These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 15938568)

  • 21. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
    Reilich P; Krause S; Schramm N; Klutzny U; Bulst S; Zehetmayer B; Schneiderat P; Walter MC; Schoser B; Lochmüller H
    J Neurol; 2011 Aug; 258(8):1437-44. PubMed ID: 21336781
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.
    Pénisson-Besnier I; Hackman P; Suominen T; Sarparanta J; Huovinen S; Richard-Crémieux I; Udd B
    J Neurol Neurosurg Psychiatry; 2010 Nov; 81(11):1200-2. PubMed ID: 20571043
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities.
    Guglieri M; Magri F; Comi GP
    Clin Chim Acta; 2005 Nov; 361(1-2):54-79. PubMed ID: 16002060
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Dystrophinopathies and Limb-Girdle Muscular Dystrophies.
    Domingos J; Sarkozy A; Scoto M; Muntoni F
    Neuropediatrics; 2017 Aug; 48(4):262-272. PubMed ID: 28427100
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.
    Wang CH; Liang WC; Minami N; Nishino I; Jong YJ
    Pediatr Neonatol; 2015 Feb; 56(1):62-5. PubMed ID: 23597518
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.
    Lewis S; Woroch A; Hatch MK; Lozano R
    Genes (Basel); 2023 Aug; 14(8):. PubMed ID: 37628638
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.
    James MK; Alfano LN; Muni-Lofra R; Reash NF; Sodhi J; Iammarino MA; Moat D; Shannon K; McCallum M; Richardson M; Eagle M; Straub V; Marini-Bettolo C; Lowes LP; Mayhew AG
    Phys Ther; 2022 Oct; 102(10):. PubMed ID: 35932452
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
    Fanin M; Angelini C
    Muscle Nerve; 2015 Aug; 52(2):163-73. PubMed ID: 25900067
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
    Melià MJ; Kubota A; Ortolano S; Vílchez JJ; Gámez J; Tanji K; Bonilla E; Palenzuela L; Fernández-Cadenas I; Pristoupilová A; García-Arumí E; Andreu AL; Navarro C; Hirano M; Martí R
    Brain; 2013 May; 136(Pt 5):1508-17. PubMed ID: 23543484
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
    Vieira NM; Naslavsky MS; Licinio L; Kok F; Schlesinger D; Vainzof M; Sanchez N; Kitajima JP; Gal L; Cavaçana N; Serafini PR; Chuartzman S; Vasquez C; Mimbacas A; Nigro V; Pavanello RC; Schuldiner M; Kunkel LM; Zatz M
    Hum Mol Genet; 2014 Aug; 23(15):4103-10. PubMed ID: 24647604
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 27(7):627-630. PubMed ID: 28478914
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.
    Pogue R; Anderson LV; Pyle A; Sewry C; Pollitt C; Johnson MA; Davison K; Moss JA; Mercuri E; Muntoni F; Bushby KM
    Neuromuscul Disord; 2001 Jan; 11(1):80-7. PubMed ID: 11166169
    [TBL] [Abstract][Full Text] [Related]  

  • 33. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
    Biancheri R; Falace A; Tessa A; Pedemonte M; Scapolan S; Cassandrini D; Aiello C; Rossi A; Broda P; Zara F; Santorelli FM; Minetti C; Bruno C
    Biochem Biophys Res Commun; 2007 Nov; 363(4):1033-7. PubMed ID: 17923109
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A].
    Rudenskaya GE; Bulakh MV; Milovidova TB; Shchagina OA
    Zh Nevrol Psikhiatr Im S S Korsakova; 2018; 118(11):72-76. PubMed ID: 30585608
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.
    Straub V; Bushby K
    Neurotherapeutics; 2008 Oct; 5(4):619-26. PubMed ID: 19019315
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.
    Ramos E; Pardo S; Mas Rodríguez MF; Vélez J
    J Clin Neuromuscul Dis; 2015 Dec; 17(2):59-62. PubMed ID: 26583491
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
    Peddareddygari LR; Surgan V; Grewal RP
    J Clin Neuromuscul Dis; 2010 Dec; 12(2):62-5. PubMed ID: 21386772
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
    Müller JS; Piko H; Schoser BG; Schlotter-Weigel B; Reilich P; Gürster S; Born C; Karcagi V; Pongratz D; Lochmüller H; Walter MC
    Neuromuscul Disord; 2006 Jul; 16(7):432-6. PubMed ID: 16730439
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
    Pál E; Zima J; Hadzsiev K; Ito YA; Hartley T; ; Boycott KM; Melegh B
    Eur J Med Genet; 2019 Jul; 62(7):103662. PubMed ID: 31071488
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.
    Zima J; Eaton A; Pál E; Till Á; Ito YA; Warman-Chardon J; Hartley T; Cagnone G; Melegh BI; ; Boycott KM; Melegh B; Hadzsiev K
    Eur J Med Genet; 2020 Feb; 63(2):103655. PubMed ID: 31034989
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.