| 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 | POMT1, WLKWS1
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| POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
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| Judas M, Sedmak G, Rados M, Sarnavka V, Fumić K, Willer T, Gross C, Hehr U, Strahl S, Cuk M, Barić I.
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| Neuropediatrics 40(1):6-14. Epub 2009 Jul 28.
2009
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| 3 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | LGMD2K, WLKWS1, POMT1
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| The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
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| 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.
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| Hum Mutat 27(5):453-9. 2006
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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 | POMT1, WLKWS1
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| Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
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| Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.
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| Am J Med Genet A 133(1):53-7. 2005
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| 10 | WLKWS1, POMT1, FKTN, FCMD
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| Glyc-O-genetics of Walker-Warburg syndrome.
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| van Reeuwijk J, Brunner HG, van Bokhoven H.
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| Clin Genet 67(4):281-9. 2005
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| 11 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 12 | POMT1, POMT2, WLKWS1
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| Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
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| Akasaka-Manya K, Manya H, Endo T.
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| Biochem Biophys Res Commun 325(1):75-9. 2004
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| 13 | FCMD, WLKWS1, FKTN
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| A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
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| de Bernabe DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG.
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| J Med Genet 40(11):845-8. No abstract available. 2003
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| 14 | WLKWS1, POMT1
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| Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
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| Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltran-Valero de Barnabe D, van Bokoven H, Squarzoni S, Merlini L.
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| Biochim Biophys Acta 1638(1):57-62. 2003
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| 15 | POMT1, WLKWS1
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| Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome.
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| Beltran-Valero De Bernabe D, Currier S, Steinbrecher A, Celli J, Van Beusekom E, Van Der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, Van Bokhoven H, Brunner HG.
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| Am J Hum Genet 71(5):1033-43. 2002
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| 16 | WLKWS1, MEB, FCMD, FKTN
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| Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
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| Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE.
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| Neurology 56(8):1059-69. 2001
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| 17 | FCMD, WLKWS1, FKTN
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| Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.
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| Toda T, et al.
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| Ann Neurol 37 : 99-101. 1995
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| 18 | FCMD, LAMA2, WLKWS1, FKTN
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| Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.
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| Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsold R, Helliwell TR, Appleton R, et al.
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| Neuropediatrics 26(3):148-55. 1995
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| 19 | WLKWS1
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| Diagnostic criteria for Walker-Warburg syndrome.
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| Dobyns WB, et al.
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| Am J Med Genet 32 : 195-210. 1989
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