CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: A cross-sectional analysis

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 86, Issue 8, 2015, Pages 873-878

  Fridman, V ^a   Bundy, B ^b   Reilly, M M ^c   Pareyson, D ^d   Bacon, C ^e   Burns, J ^f   Day, J ^g   Feely, S ^e,h   Finkel, R S ⁱ   Grider, T ^e   Kirk, C A ^b   Herrmann, D N ^j   Laura M ^c   Li, J ^k   Lloyd, T ^l   Sumner, C J ^l   Muntoni, F ^m   Piscosquito, G ^d   Ramchandren, S ^h,n   Shy, R ^e,h   Siskind, C E ^g   Yum, S W ^o,p   Moroni, I ^d   Pagliano, E ^d   Zuchner, S ^q   Scherer, S S ^p   Shy, M E ^e,h   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^f UNIVERSITY OF SYDNEY   (Australia)

^g STANFORD UNIVERSITY   (United States)

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

ⁱ NEMOURS CHILDREN S HOSPITAL   (United States)

^j UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^k VANDERBILT UNIVERSITY   (United States)

^l JOHNS HOPKINS HOSPITAL   (United States)

^m GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^o CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^p HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^q UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOFUSIN 2; MONOCARBOXYLATE TRANSPORTER 1; PERIPHERAL MYELIN PROTEIN 22; CDRT1 PROTEIN, HUMAN; CELL CYCLE PROTEIN; CONNEXIN 32; GAP JUNCTION PROTEIN; GUANOSINE TRIPHOSPHATASE; MAD2L1BP PROTEIN, HUMAN; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; MPZ PROTEIN, HUMAN; MYELIN PROTEIN; NUCLEAR PROTEIN; PMP22 PROTEIN, HUMAN; PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; ARTICLE; CMT EXAMINATION SCORE; CMT NEUROPATHY SCORE; CROSS-SECTIONAL STUDY; DISEASE BURDEN; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; GENE; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; GENERAL ASPECTS OF DISEASE; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MCT1 GENE; MFN2 GENE; MPZ GENE; PMP22 GENE; PRIORITY JOURNAL; SCORING SYSTEM; CLASSIFICATION; COST OF ILLNESS; GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; COST OF ILLNESS; CROSS-SECTIONAL STUDIES; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; NUCLEAR PROTEINS; PROTEINS;

EID: 84940645158     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-308826     Document Type: Article

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