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 *

461 related articles for article (PubMed ID: 17562833)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S; Hayashi YK; Goto K; Astejada MN; Murakami T; Nagato M; Ohta S; Daimon Y; Takekawa H; Hirata K; Nonaka I; Noguchi S; Nishino I
    Arch Neurol; 2007 Jul; 64(7):1038-41. PubMed ID: 17620497
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Two novel CAV3 gene mutations in Japanese families.
    Sugie K; Murayama K; Noguchi S; Murakami N; Mochizuki M; Hayashi YK; Nonaka I; Nishino I
    Neuromuscul Disord; 2004 Dec; 14(12):810-4. PubMed ID: 15564037
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Continued need for caution in the diagnosis of Duchenne muscular dystrophy.
    Griggs RC; Bushby K
    Neurology; 2005 May; 64(9):1498-9. PubMed ID: 15883307
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.
    Therrien C; Dodig D; Karpati G; Sinnreich M
    J Neurol Sci; 2006 Dec; 250(1-2):71-8. PubMed ID: 16996541
    [TBL] [Abstract][Full Text] [Related]  

  • 17. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
    Schwartz M; Hertz JM; Sveen ML; Vissing J
    Neurology; 2005 May; 64(9):1635-7. PubMed ID: 15883334
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.
    Fanin M; Nascimbeni AC; Aurino S; Tasca E; Pegoraro E; Nigro V; Angelini C
    Neurology; 2009 Apr; 72(16):1432-5. PubMed ID: 19380703
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
    Vieira NM; Schlesinger D; de Paula F; Vainzof M; Zatz M
    Neuromuscul Disord; 2006 Dec; 16(12):870-3. PubMed ID: 17113772
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 24.