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Journal Abstract Search

267 related items for PubMed ID: 18366090

  • 21. Zebrafish models of collagen VI-related myopathies.
    Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ.
    Hum Mol Genet; 2010 Jun 15; 19(12):2433-44. PubMed ID: 20338942
    [Abstract] [Full Text] [Related]

  • 22. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
    Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F.
    Neurology; 2002 May 14; 58(9):1354-9. PubMed ID: 12011280
    [Abstract] [Full Text] [Related]

  • 23. 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 14; 19(12):813-7. PubMed ID: 19884007
    [Abstract] [Full Text] [Related]

  • 24. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
    Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM.
    Brain; 2009 Jan 14; 132(Pt 1):147-55. PubMed ID: 19015158
    [Abstract] [Full Text] [Related]

  • 25. Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.
    Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R.
    J Invest Dermatol; 2011 Jan 14; 131(1):99-107. PubMed ID: 20882040
    [Abstract] [Full Text] [Related]

  • 26. 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 14; 192():105734. PubMed ID: 32065942
    [Abstract] [Full Text] [Related]

  • 27. 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 May 14; 8(4):633-645. PubMed ID: 33749658
    [Abstract] [Full Text] [Related]

  • 28. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
    Peat RA, Baker NL, Jones KJ, North KN, Lamandé SR.
    Neuromuscul Disord; 2007 Jul 14; 17(7):547-57. PubMed ID: 17537636
    [Abstract] [Full Text] [Related]

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  • 30. 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 Jul 14; 55(3):214-220. PubMed ID: 28984114
    [Abstract] [Full Text] [Related]

  • 31. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
    Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G.
    Ann Neurol; 2005 Sep 14; 58(3):400-10. PubMed ID: 16130093
    [Abstract] [Full Text] [Related]

  • 32. A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish.
    Radev Z, Hermel JM, Elipot Y, Bretaud S, Arnould S, Duchateau P, Ruggiero F, Joly JS, Sohm F.
    PLoS One; 2015 Sep 14; 10(7):e0133986. PubMed ID: 26221953
    [Abstract] [Full Text] [Related]

  • 33. Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.
    Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA, Muntoni F.
    Neuromuscul Disord; 2012 Feb 14; 22(2):139-48. PubMed ID: 22075033
    [Abstract] [Full Text] [Related]

  • 34. 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 14; 21(6):873-883. PubMed ID: 28760337
    [Abstract] [Full Text] [Related]

  • 35. Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
    Yonekawa T, Nishino I.
    J Neurol Neurosurg Psychiatry; 2015 Mar 14; 86(3):280-7. PubMed ID: 24938411
    [Abstract] [Full Text] [Related]

  • 36. 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 14; 63(3B):785-90. PubMed ID: 16258657
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.
    Antoniel M, Traina F, Merlini L, Andrenacci D, Tigani D, Santi S, Cenni V, Sabatelli P, Faldini C, Squarzoni S.
    Cells; 2020 Feb 11; 9(2):. PubMed ID: 32053901
    [Abstract] [Full Text] [Related]

  • 39. 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 11; 33(7):539-545. PubMed ID: 37315421
    [Abstract] [Full Text] [Related]

  • 40. Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.
    Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I.
    Mol Ther Nucleic Acids; 2014 Jun 24; 3(6):e171. PubMed ID: 24959844
    [Abstract] [Full Text] [Related]

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