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 *

181 related articles for article (PubMed ID: 15574464)

  • 1. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
    Esapa CT; McIlhinney RA; Blake DJ
    Hum Mol Genet; 2005 Jan; 14(2):295-305. PubMed ID: 15574464
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional requirements for fukutin-related protein in the Golgi apparatus.
    Esapa CT; Benson MA; Schröder JE; Martin-Rendon E; Brockington M; Brown SC; Muntoni F; Kröger S; Blake DJ
    Hum Mol Genet; 2002 Dec; 11(26):3319-31. PubMed ID: 12471058
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Subcellular localization of fukutin and fukutin-related protein in muscle cells.
    Matsumoto H; Noguchi S; Sugie K; Ogawa M; Murayama K; Hayashi YK; Nishino I
    J Biochem; 2004 Jun; 135(6):709-12. PubMed ID: 15213246
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
    Torelli S; Brown SC; Brockington M; Dolatshad NF; Jimenez C; Skordis L; Feng LH; Merlini L; Jones DH; Romero N; Wewer U; Voit T; Sewry CA; Noguchi S; Nishino I; Muntoni F
    Neuromuscul Disord; 2005 Dec; 15(12):836-43. PubMed ID: 16288869
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
    Harel T; Goldberg Y; Shalev SA; Chervinski I; Ofir R; Birk OS
    Eur J Hum Genet; 2004 Jan; 12(1):38-43. PubMed ID: 14523375
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
    MacLeod H; Pytel P; Wollmann R; Chelmicka-Schorr E; Silver K; Anderson RB; Waggoner D; McNally EM
    Neuromuscul Disord; 2007 Apr; 17(4):285-9. PubMed ID: 17336067
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
    Brockington M; Yuva Y; Prandini P; Brown SC; Torelli S; Benson MA; Herrmann R; Anderson LV; Bashir R; Burgunder JM; Fallet S; Romero N; Fardeau M; Straub V; Storey G; Pollitt C; Richard I; Sewry CA; Bushby K; Voit T; Blake DJ; Muntoni F
    Hum Mol Genet; 2001 Dec; 10(25):2851-9. PubMed ID: 11741828
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
    Dolatshad NF; Brockington M; Torelli S; Skordis L; Wever U; Wells DJ; Muntoni F; Brown SC
    Exp Cell Res; 2005 Oct; 309(2):370-8. PubMed ID: 16055117
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
    Keramaris-Vrantsis E; Lu PJ; Doran T; Zillmer A; Ashar J; Esapa CT; Benson MA; Blake DJ; Rosenfeld J; Lu QL
    Muscle Nerve; 2007 Oct; 36(4):455-65. PubMed ID: 17554798
    [TBL] [Abstract][Full Text] [Related]  

  • 12. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
    Topaloglu H; Brockington M; Yuva Y; Talim B; Haliloglu G; Blake D; Torelli S; Brown SC; Muntoni F
    Neurology; 2003 Mar; 60(6):988-92. PubMed ID: 12654965
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
    Quijano-Roy S; Martí-Carrera I; Makri S; Mayer M; Maugenre S; Richard P; Berard C; Viollet L; Leheup B; Guicheney P; Pinard JM; Estournet B; Carlier RY
    Brain Dev; 2006 May; 28(4):232-42. PubMed ID: 16368217
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
    Mercuri E; Brockington M; Straub V; Quijano-Roy S; Yuva Y; Herrmann R; Brown SC; Torelli S; Dubowitz V; Blake DJ; Romero NB; Estournet B; Sewry CA; Guicheney P; Voit T; Muntoni F
    Ann Neurol; 2003 Apr; 53(4):537-42. PubMed ID: 12666124
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Glycosylation defects: a new mechanism for muscular dystrophy?
    Grewal PK; Hewitt JE
    Hum Mol Genet; 2003 Oct; 12 Spec No 2():R259-64. PubMed ID: 12925572
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Zebrafish models for human FKRP muscular dystrophies.
    Kawahara G; Guyon JR; Nakamura Y; Kunkel LM
    Hum Mol Genet; 2010 Feb; 19(4):623-33. PubMed ID: 19955119
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
    Serafini PR; Feyder MJ; Hightower RM; Garcia-Perez D; Vieira NM; Lek A; Gibbs DE; Moukha-Chafiq O; Augelli-Szafran CE; Kawahara G; Widrick JJ; Kunkel LM; Alexander MS
    JCI Insight; 2018 Sep; 3(18):. PubMed ID: 30232282
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations alter secretion of fukutin-related protein.
    Lu PJ; Zillmer A; Wu X; Lochmuller H; Vachris J; Blake D; Chan YM; Lu QL
    Biochim Biophys Acta; 2010 Feb; 1802(2):253-8. PubMed ID: 19900540
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
    Darin N; Kroksmark AK; Ahlander AC; Moslemi AR; Oldfors A; Tulinius M
    Eur J Paediatr Neurol; 2007 Nov; 11(6):353-7. PubMed ID: 17446099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
    Brown SC; Torelli S; Brockington M; Yuva Y; Jimenez C; Feng L; Anderson L; Ugo I; Kroger S; Bushby K; Voit T; Sewry C; Muntoni F
    Am J Pathol; 2004 Feb; 164(2):727-37. PubMed ID: 14742276
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.