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Journal Abstract Search

322 related items for PubMed ID: 31471117

  • 1. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
    Caria F, Cescon M, Gualandi F, Pichiecchio A, Rossi R, Rimessi P, Cotti Piccinelli S, Gallo Cassarino S, Gregorio I, Galvagni A, Ferlini A, Padovani A, Bonaldo P, Filosto M.
    Neuromuscul Disord; 2019 Sep; 29(9):657-663. PubMed ID: 31471117
    [Abstract] [Full Text] [Related]

  • 2. Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
    Zamurs LK, Idoate MA, Hanssen E, Gomez-Ibañez A, Pastor P, Lamandé SR.
    J Biol Chem; 2015 Feb 13; 290(7):4272-81. PubMed ID: 25533456
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993 Feb 13. PubMed ID: 20301676
    [Abstract] [Full Text] [Related]

  • 4. [Collagen VI-related muscle disorders].
    Higuchi I.
    Brain Nerve; 2011 Nov 13; 63(11):1169-78. PubMed ID: 22068469
    [Abstract] [Full Text] [Related]

  • 5. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
    Zanoteli E, Soares PS, Silva AMSD, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Lopes Abath Neto O, Novo Filho GM, Kulikowski LD, Reed UC.
    Clin Neurol Neurosurg; 2020 May 13; 192():105734. PubMed ID: 32065942
    [Abstract] [Full Text] [Related]

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  • 8. Autosomal recessive Bethlem myopathy.
    Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L.
    Neurology; 2009 Dec 01; 73(22):1883-91. PubMed ID: 19949035
    [Abstract] [Full Text] [Related]

  • 9. Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family.
    Mihaylova V, Chablais F, Bremer J, Guggenberger R, Rushing EJ, Bethge T, Spiegel R, Jung HH.
    J Clin Neuromuscul Dis; 2021 Mar 01; 22(3):173-179. PubMed ID: 33596003
    [Abstract] [Full Text] [Related]

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  • 11. Collagen type VI myopathies.
    Bushby KM, Collins J, Hicks D.
    Adv Exp Med Biol; 2014 Mar 01; 802():185-99. PubMed ID: 24443028
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  • 14. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
    Higuchi I.
    Rinsho Shinkeigaku; 2005 Nov 01; 45(11):935-7. PubMed ID: 16447767
    [Abstract] [Full Text] [Related]

  • 15. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
    Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.
    Hum Mutat; 2015 Jan 01; 36(1):48-56. PubMed ID: 25204870
    [Abstract] [Full Text] [Related]

  • 16. Bethlem myopathy in a Portuguese patient - case report.
    Martins AI, Maarque C, Pinto-Basto J, Negrão L.
    Acta Myol; 2017 Sep 01; 36(3):178-181. PubMed ID: 29774307
    [Abstract] [Full Text] [Related]

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  • 18. Autosomal recessive inheritance of classic Bethlem myopathy.
    Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG.
    Neuromuscul Disord; 2009 Dec 01; 19(12):813-7. PubMed ID: 19884007
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  • 20. COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
    Bao M, Mao F, Zhao Z, Ma G, Xu G, Xu W, Chen H, Zhu M.
    BMC Neurol; 2019 Feb 26; 19(1):32. PubMed ID: 30808312
    [Abstract] [Full Text] [Related]

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