BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

477 related articles for article (PubMed ID: 16816913)

  • 1. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
    Pizzanelli C; Mancuso M; Galli R; Choub A; Fanin M; Nascimbeni AC; Siciliano G; Murri L
    Neurol Sci; 2006 Jun; 27(2):134-6. PubMed ID: 16816913
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
    Pathak P; Sharma MC; Sarkar C; Jha P; Suri V; Mohd H; Singh S; Bhatia R; Gulati S
    Neurol India; 2010; 58(4):549-54. PubMed ID: 20739790
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
    Groen EJ; Charlton R; Barresi R; Anderson LV; Eagle M; Hudson J; Koref MS; Straub V; Bushby KM
    Brain; 2007 Dec; 130(Pt 12):3237-49. PubMed ID: 18055493
    [TBL] [Abstract][Full Text] [Related]  

  • 4. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
    Duno M; Sveen ML; Schwartz M; Vissing J
    Eur J Hum Genet; 2008 Aug; 16(8):935-40. PubMed ID: 18337726
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
    Jenne DE; Kley RA; Vorgerd M; Schröder JM; Weis J; Reimann H; Albrecht B; Nürnberg P; Thiele H; Müller CR; Meng G; Witt CC; Labeit S
    Biol Chem; 2005 Jan; 386(1):61-7. PubMed ID: 15843148
    [TBL] [Abstract][Full Text] [Related]  

  • 6. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
    Sáenz A; Leturcq F; Cobo AM; Poza JJ; Ferrer X; Otaegui D; Camaño P; Urtasun M; Vílchez J; Gutiérrez-Rivas E; Emparanza J; Merlini L; Paisán C; Goicoechea M; Blázquez L; Eymard B; Lochmuller H; Walter M; Bonnemann C; Figarella-Branger D; Kaplan JC; Urtizberea JA; Martí-Massó JF; López de Munain A
    Brain; 2005 Apr; 128(Pt 4):732-42. PubMed ID: 15689361
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
    Chrobáková T; Hermanová M; Kroupová I; Vondrácek P; Maríková T; Mazanec R; Zámecník J; Stanek J; Havlová M; Fajkusová L
    Neuromuscul Disord; 2004 Oct; 14(10):659-65. PubMed ID: 15351423
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
    Jaka O; Azpitarte M; Paisán-Ruiz C; Zulaika M; Casas-Fraile L; Sanz R; Trevisiol N; Levy N; Bartoli M; Krahn M; López de Munain A; Sáenz A
    Muscle Nerve; 2014 Sep; 50(3):448-53. PubMed ID: 24715573
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M; Zapletalová E; Sedlácková J; Chrobáková T; Letocha O; Kroupová I; Zámecník J; Vondrácek P; Mazanec R; Maríková T; Vohánka S; Fajkusová L
    Muscle Nerve; 2006 Mar; 33(3):424-32. PubMed ID: 16372320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
    Krahn M; Pécheux C; Chapon F; Béroud C; Drouin-Garraud V; Laforet P; Romero NB; Penisson-Besnier I; Bernard R; Urtizberea JA; Leturcq F; Lévy N
    Clin Genet; 2007 Dec; 72(6):582-92. PubMed ID: 17979987
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    Hadj Salem I; Kamoun F; Louhichi N; Rouis S; Mziou M; Fendri-Kriaa N; Makni-Ayadi F; Triki C; Fakhfakh F
    Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
    Stehlíková K; Zapletalová E; Sedlácková J; Hermanová M; Vondrácek P; Maríková T; Mazanec R; Zámecník J; Vohánka S; Fajkus J; Fajkusová L
    Neuromuscul Disord; 2007 Feb; 17(2):143-7. PubMed ID: 17157502
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
    van der Kooi AJ; Frankhuizen WS; Barth PG; Howeler CJ; Padberg GW; Spaans F; Wintzen AR; Wokke JH; van Ommen GJ; de Visser M; Bakker E; Ginjaar HB
    Neurology; 2007 Jun; 68(24):2125-8. PubMed ID: 17562833
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
    Starling A; Schlesinger D; Kok F; Passos-Bueno MR; Vainzof M; Zatz M
    Neurology; 2005 Dec; 65(11):1832-3. PubMed ID: 16344536
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
    Shin JH; Kim HS; Lee CH; Kim CM; Park KH; Kim DS
    J Korean Med Sci; 2007 Jun; 22(3):463-9. PubMed ID: 17596655
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].
    Perez F; Vital A; Martin-Negrier ML; Ferrer X; Sole G
    Rev Neurol (Paris); 2010 May; 166(5):502-8. PubMed ID: 20044116
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
    Vissing J; Barresi R; Witting N; Van Ghelue M; Gammelgaard L; Bindoff LA; Straub V; Lochmüller H; Hudson J; Wahl CM; Arnardottir S; Dahlbom K; Jonsrud C; Duno M
    Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
    Bartoli M; Roudaut C; Martin S; Fougerousse F; Suel L; Poupiot J; Gicquel E; Noulet F; Danos O; Richard I
    Mol Ther; 2006 Feb; 13(2):250-9. PubMed ID: 16290124
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 24.