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 *

296 related articles for article (PubMed ID: 17163796)

  • 1. The congenital muscular dystrophies: recent advances and molecular insights.
    Mendell JR; Boué DR; Martin PT
    Pediatr Dev Pathol; 2006; 9(6):427-43. PubMed ID: 17163796
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnosis and etiology of congenital muscular dystrophy.
    Peat RA; Smith JM; Compton AG; Baker NL; Pace RA; Burkin DJ; Kaufman SJ; Lamandé SR; North KN
    Neurology; 2008 Jul; 71(5):312-21. PubMed ID: 18160674
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
    Brockington M; Blake DJ; Prandini P; Brown SC; Torelli S; Benson MA; Ponting CP; Estournet B; Romero NB; Mercuri E; Voit T; Sewry CA; Guicheney P; Muntoni F
    Am J Hum Genet; 2001 Dec; 69(6):1198-209. PubMed ID: 11592034
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Congenital muscular dystrophies in children].
    Scavone-Mauro C; Barros G
    Rev Neurol; 2013 Sep; 57 Suppl 1():S47-52. PubMed ID: 23897156
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital muscular dystrophies: toward molecular therapeutic interventions.
    Collins J; Bönnemann CG
    Curr Neurol Neurosci Rep; 2010 Mar; 10(2):83-91. PubMed ID: 20425232
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
    Mohamadian M; Naseri M; Ghandil P; Bahrami A; Momen AA
    J Gene Med; 2020 Dec; 22(12):e3265. PubMed ID: 32864802
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.
    Yamamoto T; Kato Y; Kawaguchi M; Shibata N; Kobayashi M
    Med Electron Microsc; 2004 Dec; 37(4):200-7. PubMed ID: 15614444
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital muscular dystrophies: What is new?
    Zambon AA; Muntoni F
    Neuromuscul Disord; 2021 Oct; 31(10):931-942. PubMed ID: 34470717
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Congenital muscular dystrophy in a new age.
    Day JW
    Neurology; 2008 Jul; 71(5):308-9. PubMed ID: 18663176
    [No Abstract]   [Full Text] [Related]  

  • 11. [Recent advances in congenital muscular dystrophy research].
    Nonaka I
    No To Hattatsu; 2005 Mar; 37(2):115-21. PubMed ID: 15773323
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
    Okamoto Y; Takashima H; Higuchi I; Matsuyama W; Suehara M; Nishihira Y; Hashiguchi A; Hirano R; Ng AR; Nakagawa M; Izumo S; Osame M; Arimura K
    Neurogenetics; 2006 Jul; 7(3):175-83. PubMed ID: 16779558
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
    Taniguchi M; Kurahashi H; Noguchi S; Sese J; Okinaga T; Tsukahara T; Guicheney P; Ozono K; Nishino I; Morishita S; Toda T
    Biochem Biophys Res Commun; 2006 Apr; 342(2):489-502. PubMed ID: 16487936
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [Selenoprotein-related muscular dystrophy].
    Hansen LK; Schrøder H; Ousager L
    Ugeskr Laeger; 2011 Nov; 173(48):3116-7. PubMed ID: 22118657
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SEPN1-related Rigid Spine Muscular Dystrophy.
    Saini AG; Padmanabha H; Kumar S; Sankhyan N; Singhi P
    Indian J Pediatr; 2018 Nov; 85(11):1033-1034. PubMed ID: 29850975
    [No Abstract]   [Full Text] [Related]  

  • 17. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
    Hafner P; Bonati U; Fischmann A; Schneider J; Frank S; Morris-Rosendahl DJ; Dumea A; Heinimann K; Fischer D
    Neuromuscul Disord; 2014 Apr; 24(4):321-4. PubMed ID: 24556424
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The childhood muscular dystrophies: making order out of chaos.
    Tsao CY; Mendell JR
    Semin Neurol; 1999; 19(1):9-23. PubMed ID: 10711985
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
    Louhichi N; Triki C; Quijano-Roy S; Richard P; Makri S; Méziou M; Estournet B; Mrad S; Romero NB; Ayadi H; Guicheney P; Fakhfakh F
    Neurogenetics; 2004 Feb; 5(1):27-34. PubMed ID: 14652796
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.
    Eymard B; Ferreiro A; Ben Yaou R; Stojkovic T
    Rev Neurol (Paris); 2013; 169(8-9):546-63. PubMed ID: 24021317
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.