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    Results: 1 to 20 of 30

    1.

    Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.

    Mahjneh I, Bashir R, Kiuru-Enari S, Linssen W, Lamminen A, Visser Md.

    Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S130-6. doi: 10.1016/j.nmd.2012.02.007.

    PMID:
    22980764
    [PubMed - indexed for MEDLINE]
    2.

    Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

    Pitceathly RD, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Morrow JM, Evans J, Smith C, Fratter C, Woodward CE, Sweeney MG, Rahman S, Hanna MG.

    J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):107-10. doi: 10.1136/jnnp-2012-303232. Epub 2012 Aug 29.

    PMID:
    22933815
    [PubMed - indexed for MEDLINE]
    3.

    The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.

    Mignarri A, Carluccio MA, Malandrini A, Sicurelli F, Galli L, Mazzei MA, Federico A, Orrico A, Dotti MT.

    Neuromuscul Disord. 2012 Aug;22(8):759-62. doi: 10.1016/j.nmd.2012.03.010. Epub 2012 May 29.

    PMID:
    22652077
    [PubMed - indexed for MEDLINE]
    4.

    ZASPopathy with childhood-onset distal myopathy.

    Strach K, Reimann J, Thomas D, Naehle CP, Kress W, Kornblum C.

    J Neurol. 2012 Jul;259(7):1494-6. doi: 10.1007/s00415-012-6543-1. Epub 2012 May 23.

    PMID:
    22619057
    [PubMed - indexed for MEDLINE]
    5.

    Aquaporin-4 expression in distal myopathy with rimmed vacuoles.

    Hoshi A, Yamamoto T, Kikuchi S, Soeda T, Shimizu K, Ugawa Y.

    BMC Neurol. 2012 Apr 27;12:22. doi: 10.1186/1471-2377-12-22.

    PMID:
    22540328
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    New phenotype and pathology features in MYH7-related distal myopathy.

    Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B.

    Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20.

    PMID:
    22521714
    [PubMed - indexed for MEDLINE]
    7.

    Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

    Schessl J, Kress W, Schoser B.

    Muscle Nerve. 2012 May;45(5):740-2. doi: 10.1002/mus.23281.

    PMID:
    22499103
    [PubMed - indexed for MEDLINE]
    8.

    Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

    Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B.

    Rev Neurol (Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005. Epub 2012 Feb 13.

    PMID:
    22336395
    [PubMed - indexed for MEDLINE]
    9.

    Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

    Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.

    J Biol Chem. 2012 Mar 23;287(13):10344-54. doi: 10.1074/jbc.M111.329078. Epub 2012 Feb 8.

    PMID:
    22318734
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Distal myopathies--new genetic entities expand diagnostic challenge.

    Udd B.

    Neuromuscul Disord. 2012 Jan;22(1):5-12. doi: 10.1016/j.nmd.2011.10.003. Epub 2011 Dec 23. Review.

    PMID:
    22197426
    [PubMed - indexed for MEDLINE]
    11.

    Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.

    Lu X, Pu C, Huang X, Liu J, Mao Y.

    Neurol Res. 2011 Dec;33(10):1025-31. doi: 10.1179/1743132811Y.0000000070.

    PMID:
    22196754
    [PubMed - indexed for MEDLINE]
    12.

    Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.

    Malicdan MC, Noguchi S, Tokutomi T, Goto Y, Nonaka I, Hayashi YK, Nishino I.

    J Biol Chem. 2012 Jan 20;287(4):2689-705. doi: 10.1074/jbc.M111.297051. Epub 2011 Dec 8.

    PMID:
    22157763
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Effects of pathogenic proline mutations on myosin assembly.

    Buvoli M, Buvoli A, Leinwand LA.

    J Mol Biol. 2012 Feb 3;415(5):807-18. doi: 10.1016/j.jmb.2011.11.042. Epub 2011 Dec 6.

    PMID:
    22155079
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.

    Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A.

    Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30.

    PMID:
    22131542
    [PubMed - indexed for MEDLINE]
    15.

    Characterization of the Asian myopathy patients with VCP mutations.

    Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I.

    Eur J Neurol. 2012 Mar;19(3):501-9. doi: 10.1111/j.1468-1331.2011.03575.x. Epub 2011 Oct 31.

    PMID:
    22040362
    [PubMed - indexed for MEDLINE]
    16.

    Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

    Kostareva A, Sjoberg G, Gudkova A, Smolina N, Semernin E, Shlyakhto E, Sejersen T.

    Acta Myol. 2011 Jun;30(1):42-5.

    PMID:
    21842594
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

    Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.

    Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.

    PMID:
    21724397
    [PubMed - indexed for MEDLINE]
    18.

    Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

    Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B.

    Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008.

    PMID:
    21684747
    [PubMed - indexed for MEDLINE]
    19.

    Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

    Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG.

    Am J Hum Genet. 2011 Jun 10;88(6):729-40. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.

    PMID:
    21620354
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

    Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.

    Eur J Hum Genet. 2011 Sep;19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27.

    PMID:
    21522182
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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