCTION; MOUSE; MUSCLE WEAKNESS; NEUROPATHY; NONHUMAN; PATHOGENESIS; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PMP22 GENE; PRIORITY JOURNAL; PROPRIOCEPTION; PROTEIN PROCESSING; SCHOOL CHILD; SCHWANN CELL; SENSORY DYSFUNCTION; TEMPORAL SUMMATION;

ANIMALS; CHILD; DEMYELINATING DISEASES; DISEASE MODELS, ANIMAL; GENE DELETION; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MICE; MICE, KNOCKOUT; MYELIN PROTEINS;

EID: 79958758627     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.110     Document Type: Article

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