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154 related items for PubMed ID: 30409445
21. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Chan CK, Mohsenin V, Loke J, Virgulto J, Sipski ML, Ferranti R. Chest; 1987 Apr; 91(4):567-70. PubMed ID: 3829750 [Abstract] [Full Text] [Related]
22. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M. Hum Mutat; 2007 Aug; 28(8):808-15. PubMed ID: 17431882 [Abstract] [Full Text] [Related]
23. Growing up with spinal muscular atrophy with respiratory distress (SMARD1). Hamilton MJ, Longman C, O'Hara A, Kirkpatrick M, McWilliam R. Neuromuscul Disord; 2015 Feb; 25(2):169-71. PubMed ID: 25454169 [Abstract] [Full Text] [Related]
24. An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1). Wu S, Chen T, Li Y, Chen L, Xu Q, Xiao F, Bai Z. Eur J Med Genet; 2018 Oct; 61(10):602-606. PubMed ID: 29653221 [Abstract] [Full Text] [Related]
31. The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins. Leśniak A, Glińska M, Patalan M, Ostrowska I, Świrska-Sobolewska M, Giżewska-Kacprzak K, Kotkowiak A, Leśniak A, Walczak M, Śmigiel R, Giżewska M. Genes (Basel); 2024 Jul 30; 15(8):. PubMed ID: 39202358 [Abstract] [Full Text] [Related]
39. Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. Tufano M, Cappuccio G, Terrone G, Manganelli F, Pisciotta C, Geroldi A, Capponi S, Del Giudice E. J Peripher Nerv Syst; 2015 Dec 30; 20(4):415-8. PubMed ID: 26307494 [Abstract] [Full Text] [Related]
40. Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F. Chen YH, Zhang H, Meng LB, Tang XY, Gong T, Yin J. J Int Med Res; 2020 Feb 30; 48(2):300060519862064. PubMed ID: 31426691 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]