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Journal Abstract Search

137 related items for PubMed ID: 8795848

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  • 2. Congenital myopathies.
    Bruno C, Minetti C.
    Curr Neurol Neurosci Rep; 2004 Jan; 4(1):68-73. PubMed ID: 14683632
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  • 7. A brief history of the congenital myopathies - the myopathological perspective.
    Goebel HH, Stenzel W.
    Neuromuscul Disord; 2023 Dec; 33(12):990-995. PubMed ID: 37980206
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  • 11. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
    Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.
    Neuromuscul Disord; 2011 Aug; 21(8):556-62. PubMed ID: 21724397
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  • 12. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
    Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H.
    J Neurol; 2016 Mar; 263(3):517-23. PubMed ID: 26754003
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  • 13. Congenital myopathies.
    D'Amico A, Bertini E.
    Curr Neurol Neurosci Rep; 2008 Jan; 8(1):73-9. PubMed ID: 18367042
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  • 14. Gene-related protein surplus myopathies.
    Goebel HH, Warlo I.
    Mol Genet Metab; 2000 Jan; 71(1-2):267-75. PubMed ID: 11001821
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  • 17. Dietary L-tyrosine supplementation in nemaline myopathy.
    Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN.
    J Child Neurol; 2008 Jun; 23(6):609-13. PubMed ID: 18079309
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  • 18. Congenital myopathies.
    Bornemann A, Goebel HH.
    Brain Pathol; 2001 Apr; 11(2):206-17. PubMed ID: 11303796
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  • 19. Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
    Buxmann H, Schlösser R, Schlote W, Sewell A, Nowak KJ, Laing NG, Loewenich V.
    Neuropediatrics; 2001 Oct; 32(5):267-70. PubMed ID: 11748499
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  • 20. Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods.
    Schröder R, Reimann J, Salmikangas P, Clemen CS, Hayashi YK, Nonaka I, Arahata K, Carpén O.
    Neuromuscul Disord; 2003 Aug; 13(6):451-5. PubMed ID: 12899871
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