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Journal Abstract Search


139 related items for PubMed ID: 29766954

  • 1. Necklace body myopathy: A rare entity.
    Choudhary A, Bansal S, Balan LG, Goyal M, Modi M.
    Neurol India; 2018; 66(3):841-842. PubMed ID: 29766954
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  • 8. Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.
    Uruha A, Nishino I.
    J Neurol Neurosurg Psychiatry; 2014 Mar; 85(3):248. PubMed ID: 23695499
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  • 9. Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.
    Hedberg C, Toledo AG, Gustafsson CM, Larson G, Oldfors A, Macao B.
    Neuromuscul Disord; 2014 May; 24(5):373-9. PubMed ID: 24636144
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  • 10. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
    Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y.
    J Hum Genet; 2013 May; 58(5):259-66. PubMed ID: 23446887
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  • 12. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
    Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG.
    BMC Neurol; 2013 Mar 20; 13():29. PubMed ID: 23514108
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  • 16. Titinopathy, an atypical respiratory failure.
    Morais J, Oliveira AA, Pires O, Burmester I, Regadas MJ, Gouveia P.
    BMJ Case Rep; 2020 Sep 09; 13(9):. PubMed ID: 32912888
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