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Journal Abstract Search

177 related items for PubMed ID: 22157136

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  • 23. 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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  • 26. The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
    Smith CE, Lorson MA, Ricardez Hernandez SM, Al Rawi Z, Mao J, Marquez J, Villalón E, Keilholz AN, Smith CL, Garro-Kacher MO, Morcos T, Davis DJ, Bryda EC, Nichols NL, Lorson CL.
    Hum Mol Genet; 2022 Apr 22; 31(8):1293-1307. PubMed ID: 34726235
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  • 28. [Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1].
    Zhang B, Guo D, Zheng J, Lu X, Zhang X, Wu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr 10; 34(2):213-215. PubMed ID: 28397221
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  • 29. 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 10; 62(6):599-604. PubMed ID: 28202949
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  • 36. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.
    Basel-Vanagaite L, Taub E, Drasinover V, Magal N, Brudner A, Zlotogora J, Shohat M.
    Genet Test; 2008 Mar 10; 12(1):53-6. PubMed ID: 18298318
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  • 38. Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.
    Gitiaux C, Bergounioux J, Magen M, Quijano-Roy S, Blanc T, Bonnefont JP, Desguerre I.
    J Child Neurol; 2013 Jun 10; 28(6):787-90. PubMed ID: 22791546
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  • 39. Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.
    Vanoli F, Rinchetti P, Porro F, Parente V, Corti S.
    J Cell Mol Med; 2015 Sep 10; 19(9):2058-66. PubMed ID: 26095024
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  • 40. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
    Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.
    Neuromuscul Disord; 2011 May 10; 21(5):353-5. PubMed ID: 21353777
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