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415 related items for PubMed ID: 33749658

  • 1. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
    Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T.
    J Neuromuscul Dis; 2021; 8(4):633-645. PubMed ID: 33749658
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993. PubMed ID: 20301676
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
    Panadés-de Oliveira L, Rodríguez-López C, Cantero Montenegro D, Marcos Toledano MDM, Fernández-Marmiesse A, Esteban Pérez J, Hernández Lain A, Domínguez-González C.
    J Neurol; 2019 Apr 01; 266(4):934-941. PubMed ID: 30706156
    [Abstract] [Full Text] [Related]

  • 5. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.
    Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panadés-de Oliveira L, Domínguez-González C, Inashkina I, Kidere D, Chrestian N, Lace B.
    Neuromuscul Disord; 2020 Jun 01; 30(6):483-491. PubMed ID: 32448721
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 192():105734. PubMed ID: 32065942
    [Abstract] [Full Text] [Related]

  • 7. Collagen type VI myopathies.
    Bushby KM, Collins J, Hicks D.
    Adv Exp Med Biol; 2014 May 01; 802():185-99. PubMed ID: 24443028
    [Abstract] [Full Text] [Related]

  • 8. [Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene].
    Peng XY, Qu YJ, Song F, Sun XF, Ge XS, Jiao H.
    Zhonghua Er Ke Za Zhi; 2019 Feb 02; 57(2):136-141. PubMed ID: 30695889
    [Abstract] [Full Text] [Related]

  • 9. A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.
    Pan TC, Zhang RZ, Arita M, Bogdanovich S, Adams SM, Gara SK, Wagener R, Khurana TS, Birk DE, Chu ML.
    J Biol Chem; 2014 Apr 11; 289(15):10293-10307. PubMed ID: 24563484
    [Abstract] [Full Text] [Related]

  • 10. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
    Koppolu AA, Madej-Pilarczyk A, Rydzanicz M, Kosińska J, Gasperowicz P, Dorszewska J, Kozubski W, Steinborn B, Kochański AM, Płoski R.
    Folia Neuropathol; 2017 Apr 11; 55(3):214-220. PubMed ID: 28984114
    [Abstract] [Full Text] [Related]

  • 11. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
    Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.
    Hum Mol Genet; 2005 Jan 15; 14(2):279-93. PubMed ID: 15563506
    [Abstract] [Full Text] [Related]

  • 12. Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
    Barington M, Dunø M, Birkedal U, Vissing J, Born AP, Krag T, Hansen TVO, Østergaard E.
    Neuromuscul Disord; 2023 Jul 15; 33(7):539-545. PubMed ID: 37315421
    [Abstract] [Full Text] [Related]

  • 13. Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
    Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, Gualandi F, Nigro V, Sciacco M, Corti S, Comi GP, Piga D.
    Int J Mol Sci; 2023 Mar 14; 24(6):. PubMed ID: 36982625
    [Abstract] [Full Text] [Related]

  • 14. 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 14; 29(9):657-663. PubMed ID: 31471117
    [Abstract] [Full Text] [Related]

  • 15. Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
    Picillo E, Torella A, Passamano L, Nigro V, Politano L.
    Acta Myol; 2022 Jun 14; 41(2):95-98. PubMed ID: 35832501
    [Abstract] [Full Text] [Related]

  • 16. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
    Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.
    BMC Med Genet; 2010 Mar 19; 11():44. PubMed ID: 20302629
    [Abstract] [Full Text] [Related]

  • 17. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB.
    J Med Genet; 2005 Feb 19; 42(2):108-20. PubMed ID: 15689448
    [Abstract] [Full Text] [Related]

  • 18. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
    Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP.
    Neurology; 2002 Feb 26; 58(4):593-602. PubMed ID: 11865138
    [Abstract] [Full Text] [Related]

  • 19. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
    Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.
    Am J Hum Genet; 2002 Jun 26; 70(6):1446-58. PubMed ID: 11992252
    [Abstract] [Full Text] [Related]

  • 20. [Collagen VI-related muscle disorders].
    Higuchi I.
    Brain Nerve; 2011 Nov 26; 63(11):1169-78. PubMed ID: 22068469
    [Abstract] [Full Text] [Related]

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