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    Results: 1 to 20 of 37

    1.

    Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.

    Paco S, Ferrer I, Jou C, Cusí V, Corbera J, Torner F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento A, Jimenez-Mallebrera C.

    J Neuropathol Exp Neurol. 2012 Oct;71(10):894-906.

    PMID:
    22975586
    [PubMed - indexed for MEDLINE]
    2.

    Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

    Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C.

    Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19.

    PMID:
    22265013
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    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;31(3):187-96. doi: 10.1016/j.matbio.2011.12.003. Epub 2011 Dec 30.

    PMID:
    22226732
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    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;22(2):139-48. doi: 10.1016/j.nmd.2011.08.006. Epub 2011 Nov 8.

    PMID:
    22075033
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.

    Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, Bernardi P.

    Oxid Med Cell Longev. 2011;2011:139194. doi: 10.1155/2011/139194. Epub 2011 Oct 17.

    PMID:
    22028947
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Moderately progressive Ullrich congenital muscular dystrophy.

    Carakushansky G, Ribeiro MG, Kahn E.

    J Pediatr (Rio J). 2012 Jan-Feb;88(1):93-6. doi: 10.2223/JPED.2112. Epub 2011 Oct 20.

    PMID:
    22016142
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies.

    Sabatelli P, Palma E, Angelin A, Squarzoni S, Urciuolo A, Pellegrini C, Tiepolo T, Bonaldo P, Gualandi F, Merlini L, Bernardi P, Maraldi NM.

    J Cell Physiol. 2012 Jul;227(7):2927-35. doi: 10.1002/jcp.23039.

    PMID:
    21953374
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    The collagen VI-related myopathies: muscle meets its matrix.

    Bönnemann CG.

    Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review.

    PMID:
    21691338
    [PubMed - indexed for MEDLINE]
    9.

    Autophagy induction rescues muscular dystrophy.

    Grumati P, Coletto L, Sandri M, Bonaldo P.

    Autophagy. 2011 Apr;7(4):426-8. doi: 10.4161/auto.7.4.14392.

    PMID:
    21543891
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

    Bönnemann CG.

    Handb Clin Neurol. 2011;101:81-96. doi: 10.1016/B978-0-08-045031-5.00005-0. Review.

    PMID:
    21496625
    [PubMed - indexed for MEDLINE]
    11.

    Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.

    Gualandi F, Curci R, Sabatelli P, Martoni E, Bovolenta M, Maraldi MN, Merlini L, Ferlini AA.

    Muscle Nerve. 2011 Jul;44(1):80-4. doi: 10.1002/mus.21999. Epub 2011 Apr 12.

    PMID:
    21488057
    [PubMed - indexed for MEDLINE]
    12.

    Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

    Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG.

    Ann Neurol. 2011 Jan;69(1):206-11. doi: 10.1002/ana.22283.

    PMID:
    21280092
    [PubMed - indexed for MEDLINE]
    13.

    Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration.

    Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, Blaauw B, Urciuolo A, Tiepolo T, Merlini L, Maraldi NM, Bernardi P, Sandri M, Bonaldo P.

    Nat Med. 2010 Nov;16(11):1313-20. doi: 10.1038/nm.2247. Epub 2010 Oct 31.

    PMID:
    21037586
    [PubMed - indexed for MEDLINE]
    14.

    Early onset collagen VI myopathies: Genetic and clinical correlations.

    Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

    Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

    PMID:
    20976770
    [PubMed - indexed for MEDLINE]
    15.

    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;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30.

    PMID:
    20882040
    [PubMed - indexed for MEDLINE]
    Free Article
    16.

    Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.

    Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR.

    J Biol Chem. 2010 Oct 22;285(43):33567-76. doi: 10.1074/jbc.M110.152520. Epub 2010 Aug 21.

    PMID:
    20729548
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

    Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T.

    Neuromuscul Disord. 2010 Aug;20(8):517-23. doi: 10.1016/j.nmd.2010.04.009. Epub 2010 Jun 23.

    PMID:
    20576434
    [PubMed - indexed for MEDLINE]
    18.

    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. doi: 10.1093/hmg/ddq126. Epub 2010 Mar 25.

    PMID:
    20338942
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    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. doi: 10.1186/1471-2350-11-44.

    PMID:
    20302629
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.

    Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F.

    Ann Neurol. 2010 Feb;67(2):201-8. doi: 10.1002/ana.21846.

    PMID:
    20225280
    [PubMed - indexed for MEDLINE]

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