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8. Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. Ando M; Hashiguchi A; Okamoto Y; Yoshimura A; Hiramatsu Y; Yuan J; Higuchi Y; Mitsui J; Ishiura H; Umemura A; Maruyama K; Matsushige T; Morishita S; Nakagawa M; Tsuji S; Takashima H J Peripher Nerv Syst; 2017 Sep; 22(3):191-199. PubMed ID: 28660751 [TBL] [Abstract][Full Text] [Related]
9. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Chung KW; Kim SB; Park KD; Choi KG; Lee JH; Eun HW; Suh JS; Hwang JH; Kim WK; Seo BC; Kim SH; Son IH; Kim SM; Sunwoo IN; Choi BO Brain; 2006 Aug; 129(Pt 8):2103-18. PubMed ID: 16835246 [TBL] [Abstract][Full Text] [Related]
10. Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation. Di Meglio C; Bonello-Palot N; Boulay C; Milh M; Ovaert C; Levy N; Chabrol B Brain Dev; 2016 May; 38(5):498-506. PubMed ID: 26686600 [TBL] [Abstract][Full Text] [Related]
11. Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations. Piscosquito G; Saveri P; Magri S; Ciano C; Di Bella D; Milani M; Taroni F; Pareyson D J Peripher Nerv Syst; 2015 Dec; 20(4):380-6. PubMed ID: 26306937 [TBL] [Abstract][Full Text] [Related]
15. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. Bombelli F; Stojkovic T; Dubourg O; Echaniz-Laguna A; Tardieu S; Larcher K; Amati-Bonneau P; Latour P; Vignal O; Cazeneuve C; Brice A; Leguern E JAMA Neurol; 2014 Aug; 71(8):1036-42. PubMed ID: 24957169 [TBL] [Abstract][Full Text] [Related]
16. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Montecchiani C; Pedace L; Lo Giudice T; Casella A; Mearini M; Gaudiello F; Pedroso JL; Terracciano C; Caltagirone C; Massa R; St George-Hyslop PH; Barsottini OG; Kawarai T; Orlacchio A Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829 [TBL] [Abstract][Full Text] [Related]
17. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294 [TBL] [Abstract][Full Text] [Related]
18. [Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease]. Sołtysińska E; Kabzińska D; Kochański A Neurol Neurochir Pol; 2007; 41(4):350-4. PubMed ID: 17874344 [TBL] [Abstract][Full Text] [Related]
19. Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy. Cohen L; Tzur S; Goldenberg-Cohen N; Bormans C; Behar DM; Reinstein E Genet Res (Camb); 2016 Jun; 98():e10. PubMed ID: 27265430 [TBL] [Abstract][Full Text] [Related]
20. [Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital]. Fernández-Ramos JA; López-Laso E; Camino-León R; Gascón-Jiménez FJ; Jiménez-González MD Rev Neurol; 2015 Dec; 61(11):490-8. PubMed ID: 26602803 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]