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 *

196 related articles for article (PubMed ID: 21996799)

  • 1. Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.
    Godfrey C; Clement E; Abbs S; Muntoni F
    Muscle Nerve; 2011 Sep; 44(3):388-92. PubMed ID: 21996799
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S; Foley AR; Herrmann R; Willer T; Yau S; Stevens E; Torelli S; Brodd L; Kamynina A; Vondracek P; Roper H; Longman C; Korinthenberg R; Marrosu G; Nürnberg P; ; Michele DE; Plagnol V; Hurles M; Moore SA; Sewry CA; Campbell KP; Voit T; Muntoni F
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C; Clement E; Mein R; Brockington M; Smith J; Talim B; Straub V; Robb S; Quinlivan R; Feng L; Jimenez-Mallebrera C; Mercuri E; Manzur AY; Kinali M; Torelli S; Brown SC; Sewry CA; Bushby K; Topaloglu H; North K; Abbs S; Muntoni F
    Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
    Astrea G; Romano A; Angelini C; Antozzi CG; Barresi R; Battini R; Battisti C; Bertini E; Bruno C; Cassandrini D; Fanin M; Fattori F; Fiorillo C; Guerrini R; Maggi L; Mercuri E; Morani F; Mora M; Moro F; Pezzini I; Picillo E; Pinelli M; Politano L; Rubegni A; Sanseverino W; Savarese M; Striano P; Torella A; Trevisan CP; Trovato R; Zaraieva I; Muntoni F; Nigro V; D'Amico A; Santorelli FM;
    Orphanet J Rare Dis; 2018 Sep; 13(1):170. PubMed ID: 30257713
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
    Larson AA; Baker PR; Milev MP; Press CA; Sokol RJ; Cox MO; Lekostaj JK; Stence AA; Bossler AD; Mueller JM; Prematilake K; Tadjo TF; Williams CA; Sacher M; Moore SA
    Skelet Muscle; 2018 May; 8(1):17. PubMed ID: 29855340
    [TBL] [Abstract][Full Text] [Related]  

  • 6. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
    Yanagisawa A; Bouchet C; Quijano-Roy S; Vuillaumier-Barrot S; Clarke N; Odent S; Rodriguez D; Romero NB; Osawa M; Endo T; Taratuto AL; Seta N; Guicheney P
    Eur J Med Genet; 2009; 52(4):201-6. PubMed ID: 19138766
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
    Chan YM; Keramaris-Vrantsis E; Lidov HG; Norton JH; Zinchenko N; Gruber HE; Thresher R; Blake DJ; Ashar J; Rosenfeld J; Lu QL
    Hum Mol Genet; 2010 Oct; 19(20):3995-4006. PubMed ID: 20675713
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
    Murakami T; Nishino I
    Brain Nerve; 2008 Oct; 60(10):1159-64. PubMed ID: 18975603
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
    Kanagawa M; Nishimoto A; Chiyonobu T; Takeda S; Miyagoe-Suzuki Y; Wang F; Fujikake N; Taniguchi M; Lu Z; Tachikawa M; Nagai Y; Tashiro F; Miyazaki J; Tajima Y; Takeda S; Endo T; Kobayashi K; Campbell KP; Toda T
    Hum Mol Genet; 2009 Feb; 18(4):621-31. PubMed ID: 19017726
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
    Longman C; Brockington M; Torelli S; Jimenez-Mallebrera C; Kennedy C; Khalil N; Feng L; Saran RK; Voit T; Merlini L; Sewry CA; Brown SC; Muntoni F
    Hum Mol Genet; 2003 Nov; 12(21):2853-61. PubMed ID: 12966029
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Journey into muscular dystrophies caused by abnormal glycosylation.
    Muntoni F
    Acta Myol; 2004 Sep; 23(2):79-84. PubMed ID: 15605948
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
    Martin PT
    Nat Clin Pract Neurol; 2006 Apr; 2(4):222-30. PubMed ID: 16932553
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy].
    Toda T
    Rinsho Shinkeigaku; 2005 Nov; 45(11):932-4. PubMed ID: 16447766
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
    Stevens E; Carss KJ; Cirak S; Foley AR; Torelli S; Willer T; Tambunan DE; Yau S; Brodd L; Sewry CA; Feng L; Haliloglu G; Orhan D; Dobyns WB; Enns GM; Manning M; Krause A; Salih MA; Walsh CA; Hurles M; Campbell KP; Manzini MC; ; Stemple D; Lin YY; Muntoni F
    Am J Hum Genet; 2013 Mar; 92(3):354-65. PubMed ID: 23453667
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
    Muntoni F; Torelli S; Wells DJ; Brown SC
    Curr Opin Neurol; 2011 Oct; 24(5):437-42. PubMed ID: 21825985
    [TBL] [Abstract][Full Text] [Related]  

  • 16. β-dystroglycan is regulated by a balance between WWP1-mediated degradation and protection from WWP1 by dystrophin and utrophin.
    Cho EB; Yoo W; Yoon SK; Yoon JB
    Biochim Biophys Acta Mol Basis Dis; 2018 Jun; 1864(6 Pt A):2199-2213. PubMed ID: 29635000
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
    Jensen BS; Willer T; Saade DN; Cox MO; Mozaffar T; Scavina M; Stefans VA; Winder TL; Campbell KP; Moore SA; Mathews KD
    Hum Mutat; 2015 Dec; 36(12):1159-63. PubMed ID: 26310427
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression.
    Kanagawa M; Yu CC; Ito C; Fukada S; Hozoji-Inada M; Chiyo T; Kuga A; Matsuo M; Sato K; Yamaguchi M; Ito T; Ohtsuka Y; Katanosaka Y; Miyagoe-Suzuki Y; Naruse K; Kobayashi K; Okada T; Takeda S; Toda T
    Hum Mol Genet; 2013 Aug; 22(15):3003-15. PubMed ID: 23562821
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
    Yanagisawa A; Bouchet C; Van den Bergh PY; Cuisset JM; Viollet L; Leturcq F; Romero NB; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
    Neurology; 2007 Sep; 69(12):1254-60. PubMed ID: 17634419
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Muscular dystrophies due to defective glycosylation of dystroglycan.
    Muntoni F; Brockington M; Godfrey C; Ackroyd M; Robb S; Manzur A; Kinali M; Mercuri E; Kaluarachchi M; Feng L; Jimenez-Mallebrera C; Clement E; Torelli S; Sewry CA; Brown SC
    Acta Myol; 2007 Dec; 26(3):129-35. PubMed ID: 18646561
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.