Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

Brain

Volumn 138, Issue 11, 2015, Pages 3180-3192

  Sanmaneechai, Oranee ^a,b   Feely, Shawna ^a   Scherer, Steven S ^c   Herrmann, David N ^d   Burns, Joshua ^e   Muntoni, Francesco ^f   Li, Jun ^g   Siskind, Carly E ^h   Day, John W ^h   Laura, Matilde ⁱ   Sumner, Charlotte J ^j   Lloyd, Thomas E ^j   Ramchandren, Sindhu ^k   Shy, Rosemary R ^a   Grider, Tiffany ^a   Bacon, Chelsea ^a   Finkel, Richard S ^l   Yum, Sabrina W ^c,m   Moroni, Isabella ⁿ   Piscosquito, Giuseppe ⁿ   Pareyson, Davide ⁿ   Reilly, Mary M ⁱ   Shy, Michael E ^a   more..

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

^b MAHIDOL UNIVERSITY   (Thailand)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^e UNIVERSITY OF SYDNEY   (Australia)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^h STANFORD UNIVERSITY   (United States)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^l NEMOURS CHILDREN S HOSPITAL   (United States)

^m CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁿ DEPARTMENT OF NEUROSURGERY   (Italy)

more..

Author keywords

CMT1B; demyelination; MPZ; myelin, neuropathy

Indexed keywords

ADOLESCENT; ADULT; ADULTHOOD; AGED; ANKLE FOOT ORTHOSIS; ARTICLE; BRACE; CHARCOT MARIE TOOTH DISEASE PEDIATRIC SCALE; CHILD; CHILDHOOD; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR NERVE CONDUCTION; MUTATIONAL ANALYSIS; MYELIN PROTEIN ZERO GENE; NERVE FIBER DEGENERATION; ONSET AGE; ORTHOPEDIC SHOE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RATING SCALE; SCOLIOSIS; SECOND DEGREE RELATIVE; SENSORY NERVE CONDUCTION VELOCITY; WALKING AID; WALKING DIFFICULTY; WHEELCHAIR; COHORT ANALYSIS; COMPLICATION; DEMYELINATING DISEASE; GENETICS; GENOTYPE; HEARING LOSS; MIDDLE AGED; NERVE CONDUCTION; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

MPZ PROTEIN, HUMAN; MYELIN PROTEIN;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DEMYELINATING DISEASES; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; MOBILITY LIMITATION; MYELIN P0 PROTEIN; NEURAL CONDUCTION; PHENOTYPE; SCOLIOSIS; YOUNG ADULT;

EID: 84947748583     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv241     Document Type: Article

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