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PUBMED FOR HANDHELDS

Journal Abstract Search

256 related items for PubMed ID: 28760337

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    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
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  • 4. 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; 192():105734. PubMed ID: 32065942
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  • 5. Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
    Butterfield RJ, Dunn DM, Hu Y, Johnson K, Bönnemann CG, Weiss RB.
    PLoS One; 2017 May; 12(12):e0189664. PubMed ID: 29244830
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  • 6. Paternal germline mosaicism in collagen VI related myopathies.
    Armaroli A, Trabanelli C, Scotton C, Venturoli A, Selvatici R, Brisca G, Merlini L, Bruno C, Ferlini A, Gualandi F.
    Eur J Paediatr Neurol; 2015 Sep; 19(5):533-6. PubMed ID: 25978941
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  • 7. 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; 42(2):108-20. PubMed ID: 15689448
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  • 12. Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
    Sharaf-Eldin WE, Rafat K, Issa MY, Elbendary HM, Eissa NR, Hawaary B, Gaboon NEA, Maroofian R, Gleeson JG, Essawi ML, Zaki MS.
    J Mol Neurosci; 2024 Oct 05; 74(4):93. PubMed ID: 39367186
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  • 13. 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 05; 266(4):934-941. PubMed ID: 30706156
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  • 14. 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 05; 41(2):95-98. PubMed ID: 35832501
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  • 15. 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
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  • 16. 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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  • 17. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Bönnemann CG.
    Handb Clin Neurol; 2011 Jun 15; 101():81-96. PubMed ID: 21496625
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  • 18. Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study.
    Batra A, Lott DJ, Willcocks R, Forbes SC, Triplett W, Dastgir J, Yun P, Reghan Foley A, Bönnemann CG, Vandenborne K, Walter GA.
    J Neuromuscul Dis; 2020 Jun 15; 7(4):407-417. PubMed ID: 32538860
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  • 19. 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 Jun 15; 8(4):633-645. PubMed ID: 33749658
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  • 20. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
    Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T.
    J Neurol Neurosurg Psychiatry; 2015 Dec 15; 86(12):1337-46. PubMed ID: 25535305
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