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PUBMED FOR HANDHELDS

Journal Abstract Search

498 related items for PubMed ID: 15689448

  • 1.
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  • 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 muscle disorders.
    Lampe AK, Bushby KM.
    J Med Genet; 2005 Sep; 42(9):673-85. PubMed ID: 16141002
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
    Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG.
    Hum Mutat; 2008 Jun 15; 29(6):809-22. PubMed ID: 18366090
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  • 8. 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 15; 41(2):95-98. PubMed ID: 35832501
    [Abstract] [Full Text] [Related]

  • 9. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
    D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E.
    Eur J Paediatr Neurol; 2017 Nov 15; 21(6):873-883. PubMed ID: 28760337
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  • 11. 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 15; 192():105734. PubMed ID: 32065942
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  • 12. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
    Higuchi I.
    Rinsho Shinkeigaku; 2005 Nov 15; 45(11):935-7. PubMed ID: 16447767
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  • 15. 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 Nov 15; 8(4):633-645. PubMed ID: 33749658
    [Abstract] [Full Text] [Related]

  • 16. Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
    Reed UC, Ferreira LG, Liu EC, Resende MB, Carvalho MS, Marie SK, Scaff M.
    Arq Neuropsiquiatr; 2005 Sep 15; 63(3B):785-90. PubMed ID: 16258657
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  • 18. Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report.
    Li J, Lin S, Wu Q, Feng J, Chen Q, Jiang K.
    Medicine (Baltimore); 2023 Dec 08; 102(49):e36398. PubMed ID: 38065855
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