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Longer titles found: Hereditary motor and sensory neuropathy with proximal dominance (view)

searching for Hereditary motor and sensory neuropathy 18 found (29 total)

alternate case: hereditary motor and sensory neuropathy

Vincent Timmerman (245 words) [view diff] case mismatch in snippet view article find links to article

peripheral neuropathy is Charcot-Marie-Tooth (CMT) disease or Hereditary Motor and Sensory Neuropathy (HMSN). Vincent Timmerman obtained a PhD at the University

Andermann syndrome (1,619 words) [view diff] case mismatch in snippet view article find links to article

Nicolas; Howard, Heidi C.; Rouleau, Guy A. (1993-01-01). "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum". In Pagon, Roberta

Pes cavus (1,972 words) [view diff] case mismatch in snippet view article find links to article

Pes cavus is sometimes—but not always—connected through Hereditary Motor and Sensory Neuropathy Type 1 (Charcot-Marie-Tooth disease) and Friedreich's Ataxia;

CMTX3 (173 words) [view diff] exact match in snippet view article find links to article

Koopman WJ, Feasby TE (October 1990). "X-linked dominant hereditary motor and sensory neuropathy". Brain. 113 ( Pt 5) (5): 1511–25. doi:10.1093/brain/113

Myelin protein zero (2,227 words) [view diff] exact match in snippet view article find links to article

Conchin TE (February 1987). "The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN

SBF2 (641 words) [view diff] exact match in snippet view article find links to article

(1998). "Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)". Neurology

Dystonin (1,478 words) [view diff] exact match in snippet view article find links to article

(October 2020). "Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy". Neurology. Genetics. 6 (5): e496. doi:10.1212/NXG.0000000000000496

SLC12A6 (787 words) [view diff] case mismatch in snippet view article find links to article

(potassium/chloride transporters), member 6". GeneReview/NIH/UW entry on Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Race JE, Makhlouf

HSPB8 (1,282 words) [view diff] exact match in snippet view article find links to article

Figols J, Calleja J, Cabello A, Silos I, Coria F (1986). "Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family". Brain

GDAP1 (1,109 words) [view diff] case mismatch in snippet view article find links to article

Stephan; Vance, Jeffery M (2013-02-28). "GDAP1-Related Hereditary Motor and Sensory Neuropathy". Charcot-Marie-Tooth Neuropathy Type 4A. University of

NDRG2 (1,072 words) [view diff] exact match in snippet view article find links to article

2000). "N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom". Am J Hum Genet. 67 (1): 47–58. doi:10.1086/302978

Redento D. Ferranti (706 words) [view diff] case mismatch in snippet view article find links to article

Redento (1987). "Diaphragmatic Dysfunction in Siblings with Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease)". Chest. 91 (4): 567–570

RAB7A (2,313 words) [view diff] exact match in snippet view article find links to article

regulators. Also known as Charcot–Marie–Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy (PMA). This is a genetically

HK1 (3,048 words) [view diff] exact match in snippet view article find links to article

Charcot–Marie–Tooth disease, also known as Russe-type hereditary motor and sensory neuropathy (HMSNR). Changes in hexokinase 1 have also been identified

USP6 (1,947 words) [view diff] exact match in snippet view article find links to article

Valentijn LJ, Baas F, et al. (May 1992). "De-novo mutation in hereditary motor and sensory neuropathy type I". Lancet. 339 (8801): 1081–2. doi:10.1016/0140-6736(92)90668-S

NDRG1 (2,179 words) [view diff] exact match in snippet view article find links to article

2000). "N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom". American Journal of Human Genetics. 67 (1): 47–58

MFN2 (3,260 words) [view diff] exact match in snippet view article find links to article

et al. (November 2008). "Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

telangiectasia-2; 600376; ACVRL1 Hereditary motor and sensory neuropathy VI; 601152; MFN2 Hereditary motor and sensory neuropathy, type IIc; 606071; TRPV4 Hermansky–Pudlak