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Journal Abstract Search

166 related items for PubMed ID: 38403020

  • 1. 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; 1870(4):167091. PubMed ID: 38403020
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  • 7. 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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  • 8. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review.
    Tian Y, Xing J, Shi Y, Yuan E.
    Front Neurosci; 2023 Feb; 17():1252075. PubMed ID: 38046662
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  • 12. Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1).
    Surrey V, Zöller C, Lork AA, Moradi M, Balk S, Dombert B, Saal-Bauernschubert L, Briese M, Appenzeller S, Fischer U, Jablonka S.
    Neuroscience; 2018 Aug 21; 386():24-40. PubMed ID: 29928949
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  • 14. 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 21; 32(7):564-571. PubMed ID: 35660062
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  • 18. 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 21; 25(10):794-9. PubMed ID: 26298607
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  • 20. Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
    Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P.
    Neuromuscul Disord; 2016 Sep 21; 26(9):570-5. PubMed ID: 27450922
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