1036 related articles for article (PubMed ID: 12966029)
1. 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]
2. 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]
3. 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]
4. 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]
5. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
Matsumoto H; Hayashi YK; Kim DS; Ogawa M; Murakami T; Noguchi S; Nonaka I; Nakazawa T; Matsuo T; Futagami S; Campbell KP; Nishino I
Neuromuscul Disord; 2005 May; 15(5):342-8. PubMed ID: 15833426
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. [Dystroglycan linkage and muscular dystrophy].
Shimizu T
Rinsho Shinkeigaku; 2002 Nov; 42(11):1091-4. PubMed ID: 12784674
[TBL] [Abstract][Full Text] [Related]
8. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
Michele DE; Barresi R; Kanagawa M; Saito F; Cohn RD; Satz JS; Dollar J; Nishino I; Kelley RI; Somer H; Straub V; Mathews KD; Moore SA; Campbell KP
Nature; 2002 Jul; 418(6896):417-22. PubMed ID: 12140558
[TBL] [Abstract][Full Text] [Related]
9. Deficiency of alpha-dystroglycan in muscle-eye-brain disease.
Kano H; Kobayashi K; Herrmann R; Tachikawa M; Manya H; Nishino I; Nonaka I; Straub V; Talim B; Voit T; Topaloglu H; Endo T; Yoshikawa H; Toda T
Biochem Biophys Res Commun; 2002 Mar; 291(5):1283-6. PubMed ID: 11883957
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.
Moore SA; Saito F; Chen J; Michele DE; Henry MD; Messing A; Cohn RD; Ross-Barta SE; Westra S; Williamson RA; Hoshi T; Campbell KP
Nature; 2002 Jul; 418(6896):422-5. PubMed ID: 12140559
[TBL] [Abstract][Full Text] [Related]
12. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Brockington M; Torelli S; Prandini P; Boito C; Dolatshad NF; Longman C; Brown SC; Muntoni F
Hum Mol Genet; 2005 Mar; 14(5):657-65. PubMed ID: 15661757
[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. Protein glycosylation in disease: new insights into the congenital muscular dystrophies.
Martin-Rendon E; Blake DJ
Trends Pharmacol Sci; 2003 Apr; 24(4):178-83. PubMed ID: 12707004
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
van Reeuwijk J; Janssen M; van den Elzen C; Beltran-Valero de Bernabé D; Sabatelli P; Merlini L; Boon M; Scheffer H; Brockington M; Muntoni F; Huynen MA; Verrips A; Walsh CA; Barth PG; Brunner HG; van Bokhoven H
J Med Genet; 2005 Dec; 42(12):907-12. PubMed ID: 15894594
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin].
Toda T
Rinsho Shinkeigaku; 2007 Nov; 47(11):743-8. PubMed ID: 18210789
[TBL] [Abstract][Full Text] [Related]
19. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Lim BC; Ki CS; Kim JW; Cho A; Kim MJ; Hwang H; Kim KJ; Hwang YS; Park WY; Lim YJ; Kim IO; Lee JS; Chae JH
Neuromuscul Disord; 2010 Aug; 20(8):524-30. PubMed ID: 20620061
[TBL] [Abstract][Full Text] [Related]
20. Defective glycosylation in muscular dystrophy.
Muntoni F; Brockington M; Blake DJ; Torelli S; Brown SC
Lancet; 2002 Nov; 360(9343):1419-21. PubMed ID: 12424008
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
