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| Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S. Ann Neurol. 2012 Jan;71(1):84-92. doi: 10.1002/ana.22658. | | Therapeutic strategies for Charcot-Marie-Tooth disease. Nakagawa M. Rinsho Shinkeigaku. 2011 Nov;51(11):1015-8. | | Vincristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation. Nakamura T, Hashiguchi A, Suzuki S, Uozumi K, Tokunaga S, Takashima H. Neurogenetics. 2012 Jan 25. [Epub ahead of print] | | Genetics of neuropathies. Siskind CE, Shy ME. Semin Neurol. 2011 Nov;31(5):494-505. Epub 2012 Jan 21. | | Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients. Karadima G, Floroskufi P, Koutsis G, Vassilopoulos D, Panas M. Clin Genet. 2011 Nov;80(5):497-9. doi: 10.1111/j.1399-0004.2011.01657.x. No abstract available. | | The role of mitochondrial dynamics in neurodegeneration. Li WW, Zhu M, Lv CZ. Sheng Li Ke Xue Jin Zhan. 2011 Oct;42(5):347-52. Chinese. | | Molecular pathogenesis of hereditary motor and sensory neuropathy. Kotruchow K, Kabzińska D, Karpińska K, Kochański A. Postepy Biochem. 2011;57(3):283-93. Polish. | | Comparing Gait Performance of People with Charcot-Marie-Tooth Disease Who Do and Do Not Wear Ankle Foot Orthoses. Ramdharry GM, Pollard AJ, Marsden JF, Reilly MM. Physiother Res Int. 2012 Jan 9. doi: 10.1002/pri.531. [Epub ahead of print] | | A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease. Marttila M, Rautenstrauss B, Huehne K, Laitinen V, Majamaa K, Kärppä M. J Neurol. 2012 Jan 6. [Epub ahead of print] | | The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan. Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC. PLoS One. 2011;6(12):e29393. Epub 2011 Dec 19. | | A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, Meyer Zu Hörste G, Klink A, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Rossner MJ, Sereda MW. | | The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N, Fragaki K, Cano A, Pouget J, Pellissier JF, Procaccio V, Chabrol B, Paquis-Flucklinger V. | | Pediatric orthopedic conditions in Charcot-Marie-Tooth disease: a literature review. Yagerman SE, Cross MB, Green DW, Scher DM. Curr Opin Pediatr. 2012 Feb;24(1):50-6. | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | Home | Cos'è una neuropatia | Genetica della CMT | Farmaci da usare con cautela |
Home | Cos'è una neuropatia | Genetica della CMT | Farmaci da usare con cautela
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