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Journal Abstract Search


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
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  • 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
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  • 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
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  • 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
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  • 29. Charcot-Marie-Tooth disease with diaphragmatic weakness.
    Osanai S, Akiba Y, Nakano H, Matsumoto H, Yahara O, Onodera S.
    Intern Med; 1992 Nov; 31(11):1267-70. PubMed ID: 1295621
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  • 30. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Nov; (193):iv-22. PubMed ID: 23106488
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  • 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
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  • 35. Phrenic nerve involvement in Charcot-Marie-Tooth disease.
    Abboud L, El SF, Takubo T, Byrd RP, Roy TM.
    Tenn Med; 2005 Oct 30; 98(10):495-7. PubMed ID: 16294569
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  • 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
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  • 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
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