These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. Screening for Zhao X; Jiang MM; Yan YZ; Liu L; Xie YZ; Li XB; Hu ZM; Zi XH; Xia K; Tang BS; Zhang RX Chin Med J (Engl); 2018 Jan; 131(2):151-155. PubMed ID: 29336362 [TBL] [Abstract][Full Text] [Related]
9. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112 [TBL] [Abstract][Full Text] [Related]
10. Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants. Uusitalo M; Klenow MB; Laulumaa S; Blakeley MP; Simonsen AC; Ruskamo S; Kursula P FEBS J; 2021 Dec; 288(23):6716-6735. PubMed ID: 34138518 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. Street VA; Meekins G; Lipe HP; Seltzer WK; Carter GT; Kraft GH; Bird TD Neuromuscul Disord; 2002 Oct; 12(7-8):643-50. PubMed ID: 12207932 [TBL] [Abstract][Full Text] [Related]
13. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan. Ando M; Okamoto Y; Yoshimura A; Yuan JH; Hiramatsu Y; Higuchi Y; Hashiguchi A; Mitsui J; Ishiura H; Fukumura S; Matsushima M; Ochi N; Tsugawa J; Morishita S; Tsuji S; Takashima H Eur J Neurol; 2017 Oct; 24(10):1274-1282. PubMed ID: 28771897 [TBL] [Abstract][Full Text] [Related]
14. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905 [TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Sanmaneechai O; Feely S; Scherer SS; Herrmann DN; Burns J; Muntoni F; Li J; Siskind CE; Day JW; Laura M; Sumner CJ; Lloyd TE; Ramchandren S; Shy RR; Grider T; Bacon C; Finkel RS; Yum SW; Moroni I; Piscosquito G; Pareyson D; Reilly MM; Shy ME; Brain; 2015 Nov; 138(Pt 11):3180-92. PubMed ID: 26310628 [TBL] [Abstract][Full Text] [Related]
16. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Claeys KG; Züchner S; Kennerson M; Berciano J; Garcia A; Verhoeven K; Storey E; Merory JR; Bienfait HM; Lammens M; Nelis E; Baets J; De Vriendt E; Berneman ZN; De Veuster I; Vance JM; Nicholson G; Timmerman V; De Jonghe P Brain; 2009 Jul; 132(Pt 7):1741-52. PubMed ID: 19502294 [TBL] [Abstract][Full Text] [Related]
17. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. Aharoni S; Barwick KE; Straussberg R; Harlalka GV; Nevo Y; Chioza BA; McEntagart MM; Mimouni-Bloch A; Weedon M; Crosby AH BMC Med Genet; 2016 Nov; 17(1):82. PubMed ID: 27852232 [TBL] [Abstract][Full Text] [Related]
18. Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation. Khani M; Taheri H; Shamshiri H; Houlden H; Efthymiou S; Alavi A; Nafissi S; Elahi E Am J Med Genet A; 2019 Aug; 179(8):1507-1515. PubMed ID: 31111683 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. Choi BO; Nakhro K; Park HJ; Hyun YS; Lee JH; Kanwal S; Jung SC; Chung KW Clin Genet; 2015 Jun; 87(6):594-8. PubMed ID: 24863639 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]