Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Annals of Neurology

Volumn 51, Issue 6, 2002, Pages 709-715

  Takashima, Hiroshi ^a   Boerkoel, Cornelius F ^a   De Jonghe, Peter ^b,d   Ceuterick, Chantal ^c   Martin, Jean Jacques ^c   Voit, Thomas ^e   Schröder, J Michael ^f   Williams, Anna ^g   Brophy, Peter J ^g   Timmerman, Vincent ^b   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f RWTH AACHEN UNIVERSITY   (Germany)

^g UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PERIAXIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; DEMYELINATING NEUROPATHY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MOTOR DYSFUNCTION; NEUROPATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SENSORY DYSFUNCTION; SENSORY NEUROPATHY; SIBLING;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SURAL NERVE;

EID: 0036267227     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10213     Document Type: Article

References (21)

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