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Journal Abstract Search

266 related items for PubMed ID: 26922252

  • 41. [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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  • 42. Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1.
    Kim YA, Jin HY, Kim YM.
    J Korean Med Sci; 2019 Mar 11; 34(9):e54. PubMed ID: 30863264
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  • 43. Interfamilial phenotypic heterogeneity in SMARD1.
    Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige E.
    Neuromuscul Disord; 2009 Mar 11; 19(3):193-5. PubMed ID: 19157874
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  • 44. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
    Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH.
    Neuromuscul Disord; 2013 Jun 11; 23(6):461-8. PubMed ID: 23566544
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  • 45. 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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  • 46. Early infantile sensory-motor neuropathy with late onset respiratory distress.
    Blaschek A, Gläser D, Kuhn M, Schroeder AS, Wimmer C, Heimkes B, Schön C, Müller-Felber W.
    Neuromuscul Disord; 2014 Mar 22; 24(3):269-71. PubMed ID: 24342282
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  • 47. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future.
    Rzepnikowska W, Kochański A.
    Neuromuscul Disord; 2021 Dec 22; 31(12):1266-1278. PubMed ID: 34785121
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  • 48. 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 22; 26(9):570-5. PubMed ID: 27450922
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  • 55. Catastrophic autonomic crisis with cardiovascular collapse in spinal muscular atrophy with respiratory distress type 1.
    Nomura T, Takenouchi T, Fukushima H, Shimozato S, Kosaki K, Takahashi T.
    J Child Neurol; 2013 Jul 22; 28(7):949-51. PubMed ID: 22899794
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  • 58. 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 22; 27(2):193-199. PubMed ID: 28065684
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  • 59. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
    Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R.
    Hum Genet; 2004 Sep 22; 115(4):319-26. PubMed ID: 15290238
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  • 60. Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report.
    Zhu J, Ma M, Chen X, Xiong C, Ju Y, Chunhui T.
    Heliyon; 2024 Aug 15; 10(15):e35415. PubMed ID: 39170411
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