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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. 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]
6. 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]
7. 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]
8. Dystroglycan glycosylation and muscular dystrophy. Moore CJ; Hewitt JE Glycoconj J; 2009 Apr; 26(3):349-57. PubMed ID: 18773291 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. The role of defective glycosylation in congenital muscular dystrophy. Schachter H; Vajsar J; Zhang W Glycoconj J; 2004; 20(5):291-300. PubMed ID: 15229394 [TBL] [Abstract][Full Text] [Related]
11. 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]
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. 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]
14. 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]
15. TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain. Munot P; McCrea N; Torelli S; Manzur A; Sewry C; Chambers D; Feng L; Ala P; Zaharieva I; Ragge N; Roper H; Marton T; Cox P; Milev MP; Liang WC; Maruyama S; Nishino I; Sacher M; Phadke R; Muntoni F Neuropathol Appl Neurobiol; 2022 Feb; 48(2):e12771. PubMed ID: 34648194 [TBL] [Abstract][Full Text] [Related]
16. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Jimenez-Mallebrera C; Torelli S; Feng L; Kim J; Godfrey C; Clement E; Mein R; Abbs S; Brown SC; Campbell KP; Kröger S; Talim B; Topaloglu H; Quinlivan R; Roper H; Childs AM; Kinali M; Sewry CA; Muntoni F Brain Pathol; 2009 Oct; 19(4):596-611. PubMed ID: 18691338 [TBL] [Abstract][Full Text] [Related]
17. Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation. Fagiolari G; Cappellini A; Cagliani R; Prelle A; Lucchini V; Fortunato F; Locatelli F; Crugnola V; Comi GP; Bresolin N; Moggio M; Lamperti C J Child Neurol; 2010 Mar; 25(3):312-20. PubMed ID: 19633331 [TBL] [Abstract][Full Text] [Related]
18. 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]