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Journal Abstract Search

390 related items for PubMed ID: 22068469

  • 1. [Collagen VI-related muscle disorders].
    Higuchi I.
    Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
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  • 3. 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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  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993 Jan 15. PubMed ID: 20301676
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  • 5. Collagen type VI myopathies.
    Bushby KM, Collins J, Hicks D.
    Adv Exp Med Biol; 2014 Jan 15; 802():185-99. PubMed ID: 24443028
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  • 6. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
    Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P.
    Neuropediatrics; 2004 Apr 15; 35(2):103-12. PubMed ID: 15127309
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  • 7. 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 15; 29(9):657-663. PubMed ID: 31471117
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  • 8. Collagen VI related muscle disorders.
    Lampe AK, Bushby KM.
    J Med Genet; 2005 Sep 15; 42(9):673-85. PubMed ID: 16141002
    [Abstract] [Full Text] [Related]

  • 9. 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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  • 10. 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
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  • 11. 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 11; 41(2):95-98. PubMed ID: 35832501
    [Abstract] [Full Text] [Related]

  • 12. 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 11; 17(7):547-57. PubMed ID: 17537636
    [Abstract] [Full Text] [Related]

  • 13. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Bönnemann CG.
    Handb Clin Neurol; 2011 Jul 11; 101():81-96. PubMed ID: 21496625
    [Abstract] [Full Text] [Related]

  • 14. 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 11; 192():105734. PubMed ID: 32065942
    [Abstract] [Full Text] [Related]

  • 15. 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 11; 42(2):108-20. PubMed ID: 15689448
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  • 19. Collagen VI in the Musculoskeletal System.
    Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C.
    Int J Mol Sci; 2023 Mar 07; 24(6):. PubMed ID: 36982167
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