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The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 320 - 329
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 07/2015, Volume 85, Issue 4, pp. 383 - 384
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT), is a genetically heterogeneous disorder that affects both... 
RESPIRATORY-DISTRESS TYPE-1 | SPINAL MUSCULAR-ATROPHY | CLINICAL NEUROLOGY | DISEASE | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Female | Male | Mutation | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Child | Clinical | Scientific Notes | 181
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1507 - 1515
Charcot–Marie–Tooth (CMT) is a common neuropathy, and hereditary motor and sensory neuropathy with proximal predominance (HMSN‐P) is a recently described rare... 
tropomyosin‐receptor kinase fused gene | CMT | HMSN‐P | TFG | p.(Gly269Val) | tropomyosin-receptor kinase fused gene | HMSN-P | INVOLVEMENT | DISORDERS | p | Gly269Val | SH3TC2 | SPASTIC PARAPLEGIA | DISEASE | GENETICS & HEREDITY | TRK-FUSED GENE | Muscle proteins | Disease susceptibility | Genetic aspects | Phenotypes | Neuropathy | Mutation | Mental disorders | Pedigree | Charcot-Marie-Tooth disease
Journal Article
Neuropediatrics, ISSN 0174-304X, 12/2017, Volume 48, Issue 6, pp. 420 - 425
Abstract Objective  This study aims to compare mechanography, measuring force in jumping, and rising, with the 6-minute walk test (6MWT) and time function... 
Original Article | hereditary motor and sensory neuropathy | single two-legged jump | jumping mechanography | chair rising test | outcome measures | 6-MINUTE WALK TEST | POWER | RELIABILITY | NATURAL-HISTORY | CLINICAL NEUROLOGY | CHILDHOOD REFERENCES | HEALTHY-CHILDREN | MUSCLE FUNCTION | DISEASE | PEDIATRICS | BED REST | VALIDITY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2000, Volume 67, Issue 1, pp. 47 - 58
Journal Article