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Journal Abstract Search

135 related items for PubMed ID: 24636144

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  • 4. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
    Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A.
    J Neurol Neurosurg Psychiatry; 2014 Mar; 85(3):331-8. PubMed ID: 23486992
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  • 5. Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
    Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I.
    J Neurol Neurosurg Psychiatry; 2015 May; 86(5):483-9. PubMed ID: 25253871
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  • 6. 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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  • 7. Hereditary myopathy with early respiratory failure: occurrence in various populations.
    Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B.
    J Neurol Neurosurg Psychiatry; 2014 Mar 20; 85(3):345-53. PubMed ID: 23606733
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  • 9. A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.
    Sano Y, Ota S, Oishi M, Honda M, Omoto M, Kawai M, Okubo M, Nishino I, Kanda T.
    Intern Med; 2022 May 15; 61(10):1587-1592. PubMed ID: 34670883
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  • 10. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
    Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A.
    Brain; 2012 Jun 15; 135(Pt 6):1682-94. PubMed ID: 22577218
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  • 11. [Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure].
    Aoki R, Kokubun N, Komagamine T, Ishii Y, Nishino I, Hirata K.
    Rinsho Shinkeigaku; 2020 May 26; 60(5):334-339. PubMed ID: 32307395
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  • 12. Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
    Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B.
    J Neurol; 2019 Mar 26; 266(3):680-690. PubMed ID: 30666435
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  • 15. An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.
    Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione GL, Piluso G, Gualandi F, Tonali PA, Udd B, Ricci E.
    Neuromuscul Disord; 2010 Nov 26; 20(11):730-4. PubMed ID: 20708934
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  • 16. Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.
    Uruha A, Nishino I.
    J Neurol Neurosurg Psychiatry; 2014 Mar 26; 85(3):248. PubMed ID: 23695499
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  • 17. Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.
    Lv X, Zhao B, Xu L, Jiang W, Dai T, Zhao D, Lin P, Yan C.
    Neurol Sci; 2022 May 26; 43(5):3371-3380. PubMed ID: 34839411
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  • 18. Necklace body myopathy: A rare entity.
    Choudhary A, Bansal S, Balan LG, Goyal M, Modi M.
    Neurol India; 2018 May 26; 66(3):841-842. PubMed ID: 29766954
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