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5. 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]
6. 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]
7. Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. Muntoni F Neuromuscul Disord; 2005 Apr; 15(4):269-70. PubMed ID: 15792864 [No Abstract] [Full Text] [Related]
8. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. van Reeuwijk J; Maugenre S; van den Elzen C; Verrips A; Bertini E; Muntoni F; Merlini L; Scheffer H; Brunner HG; Guicheney P; van Bokhoven H Hum Mutat; 2006 May; 27(5):453-9. PubMed ID: 16575835 [TBL] [Abstract][Full Text] [Related]
9. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Vajsar J; Baskin B; Swoboda K; Biggar DW; Schachter H; Ray PN Neuromuscul Disord; 2008 Aug; 18(8):675-7. PubMed ID: 18640039 [TBL] [Abstract][Full Text] [Related]
10. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Geis T; Rödl T; Topaloğlu H; Balci-Hayta B; Hinreiner S; Müller-Felber W; Schoser B; Mehraein Y; Hübner A; Zirn B; Hoopmann M; Reutter H; Mowat D; Schuierer G; Schara U; Hehr U; Kölbel H Orphanet J Rare Dis; 2019 Jul; 14(1):179. PubMed ID: 31311558 [TBL] [Abstract][Full Text] [Related]
11. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. Akasaka-Manya K; Manya H; Endo T Biochem Biophys Res Commun; 2004 Dec; 325(1):75-9. PubMed ID: 15522202 [TBL] [Abstract][Full Text] [Related]
12. Glyc-O-genetics of Walker-Warburg syndrome. van Reeuwijk J; Brunner HG; van Bokhoven H Clin Genet; 2005 Apr; 67(4):281-9. PubMed ID: 15733261 [TBL] [Abstract][Full Text] [Related]
13. POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. Lommel M; Willer T; Strahl S Glycobiology; 2008 Aug; 18(8):615-25. PubMed ID: 18490429 [TBL] [Abstract][Full Text] [Related]
14. Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. Hu P; Wu S; Yuan L; Lin Q; Zheng W; Xia H; Xu H; Guan L; Deng H J Cell Mol Med; 2017 Jul; 21(7):1388-1393. PubMed ID: 28157257 [TBL] [Abstract][Full Text] [Related]
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16. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Godfrey C; Clement E; Mein R; Brockington M; Smith J; Talim B; Straub V; Robb S; Quinlivan R; Feng L; Jimenez-Mallebrera C; Mercuri E; Manzur AY; Kinali M; Torelli S; Brown SC; Sewry CA; Bushby K; Topaloglu H; North K; Abbs S; Muntoni F Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207 [TBL] [Abstract][Full Text] [Related]
17. Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. Yang H; Manya H; Kobayashi K; Jiao H; Fu X; Xiao J; Li X; Wang J; Jiang Y; Toda T; Endo T; Wu X; Xiong H J Hum Genet; 2016 Aug; 61(8):753-9. PubMed ID: 27193224 [TBL] [Abstract][Full Text] [Related]
18. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Willer T; Prados B; Falcón-Pérez JM; Renner-Müller I; Przemeck GK; Lommel M; Coloma A; Valero MC; de Angelis MH; Tanner W; Wolf E; Strahl S; Cruces J Proc Natl Acad Sci U S A; 2004 Sep; 101(39):14126-31. PubMed ID: 15383666 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. Yis U; Uyanik G; Kurul S; Dirik E; Ozer E; Gross C; Hehr U Eur J Paediatr Neurol; 2007 Jan; 11(1):46-9. PubMed ID: 17161965 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]