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154 related items for PubMed ID: 30409445

  • 1. 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; 28(12):1016-1021. PubMed ID: 30409445
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  • 2. 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; 29(2):243-251. PubMed ID: 38772550
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  • 3. IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
    Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R.
    Neuromuscul Disord; 2017 Feb; 27(2):193-199. PubMed ID: 28065684
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  • 4. Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
    Martin PB, Holbrook SE, Hicks AN, Hines TJ, Bogdanik LP, Burgess RW, Cox GA.
    Hum Mol Genet; 2023 Apr 06; 32(8):1276-1288. PubMed ID: 36413117
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  • 10. 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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  • 11. 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 06; 32(7):564-571. PubMed ID: 35660062
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  • 14. The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.
    Vadla GP, Singh K, Lorson CL, Lorson MA.
    Biochim Biophys Acta Mol Basis Dis; 2024 Apr 06; 1870(4):167091. PubMed ID: 38403020
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  • 15. Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
    Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J, Undiagnosed Diseases Network.
    Mol Genet Genomic Med; 2019 Jun 06; 7(6):e00676. PubMed ID: 31020813
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  • 16. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
    Tan CA, Rabideau M, Blevins A, Westbrook MJ, Ekstein T, Nykamp K, Deucher A, Harper A, Demmer L.
    Am J Med Genet A; 2016 Jun 06; 170(6):1580-4. PubMed ID: 26955893
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  • 20. Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
    Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L.
    Brain Dev; 2016 Aug 06; 38(7):685-9. PubMed ID: 26922252
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