These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

218 related items for PubMed ID: 18378883

  • 1. A refined diagnostic algorithm for Bethlem myopathy.
    Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K.
    Neurology; 2008 Apr 01; 70(14):1192-9. PubMed ID: 18378883
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 29(6):809-22. PubMed ID: 18366090
    [Abstract] [Full Text] [Related]

  • 3. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
    Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F.
    Neuromuscul Disord; 2006 Oct 01; 16(9-10):571-82. PubMed ID: 16935502
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 22(2):139-48. PubMed ID: 22075033
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 132(Pt 1):147-55. PubMed ID: 19015158
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 29(9):657-663. PubMed ID: 31471117
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.
    Fu J, Zheng YM, Jin SQ, Yi JF, Liu XJ, Lyn H, Wang ZX, Zhang W, Xiao JX, Yuan Y.
    Chin Med J (Engl); 2016 Aug 05; 129(15):1811-6. PubMed ID: 27453230
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.
    Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG.
    J Neuropathol Exp Neurol; 2008 Feb 26; 67(2):144-54. PubMed ID: 18219255
    [Abstract] [Full Text] [Related]

  • 11. Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.
    Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R.
    Matrix Biol; 2012 Apr 26; 31(3):187-96. PubMed ID: 22226732
    [Abstract] [Full Text] [Related]

  • 12. 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 26; 131(1):99-107. PubMed ID: 20882040
    [Abstract] [Full Text] [Related]

  • 13. Collagen VI related muscle disorders.
    Lampe AK, Bushby KM.
    J Med Genet; 2005 Sep 26; 42(9):673-85. PubMed ID: 16141002
    [Abstract] [Full Text] [Related]

  • 14. Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.
    Fan Y, Liu A, Wei C, Yang H, Chang X, Wang S, Yuan Y, Bonnemann C, Wu Q, Wu X, Xiong H.
    Clin Genet; 2018 Jun 26; 93(6):1159-1171. PubMed ID: 29419890
    [Abstract] [Full Text] [Related]

  • 15. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
    Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G.
    Neurology; 2005 Jun 14; 64(11):1931-7. PubMed ID: 15955946
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. 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]

  • 19. 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 15; 42(2):108-20. PubMed ID: 15689448
    [Abstract] [Full Text] [Related]

  • 20. Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
    Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.
    Biochim Biophys Acta; 2014 Sep 15; 1842(9):1604-12. PubMed ID: 24907562
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 11.