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Ation in Charcot-Marie-Tooth sickness sort 1A. Hum Mol Genet 1993, two:2143?146. 68. Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR: Mechanisms for nonrecurrent genomic rearrangements affiliated with CMT1A or HNPP: unusual CNVs as being a result in for missing heritability. Am J Hum Genet 2010, 86:892?03. 69. Weterman MA, Van Ruissen F, De Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F: Copy amount variation upstream of PMP22 in Charcot-Marie-Tooth disorder. Eur J Hum Genet 2010, eighteen:421?28.70. Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NHA, Zorn I, Gabre s-Festen AAWM, De Visser M, Bolhuis PA: Identical level mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease variety 1A. Nat Genet 1992, 2:288?ninety one. seventy one. Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ: Gene dosage results in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease form 1A and hereditary PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/22993420 neuropathy with liability to pressure palsies nerve biopsies. Neurology 1997, forty nine:1635?640. seventy two. Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, Sakoda S, Yanagihara T: Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of sufferers with Charcot- Marie-Tooth condition variety 1A. Ann Neurol 1994, 35:445?fifty. 73. Snipes GJ, Suter U, Welcher AA, Shooter EM: Characterization of a novel peripheral nervous method myelin protein (PMP-22/SR13). J Mobile Biol 1992, 117:225?38. 74. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME: Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disorder sort 1A. Mind 2000, 123:1516?527. 75. Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G: Demyelinating and axonal capabilities of Charcot-Marie-Tooth ailment with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological analyze of PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/3021955 205 Japanese people. Mind 2003, 126:134?51. seventy six. Robaglia-Schlupp A, Pizant J, Norreel JC, Passage E, Saberan-Djoneidi D, Ansaldi JL, Vinay L, Figarella-Branger D, Levy N, Clarac F, Cau P, Pellissier JF, Font M: PMP22 overexpression results in dysmyelination in mice. Mind 2002, a hundred twenty five:2213?221. seventy seven. Yiu EM, Burns J, Ryan MM, Ouvrier RA: Neurophysiologic abnormalities in small children with Charcot-Marie-Tooth illness form 1A. J Peripher Nerv Syst 2008, thirteen:236?forty one. seventy eight. Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, Li J: Shortened internodal Vitamin D2 size of dermal myelinated nerve fibres in Charcot-Marie-Tooth sickness variety 1A. Mind 2009, 132:3263?273. seventy nine. Verhamme C, King RH, Ten Asbroek AL, Muddle JR, Nourallah M, Wolterman R, Baas F, Van Schaik IN: Myelin and axon pathology inside a long-term review of PMP22-overexpressing mice. J Neuropathol Exp Neurol 2011, 70:386?ninety eight. 80. Hoogendijk JE, Hensels GW, Gabreels-Festen AA, Gabreels FJ, Janssen EA, De Jonghe P, Martin JJ, Van Broeckhoven C, Valentijn LJ, Baas F, De Visser M, Bolhuis PA: De-novo mutation in hereditary motor and sensory neuropathy kind I. Lancet 1992, 339:1081?082. eighty one. Blair IP, Nash J, Gordon MJ, Nicholson GA: Prevalence and origin of de novo duplications in Charcot-Marie-Tooth ailment variety.