Eral Neuropathies Mutation Databases. http://www. molgen.ua.ac.be/cmtm…
페이지 정보
작성자 Maureen Gilruth 작성일24-04-27 03:47 조회4회 댓글0건관련링크
본문
Eral Neuropathies Mutation Databases. http://www. molgen.ua.ac.be/cmtmutations/Mutations/Default.cfm. six. Pareyson D, Scaioli V, Laura M: Medical and electrophysiological components of Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8:three?two. 7. Reilly MM: Checking out the inherited neuropathies. Pract Neurol 2007, seven:93?05. 8. Harding AE, Thomas PK: The clinical attributes of hereditary motor and sensory neuropathy sorts I and II. Brain 1980, 103:259?eighty. 9. Nicholson G, Myers S: Intermediate kinds of Charcot-Marie-Tooth neuropathy: an evaluation. Neuromolecular Med 2006, eight:123?thirty. 10. Davis CJ, Bradley WG, Madrid R: The peroneal muscular atrophy syndrome: medical, genetic, electrophysiological and nerve biopsy scientific tests. I. Scientific, genetic and electrophysiological findings and classification. J Genet Hum 1978, 26:311?49.van Paassen et al. Orphanet Journal of Unusual Illnesses 2014, 9:38 http://www.ojrd.com/content/9/1/Page eleven PRIMA-1 of11. Rossi A, Paradiso C, Cioni R, Rizzuto N, Guazzi G: Charcot-Marie-Tooth sickness: examine of a big kinship having an intermediate kind. J Neurol 1985, 232:ninety one?eight. 12. Madrid R, Bradley WG, Davis CJ: The peroneal muscular atrophy syndrome. Scientific, genetic, electrophysiological and nerve biopsy scientific tests. Component two. Observations on pathological improvements in sural nerve biopsies. J Neurol Sci 1977, 32:91?22. thirteen. Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A: Charcot-Marie-Tooth ailment with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat 1997, ten:443?52. fourteen. Gabreels-Festen AA, Gabreels FJ, Jennekens FG: Hereditary motor and sensory neuropathies. Current standing of kinds I, II and III. Clin Neurol Neurosurg 1993, 95:93?07. fifteen. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA: Duplication in chromosome 17p11.two in Charcot-Marie-Tooth neuropathy variety 1a (CMT 1a). The HMSN Collaborative Investigation Group. Neuromuscul Disord 1991, 1:93?7. 16. Lupski JR, De Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI: DNA duplication associated with Charcot-Marie-Tooth condition type 1A. Cell 1991, sixty six:219?32. seventeen. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U: The gene for that peripheral myelin protein PMP-22 is actually a prospect for Charcot-Marie-Tooth disorder PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/8627573 PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/22316373 variety 1A. Nat Genet 1992, one:159?sixty five. 18. Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, Van Ommen GJB, Martin JJ, M ler HW, Vance JM, Fischbeck KH, Van Broeckhoven C: The peripheral myelin protein gene PMP-22 is contained in just the Charcot-Marie-Tooth disorder type 1A duplication [published erratum appears in Nat Genet 1992 Sep;two(one):84]. Nat Genet 1992, 1:171?75. 19. Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, Van Ommen GJB, Baas F: The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot- Marie-Tooth sickness sort 1A. Nat Genet 1992, one:166?70. twenty. Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Chook TD, White R, Likelihood PF: Peripheral myelin protein-22 ge.
댓글목록
등록된 댓글이 없습니다.