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Journal Abstract Search

307 related items for PubMed ID: 25574751

  • 21. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
    Li L, Jing Z, Cheng L, Liu W, Wang H, Xu Y, Zheng X, Yu X, Liu S.
    J Gene Med; 2020 Nov; 22(11):e3272. PubMed ID: 32889728
    [Abstract] [Full Text] [Related]

  • 22. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
    Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K.
    Neurology; 2000 Dec 26; 55(12):1931-3. PubMed ID: 11134403
    [Abstract] [Full Text] [Related]

  • 23. A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
    Spadafora P, Qualtieri A, Cavalcanti F, Di Palma G, Gallo O, De Benedittis S, Cerantonio A, Citrigno L.
    Int J Mol Sci; 2022 Aug 11; 23(16):. PubMed ID: 36012197
    [Abstract] [Full Text] [Related]

  • 24. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
    Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.
    Muscle Nerve; 2013 May 11; 47(5):740-7. PubMed ID: 23519732
    [Abstract] [Full Text] [Related]

  • 25. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
    Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N.
    Hum Mutat; 2005 Aug 11; 26(2):165. PubMed ID: 16010686
    [Abstract] [Full Text] [Related]

  • 26. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
    Ten Dam L, van der Kooi AJ, Rövekamp F, Linssen WH, de Visser M.
    Neuromuscul Disord; 2014 Dec 11; 24(12):1097-102. PubMed ID: 25176504
    [Abstract] [Full Text] [Related]

  • 27. Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review.
    Xu C, Chen J, Zhang Y, Li J.
    Medicine (Baltimore); 2018 May 11; 97(21):e10539. PubMed ID: 29794729
    [Abstract] [Full Text] [Related]

  • 28. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
    Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B.
    Am J Hum Genet; 2010 Feb 12; 86(2):213-21. PubMed ID: 20096397
    [Abstract] [Full Text] [Related]

  • 29. Dysferlin mutations and mitochondrial dysfunction.
    Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM.
    Neuromuscul Disord; 2016 Nov 12; 26(11):782-788. PubMed ID: 27666772
    [Abstract] [Full Text] [Related]

  • 30. Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.
    Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P.
    Exp Neurol; 2016 Sep 12; 283(Pt A):246-54. PubMed ID: 27349407
    [Abstract] [Full Text] [Related]

  • 31. Translational research and therapeutic perspectives in dysferlinopathies.
    Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M.
    Mol Med; 2011 Sep 12; 17(9-10):875-82. PubMed ID: 21556485
    [Abstract] [Full Text] [Related]

  • 32. Late onset in dysferlinopathy widens the clinical spectrum.
    Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Müller JS, Anderson LV, Straub V, Barresi R, Lochmüller H, Bushby K.
    Neuromuscul Disord; 2008 Apr 12; 18(4):288-90. PubMed ID: 18396043
    [Abstract] [Full Text] [Related]

  • 33. New aspects on patients affected by dysferlin deficient muscular dystrophy.
    Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K.
    J Neurol Neurosurg Psychiatry; 2010 Sep 12; 81(9):946-53. PubMed ID: 19528035
    [Abstract] [Full Text] [Related]

  • 34. Dysferlin protein analysis in limb-girdle muscular dystrophies.
    Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.
    J Mol Neurosci; 2001 Aug 12; 17(1):71-80. PubMed ID: 11665864
    [Abstract] [Full Text] [Related]

  • 35. Progress and challenges in diagnosis of dysferlinopathy.
    Fanin M, Angelini C.
    Muscle Nerve; 2016 Nov 12; 54(5):821-835. PubMed ID: 27501525
    [Abstract] [Full Text] [Related]

  • 36. Dysferlinopathies.
    Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N.
    Neurol India; 2008 Nov 12; 56(3):289-97. PubMed ID: 18974555
    [Abstract] [Full Text] [Related]

  • 37. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
    Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK.
    Eur J Neurol; 2004 Oct 12; 11(10):657-61. PubMed ID: 15469449
    [Abstract] [Full Text] [Related]

  • 38. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
    Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, Chiu YH, Hornsey M, Straub V, Barresi R, Lochmüller H, Bushby K.
    Muscle Nerve; 2010 Feb 12; 41(2):166-73. PubMed ID: 20082313
    [Abstract] [Full Text] [Related]

  • 39. Dysferlinopathy in Iran: Clinical and genetic report.
    Fatehi F, Nafissi S, Urtizberea JA, Blanck-Labelle V, Lévy N, Krahn M, Dbouk MB, Attarian S.
    J Neurol Sci; 2015 Dec 15; 359(1-2):256-9. PubMed ID: 26671124
    [Abstract] [Full Text] [Related]

  • 40. Novel DYSF mutations in Thai patients with distal myopathy.
    Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Sopassathit V, Phudhichareonrat S, Suthiponpaisan U, Raksadawan N, Goto K, Hayashi YK, Nishino I.
    Clin Neurol Neurosurg; 2009 Sep 15; 111(7):613-8. PubMed ID: 19493611
    [Abstract] [Full Text] [Related]

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