BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

353 related articles for article (PubMed ID: 20516809)

  • 1. Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.
    Golla S; Agadi S; Burns DK; Marks W; Dev Batish S; del Gaudio D; Iannaccone ST
    J Clin Neuromuscul Dis; 2010 Jun; 11(4):203-8. PubMed ID: 20516809
    [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. Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.
    Fendri K; Kefi M; Hentati F; Amouri R
    Neuromuscul Disord; 2006 May; 16(5):316-20. PubMed ID: 16616845
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Autosomal recessive limb-girdle muscular dystrophy].
    Hernández-Caballero ME; Miranda-Duarte A; Escobar-Cedillo RE; Villegas-Castrejon H
    Rev Neurol; 2010 Oct; 51(8):489-96. PubMed ID: 20925031
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Novel mutations in three patients with LGMD2C with phenotypic differences.
    Vermeer S; Verrips A; Willemsen MA; ter Laak HJ; Ginjaar IB; Hamel BC
    Pediatr Neurol; 2004 Apr; 30(4):291-4. PubMed ID: 15087111
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 78(12):897-903. PubMed ID: 22402862
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
    Udd B; Vihola A; Sarparanta J; Richard I; Hackman P
    Neurology; 2005 Feb; 64(4):636-42. PubMed ID: 15728284
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.
    Wong-Kisiel LC; Kuntz NL
    Neuromuscul Disord; 2010 Feb; 20(2):122-4. PubMed ID: 20071171
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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. Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected].
    Sharma MC; Mannan R; Singh NG; Gulati S; Kalra V; Sarkar C
    Neurol India; 2004 Dec; 52(4):446-9. PubMed ID: 15626830
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    Shalaby S; Mitsuhashi H; Matsuda C; Minami N; Noguchi S; Nonaka I; Nishino I; Hayashi YK
    J Neuropathol Exp Neurol; 2009 Jun; 68(6):701-7. PubMed ID: 19458539
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 78(16):1258-63. PubMed ID: 22491857
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene.
    Nakamura A; Yoshida K; Fukushima K; Ueda H; Urasawa N; Koyama J; Yazaki Y; Yazaki M; Sakai T; Haruta S; Takeda S; Ikeda S
    J Clin Neurosci; 2008 Jul; 15(7):757-63. PubMed ID: 18261911
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
    Babameto-Laku A; Tabaku M; Tashko V; Cikuli M; Mokini V
    Genet Couns; 2011; 22(4):377-83. PubMed ID: 22303798
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.