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Journal Abstract Search

224 related items for PubMed ID: 31987637

  • 1. Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.
    Yang Q, Xiao X, Yuan Z, Jiao B, Liao X, Du J.
    J Clin Neurosci; 2020 Mar; 73():311-313. PubMed ID: 31987637
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  • 2. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Mar; (193):iv-22. PubMed ID: 23106488
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  • 3. 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; 8(4):e1141. PubMed ID: 32022442
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  • 4. Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
    Yuan JH, Sakiyama Y, Hashiguchi A, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Takashima H.
    Eur J Neurol; 2018 Dec; 25(12):1454-1461. PubMed ID: 29998508
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  • 5. Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.
    Nozaki I, Hashiguchi A, Takashima H, Yamashita Y, Higashide T, Iwasa K, Ono K.
    Intern Med; 2023 Oct 15; 62(20):3033-3036. PubMed ID: 36792185
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  • 6. Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.
    Martikainen MH, Majamaa K.
    Neuromuscul Disord; 2013 Nov 15; 23(11):899-901. PubMed ID: 23838279
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  • 7. Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
    Chen B, Niu S, Wang X, Yu X, Tang H, Pan H, Zhang Z.
    Clin Neurol Neurosurg; 2019 Sep 15; 184():105430. PubMed ID: 31323543
    [Abstract] [Full Text] [Related]

  • 8. Novel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report.
    Patra P.
    Neurol India; 2024 Sep 01; 72(5):1081-1083. PubMed ID: 39428786
    [Abstract] [Full Text] [Related]

  • 9. Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
    Milley GM, Varga ET, Grosz Z, Bereznai B, Aranyi Z, Boczan J, Dioszeghy P, Kálmán B, Gal A, Molnar MJ.
    Neuromuscul Disord; 2016 Oct 01; 26(10):706-711. PubMed ID: 27544631
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  • 14. Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
    Borgulová I, Mazanec R, Sakmaryová I, Havlová M, Safka Brožková D, Seeman P.
    Neurogenetics; 2013 Nov 01; 14(3-4):189-95. PubMed ID: 23912496
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  • 19. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
    Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM, Inherited Neuropathies Consortium—Rare Disease Clinical Research Network.
    Brain; 2023 Oct 03; 146(10):4336-4349. PubMed ID: 37284795
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  • 20. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
    Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA.
    Neurology; 2006 Dec 12; 67(11):2016-21. PubMed ID: 17159110
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