BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

78 related articles for article (PubMed ID: 22150418)

  • 1. Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.
    Bartoli M; Nègre P; Wein N; Bourgeois P; Pécheux C; Lévy N; Krahn M
    Clin Genet; 2012 Jan; 81(1):99-101. PubMed ID: 22150418
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. Screening of the CAPN3 gene in patients with possible LGMD2A.
    Krahn M; Bernard R; Pecheux C; Hammouda el H; Eymard B; Lopez de Munain A; Cobo AM; Romero N; Urtizberea A; Leturcq F; Levy N;
    Clin Genet; 2006 May; 69(5):444-9. PubMed ID: 16650086
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.
    Matsuura T; Kurosaki T; Omote Y; Minami N; Hayashi YK; Nishino I; Abe K
    J Hum Genet; 2013 Aug; 58(8):564-5. PubMed ID: 23677060
    [No Abstract]   [Full Text] [Related]  

  • 8. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.
    Sinnreich M; Therrien C; Karpati G
    Neurology; 2006 Apr; 66(7):1114-6. PubMed ID: 16606933
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in the calpain 3 gene in Germany.
    Todorova A; Kress W; Mueller C
    Clin Genet; 2005 Apr; 67(4):356-8. PubMed ID: 15733273
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. 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; 26(2):165. PubMed ID: 16010686
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Symptomatic dysferlin gene mutation carriers: characterization of two cases.
    Illa I; De Luna N; Domínguez-Perles R; Rojas-García R; Paradas C; Palmer J; Márquez C; Gallano P; Gallardo E
    Neurology; 2007 Apr; 68(16):1284-9. PubMed ID: 17287450
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Calpains and disease.
    Zatz M; Starling A
    N Engl J Med; 2005 Jun; 352(23):2413-23. PubMed ID: 15944426
    [No Abstract]   [Full Text] [Related]  

  • 17. A case of dysferlinopathy presenting choreic movements.
    Takahashi T; Aoki M; Imai T; Yoshioka M; Konno H; Higano S; Onodera Y; Saito H; Kimura I; Itoyama Y
    Mov Disord; 2006 Sep; 21(9):1513-5. PubMed ID: 16817213
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Limb-girdle muscular dystrophy type 2A.
    Pradhan S
    Neurol India; 2010; 58(4):509-11. PubMed ID: 20739783
    [No Abstract]   [Full Text] [Related]  

  • 20. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
    Lo HP; Cooper ST; Evesson FJ; Seto JT; Chiotis M; Tay V; Compton AG; Cairns AG; Corbett A; MacArthur DG; Yang N; Reardon K; North KN
    Neuromuscul Disord; 2008 Jan; 18(1):34-44. PubMed ID: 17897828
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.