Author: charlenefredericks3338

Eral Neuropathies Mutation Databases. http://www. molgen.ua.ac.be/cmtmutations/Mutations/Default.cfm. 6. Pareyson D, Scaioli V, Laura M: Clinical and electrophysiological facets of Charcot-Marie-Tooth disorder. Neuromolecular Med 2006, 8:3?two. seven. Reilly MM: Checking out the inherited neuropathies. Pract Neurol 2007, seven:ninety three?05. eight. Harding AE, Thomas PK: The medical options of hereditary motor and sensory neuropathy kinds I and II. Brain 1980, 103:259?80. 9. Nicholson G, Myers S: Intermediate forms of Charcot-Marie-Tooth neuropathy: an evaluation. Neuromolecular Med 2006, eight:123?thirty. ten. Davis CJ, Bradley WG, Madrid R: The peroneal muscular atrophy syndrome: medical, genetic, electrophysiological and nerve biopsy experiments. I. Scientific, genetic and electrophysiological findings and classification. J Genet Hum 1978, 26:311?forty nine.van Paassen et al. Orphanet Journal of Rare Conditions 2014, nine: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 ailment: research of a huge kinship with an intermediate form. J Neurol 1985, 232:91?eight. twelve. Madrid R, Bradley WG, Davis CJ: The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Component 2. Observations on pathological variations 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 disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat 1997, 10:443?52. 14. Gabreels-Festen AA, Gabreels FJ, Jennekens FG: Hereditary motor and sensory neuropathies. Current position of styles 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 17p11.2 in Charcot-Marie-Tooth neuropathy kind 1a (CMT 1a). The HMSN Collaborative Analysis Group. Neuromuscul Disord 1991, one:93?7. sixteen. 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 related with Charcot-Marie-Tooth disorder variety 1A. Cell 1991, sixty six:219?32. 17. 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 to the peripheral myelin protein PMP-22 is really a prospect for Charcot-Marie-Tooth sickness PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/8627573 PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/22316373 kind 1A. Nat Genet 1992, one:159?65. eighteen. 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 inside the Charcot-Marie-Tooth disease form 1A duplication [published erratum seems in Nat Genet 1992 Sep;2(one):84]. Nat Genet 1992, one:171?seventy five. 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 illness sort 1A. Nat Genet 1992, 1:166?70. twenty. Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Bird TD, White R, Possibility PF: Peripheral myelin protein-22 ge.