| 1 | ISPD, TMEM5, WLKWS1, WLKWS2, WLKWS3, WLKWS4, WLKWS5, WLKWS7, WLKWS8
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| Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly.
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| Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N.
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| Am J Hum Genet 91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.
2012
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| 2 | POMGNT1, WLKWS4
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| Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
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| Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M.
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| J Neurol Sci 318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2.
2012
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| 3 | POMGNT1, WLKWS4
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| Reactive gliosis of astrocytes and Müller glial cells in retina of POMGnT1-deficient mice.
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| Takahashi H, Kanesaki H, Igarashi T, Kameya S, Yamaki K, Mizota A, Kudo A, Miyagoe-Suzuki Y, Takeda S, Takahashi H.
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| Mol Cell Neurosci 47(2):119-30. Epub 2011 Apr 8.
2011
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| 4 | POMGNT1, WLKWS4
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| Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
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| Voglmeir J, Kaloo S, Laurent N, Meloni MM, Bohlmann L, Wilson IB, Flitsch SL.
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| Biochem J 436(2):447-55.
2011
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| 5 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
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| Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.
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| Ann Neurol 64(5):573-82. 2008
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| 6 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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| Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.
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| Hum Mutat 29(11):E231-41. 2008
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| 7 | FCMD, FKRP, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Muscular dystrophies due to defective glycosylation of dystroglycan.
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| 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.
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| Acta Myol 26(3):129-35. Review. 2007
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| 8 | FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
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| Case 35-2006 -- A Newborn Boy with Hypotonia.
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| Brown RH Jr, Grant PE, Pierson CR.
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| N Engl J Med 355(20):2132-2142. No abstract available. 2006
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| 9 | POMGNT1, WLKWS4
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| POMGnT1 gene alterations in a family with neurological abnormalities.
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| Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK.
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| Ann Neurol 56(1):143-8. 2004
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| 10 | POMGNT1, WLKWS4
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| Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
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| Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T.
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| Biochem Biophys Res Commun 320(1):39-44. 2004
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| 11 | FKRP, WLKWS4, WLKWS5
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| Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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| Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F.
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| J Med Genet 41(5):e61. No abstract available. 2004
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| 12 | POMGNT1, WLKWS4
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| Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
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| Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.
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| Hum Mol Genet 12(5):527-34. 2003
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| 13 | POMGNT1, WLKWS4
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| Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
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| Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T.
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| Biochem Biophys Res Commun 306(1):93-7. 2003
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| 14 | POMGNT1, WLKWS4
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| Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
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| 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.
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| Nature 418(6896):417-22. 2002
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| 15 | DAG1, POMGNT1, WLKWS4
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| Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.
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| 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.
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| Nature 418(6896):422-5. 2002
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