823 related articles for article (PubMed ID: 11592034)
1. 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]
2. 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]
3. 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]
4. 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]
5. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
Hayashi YK; Ogawa M; Tagawa K; Noguchi S; Ishihara T; Nonaka I; Arahata K
Neurology; 2001 Jul; 57(1):115-21. PubMed ID: 11445638
[TBL] [Abstract][Full Text] [Related]
6. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
Thornhill P; Bassett D; Lochmüller H; Bushby K; Straub V
Brain; 2008 Jun; 131(Pt 6):1551-61. PubMed ID: 18477595
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
Nissinen M; Helbling-Leclerc A; Zhang X; Evangelista T; Topaloglu H; Cruaud C; Weissenbach J; Fardeau M; Tomé FM; Schwartz K; Tryggvason K; Guicheney P
Am J Hum Genet; 1996 Jun; 58(6):1177-84. PubMed ID: 8651294
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.
Driss A; Noguchi S; Amouri R; Kefi M; Sasaki T; Sugie K; Souilem S; Hayashi YK; Shimizu N; Minoshima S; Kudoh J; Hentati F; Nishino I
Neurology; 2003 Apr; 60(8):1341-4. PubMed ID: 12707439
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
Brockington M; Sewry CA; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; Voit T; Muntoni F
Am J Hum Genet; 2000 Feb; 66(2):428-35. PubMed ID: 10677302
[TBL] [Abstract][Full Text] [Related]
13. Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle.
Cohn RD; Mayer U; Saher G; Herrmann R; van der Flier A; Sonnenberg A; Sorokin L; Voit T
J Neurol Sci; 1999 Mar; 163(2):140-52. PubMed ID: 10371075
[TBL] [Abstract][Full Text] [Related]
14. Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.
Yoshioka M; Kobayashi K; Toda T
Brain Dev; 2017 Nov; 39(10):869-872. PubMed ID: 28629604
[TBL] [Abstract][Full Text] [Related]
15. Glycosylation defects in inherited muscle disease.
Hewitt JE; Grewal PK
Cell Mol Life Sci; 2003 Feb; 60(2):251-8. PubMed ID: 12678490
[TBL] [Abstract][Full Text] [Related]
16. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Hillaire D; Leclerc A; Fauré S; Topaloglu H; Chiannilkulchaï N; Guicheney P; Grinas L; Legos P; Philpot J; Evangelista T
Hum Mol Genet; 1994 Sep; 3(9):1657-61. PubMed ID: 7833925
[TBL] [Abstract][Full Text] [Related]
17. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
Toda T; Kobayashi K; Takeda S; Sasaki J; Kurahashi H; Kano H; Tachikawa M; Wang F; Nagai Y; Taniguchi K; Taniguchi M; Sunada Y; Terashima T; Endo T; Matsumura K
Congenit Anom (Kyoto); 2003 Jun; 43(2):97-104. PubMed ID: 12893968
[TBL] [Abstract][Full Text] [Related]
18. Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin.
Tachi N; Ohya K; Chiba S; Matsuo M; Patria SY; Matsumura K
Neurology; 1997 Aug; 49(2):579-83. PubMed ID: 9270600
[TBL] [Abstract][Full Text] [Related]
19. POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
von Renesse A; Petkova MV; Lützkendorf S; Heinemeyer J; Gill E; Hübner C; von Moers A; Stenzel W; Schuelke M
J Med Genet; 2014 Apr; 51(4):275-82. PubMed ID: 24556084
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]
