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Journal Abstract Search

162 related items for PubMed ID: 28065684

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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. 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
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  • 13. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future.
    Rzepnikowska W, Kochański A.
    Neuromuscul Disord; 2021 Dec; 31(12):1266-1278. PubMed ID: 34785121
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  • 14. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Dec; (193):iv-22. PubMed ID: 23106488
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  • 18. The molecular mechanisms that underlie IGHMBP2-related diseases.
    Rzepnikowska W, Kaminska J, Kochański A.
    Neuropathol Appl Neurobiol; 2024 Aug; 50(4):e13005. PubMed ID: 39119929
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  • 19. Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.
    Holbrook SE, Hicks AN, Martin PB, Hines TJ, Castro HP, Cox GA.
    Hum Mol Genet; 2024 Oct 07; 33(20):1800-1814. PubMed ID: 39128026
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  • 20. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
    Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I.
    Eur J Paediatr Neurol; 2014 Mar 07; 18(2):183-92. PubMed ID: 24388491
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