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Journal Abstract Search

155 related items for PubMed ID: 31020813

  • 1.
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  • 2. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
    Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE, Care4Rare Canada Consortium, Dyment DA, McMillan HJ.
    Neuromuscul Disord; 2015 Oct; 25(10):794-9. PubMed ID: 26298607
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  • 4. 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
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  • 5. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
    Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T.
    Neurogenetics; 2018 May; 19(2):67-76. PubMed ID: 29396836
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  • 6. Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations.
    Lei L, Zhiqiang L, Xiaobo L, Zhengmao H, Shunxiang H, Huadong Z, Beisha T, Ruxu Z.
    Neuromuscul Disord; 2022 Jul; 32(7):564-571. PubMed ID: 35660062
    [Abstract] [Full Text] [Related]

  • 7. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
    Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H.
    Am J Hum Genet; 2014 Nov 06; 95(5):590-601. PubMed ID: 25439726
    [Abstract] [Full Text] [Related]

  • 8. 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 06; 139(Pt 1):62-72. PubMed ID: 26497905
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  • 9. A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
    Grosz BR, Parmar JM, Ellis M, Bryen S, Simons C, Reis ALM, Stevanovski I, Deveson IW, Nicholson G, Laing N, Wallis M, Ravenscroft G, Kumar KR, Vucic S, Kennerson ML.
    J Peripher Nerv Syst; 2024 Jun 06; 29(2):262-274. PubMed ID: 38860315
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  • 11. Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
    Liu L, Zeng S, Li X, Xie Y, Xu K, Yang H, Huang S, Zhao H, Zhang R.
    J Peripher Nerv Syst; 2024 Jun 06; 29(2):243-251. PubMed ID: 38772550
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  • 12.
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  • 13. 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 06; 139(Pt 1):73-85. PubMed ID: 26556829
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  • 15. Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
    Michaelidou K, Tsiverdis I, Erimaki S, Papadimitriou D, Amoiridis G, Papadimitriou A, Mitsias P, Zaganas I.
    Mol Genet Genomic Med; 2020 Apr 06; 8(4):e1141. PubMed ID: 32022442
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  • 16. Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.
    Kulshrestha R, Forrester N, Antoniadi T, Willis T, Sethuraman SK, Samuels M.
    Neuromuscul Disord; 2018 Dec 06; 28(12):1016-1021. PubMed ID: 30409445
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  • 19. Clinical diversity caused by novel IGHMBP2 variants.
    Yuan JH, Hashiguchi A, Yoshimura A, Yaguchi H, Tsuzaki K, Ikeda A, Wada-Isoe K, Ando M, Nakamura T, Higuchi Y, Hiramatsu Y, Okamoto Y, Takashima H.
    J Hum Genet; 2017 Jun 06; 62(6):599-604. PubMed ID: 28202949
    [Abstract] [Full Text] [Related]

  • 20. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
    Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot N.
    J Hum Genet; 2020 Mar 06; 65(3):313-323. PubMed ID: 31852984
    [Abstract] [Full Text] [Related]

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