![]() Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, et al. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, Herrmann D, et al. Increased severity over generations of Charcot-Marie-Tooth disease type 1A. Steiner I, Gotkine M, Steiner-Birmanns B, Biran I, Silverstein S, Abeliovich D, et al. Clinical predominance of proximal upper limb weakness in CMT1A syndrome. Vol 2: 1623-58.Īuer-Grumbach M, Wagner K, Strasser-Fuchs S, Löscher WN, Fazekas F, Millner M, et al. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. A profound computational study to prioritize the disease-causing mutations in PRPS1 gene. 25 (1):17-9.Īgrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 2 (10):1625-8.īolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. 102 (3):505-514.īen Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, et al. ![]() Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. Hereditary motor and sensory neuropathy type II. 1739:359-369.īerciano J, Combarros O, Figols J, Calleja J, Cabello A, Silos I, et al. Analysis of Myelinating Schwann Cells in Human Skin Biopsies. Overview of Charcot-Marie-Tooth disease type 1A. Transgenic mouse models of CMT1A and HNPP. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2. Ruskamo S, Nieminen T, Kristiansen CK, Vatne GH, Baumann A, Hallin EI, et al. Hereditary motor and sensory neuropathy, types I and II. 14 (6):679-84.Ĭarter GT, Abresch RT, Fowler WM Jr, Johnson ER, Kilmer DD, McDonald CM. ![]() ![]() Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). 27 (5):532-40.īird TD, Ott J, Giblett ER, Chance PF, Sumi SM, Kraft GH. Recent advances in Charcot-Marie-Tooth disease. Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Charcot Marie Tooth disease (CMT): historical perspectives and evolution. New developments in Charcot-Marie-Tooth neuropathy and related diseases. 20 (5 Peripheral Nervous System Disorders):1208-25. Charcot-Marie-Tooth disease and other inherited neuropathies. ||Hereditary neuropathy with liability to pressure palsy Distal weakness, upper limb predominantlyĭistal weakness, lower limb predominantlyĭistal weakness, deafness, mental retardationĭejerine-Sottas syndrome (DSS) or hereditary motor and sensory neuropathy (HMSN) 3ĭistal muscle wasting, foot and hand deformities
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