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756 related items for PubMed ID: 25663498

  • 21. Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.
    Lin HT, Liu X, Zhang W, Liu J, Zuo YH, Xiao JX, Zhu Y, Yuan Y, Wang ZX.
    Chin Med J (Engl); 2018 Jun 20; 131(12):1472-1479. PubMed ID: 29893365
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  • 22. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
    Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC.
    PLoS One; 2017 Jun 20; 12(1):e0170280. PubMed ID: 28103310
    [Abstract] [Full Text] [Related]

  • 23. An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy.
    Saluja A, Ghotekar LH, Anees S, Haque A, Dhamija RK.
    Cureus; 2024 Jun 20; 16(6):e61897. PubMed ID: 38975466
    [Abstract] [Full Text] [Related]

  • 24. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
    Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B.
    Neurology; 2012 Mar 20; 78(12):897-903. PubMed ID: 22402862
    [Abstract] [Full Text] [Related]

  • 25. A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.
    Specht S, Duff J, Charlton R, Polvikoski T, Barresi R, Töpf A, Straub V.
    Neuromuscul Disord; 2021 Jul 20; 31(7):660-665. PubMed ID: 34074572
    [Abstract] [Full Text] [Related]

  • 26. Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
    Montagnese F, Klupp E, Karampinos DC, Biskup S, Gläser D, Kirschke JS, Schoser B.
    Muscle Nerve; 2017 Aug 20; 56(2):334-340. PubMed ID: 27874200
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  • 27. Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy.
    Tan D, Ge L, Fan Y, Wei C, Yang H, Liu A, Xiao J, Xiong H, Zhu Y.
    Neuromuscul Disord; 2021 Nov 20; 31(11):1144-1153. PubMed ID: 34702656
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  • 28. COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study.
    Verma S, Goyal P, Guglani L, Peinhardt C, Pelzek D, Barkhaus PE.
    J Clin Neuromuscul Dis; 2018 Mar 20; 19(3):108-116. PubMed ID: 29465610
    [Abstract] [Full Text] [Related]

  • 29. Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of laminin-α2 related congenital muscular dystrophy.
    Barraza-Flores P, Bukovec KE, Dagda M, Conner BW, Oliveira-Santos A, Grange RW, Burkin DJ.
    Hum Mol Genet; 2020 Aug 03; 29(13):2162-2170. PubMed ID: 32472139
    [Abstract] [Full Text] [Related]

  • 30. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
    Balcin H, Palmio J, Penttilä S, Nennesmo I, Lindfors M, Solders G, Udd B.
    Neuromuscul Disord; 2017 Jul 03; 27(7):627-630. PubMed ID: 28478914
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  • 31. Muscle MRI findings in limb girdle muscular dystrophy type 2L.
    Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S122-9. PubMed ID: 22980763
    [Abstract] [Full Text] [Related]

  • 32. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.
    Mol Genet Metab; 2013 Nov 01; 110(3):287-9. PubMed ID: 24011652
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  • 33. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
    Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F.
    Hum Mol Genet; 2001 Dec 01; 10(25):2851-9. PubMed ID: 11741828
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  • 34. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
    Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC.
    BMC Neurol; 2021 Aug 12; 21(1):313. PubMed ID: 34384384
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  • 35. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
    Lorenzoni PJ, Kay CSK, Arndt RC, Hrysay NMC, Ducci RD, Fustes OHJ, Töpf A, Lochmüller H, Werneck LC, Scola RH.
    J Clin Neurosci; 2020 May 12; 75():195-198. PubMed ID: 32238315
    [Abstract] [Full Text] [Related]

  • 36. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
    Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E.
    Clin Genet; 2008 Dec 12; 74(6):502-12. PubMed ID: 18700894
    [Abstract] [Full Text] [Related]

  • 37. High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
    Beytía Mde L, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J.
    Mol Cell Probes; 2014 Aug 12; 28(4):118-22. PubMed ID: 24225367
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  • 38. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.
    Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D, Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF.
    Neurology; 2012 Apr 17; 78(16):1258-63. PubMed ID: 22491857
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  • 39. Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
    Louhichi N, Richard P, Triki CH, Meziou M, Ayadi H, Guicheney P, Fakhfakh F.
    Arch Inst Pasteur Tunis; 2006 Apr 17; 83(1-4):19-23. PubMed ID: 19388593
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  • 40. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
    Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.
    Arch Neurol; 2005 Dec 17; 62(12):1894-9. PubMed ID: 16344347
    [Abstract] [Full Text] [Related]

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