{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:41:04Z","timestamp":1791099664709,"version":"4.1.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"3-4","license":[{"start":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T00:00:00Z","timestamp":1379635200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1007\/s10048-013-0374-9","type":"journal-article","created":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T06:54:32Z","timestamp":1379573672000},"page":"205-213","source":"Crossref","is-referenced-by-count":77,"title":["Homozygous dystroglycan mutation associated with a novel muscle\u2013eye\u2013brain disease-like phenotype with multicystic leucodystrophy"],"prefix":"10.1007","volume":"14","author":[{"given":"Tobias","family":"Geis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Marquard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"R\u00f6dl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christof","family":"Reihle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Schirmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thekla","family":"von Kalle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antje","family":"Bornemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Hehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Blankenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,9,20]]},"reference":[{"issue":"Pt 2","key":"374_CR1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1242\/jcs.02814","volume":"119","author":"R Barresi","year":"2006","unstructured":"Barresi R, Campbell KP (2006) Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 119(Pt 2):199\u2013207","journal-title":"J Cell Sci"},{"issue":"5","key":"374_CR2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1097\/WCO.0b013e32834a95e3","volume":"24","author":"F Muntoni","year":"2011","unstructured":"Muntoni F, Torelli S, Wells DJ, Brown SC (2011) Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 24(5):437\u201342","journal-title":"Curr Opin Neurol"},{"issue":"Pt 10","key":"374_CR3","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1093\/brain\/awm212","volume":"130","author":"C Godfrey","year":"2007","unstructured":"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 (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130(Pt 10):2725\u201335","journal-title":"Brain"},{"issue":"8","key":"374_CR4","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1212\/WNL.56.8.1059","volume":"56","author":"B Cormand","year":"2001","unstructured":"Cormand B, Pihko H, Bay\u00e9s 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 (2001) Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 56(8):1059\u201369","journal-title":"Neurology"},{"issue":"10","key":"374_CR5","doi-asserted-by":"crossref","first-page":"6930","DOI":"10.1074\/jbc.R112.438978","volume":"288","author":"L Wells","year":"2013","unstructured":"Wells L (2013) The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem 288(10):6930\u20135","journal-title":"J Biol Chem"},{"issue":"9","key":"374_CR6","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1093\/hmg\/ddt021","volume":"22","author":"K Buysse","year":"2013","unstructured":"Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H (2013) Missense mutations in \u03b2-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 22(9):1746\u201354","journal-title":"Hum Mol Genet"},{"issue":"5","key":"374_CR7","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/ng.2253","volume":"44","author":"T Roscioli","year":"2012","unstructured":"Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delr\u00e9e P, Willemsen MA, Ramad\u017ea DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of \u03b1-dystroglycan. Nat Genet 44(5):581\u20135","journal-title":"Nat Genet"},{"issue":"5","key":"374_CR8","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/ng.2252","volume":"44","author":"T Willer","year":"2012","unstructured":"Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP (2012) ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 44(5):575\u201380","journal-title":"Nat Genet"},{"issue":"3","key":"374_CR9","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.ajhg.2012.07.009","volume":"91","author":"MC Manzini","year":"2012","unstructured":"Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA (2012) Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 91(3):541\u20137","journal-title":"Am J Hum Genet"},{"issue":"3","key":"374_CR10","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajhg.2013.01.016","volume":"92","author":"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; UK10K Consortium, Stemple D, Lin YY, Muntoni F","year":"2013","unstructured":"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; UK10K Consortium, Stemple D, Lin YY, Muntoni F (2013) Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of \u03b1-dystroglycan. Am J Hum Genet 92(3):354\u201365","journal-title":"Am J Hum Genet"},{"issue":"6131","key":"374_CR11","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1126\/science.1233675","volume":"340","author":"LT Jae","year":"2013","unstructured":"Jae LT, Raaben M, Riemersma M, van Beusekom E, Blomen VA, Velds A, Kerkhoven RM, Carette JE, Topaloglu H, Meinecke P, Wessels MW, Lefeber DJ, Whelan SP, van Bokhoven H, Brummelkamp TR (2013) Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science 340(6131):479\u201383","journal-title":"Science"},{"issue":"10","key":"374_CR12","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1056\/NEJMoa1006939","volume":"364","author":"Y Hara","year":"2011","unstructured":"Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltr\u00e1n-Valero de Bernab\u00e9 D, G\u00fcnde\u015fli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topalo\u011flu H, Din\u00e7er P, Campbell KP (2011) A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 364(10):939\u201346","journal-title":"N Engl J Med"},{"issue":"43","key":"374_CR13","doi-asserted-by":"crossref","first-page":"25956","DOI":"10.1074\/jbc.270.43.25956","volume":"270","author":"KA Deyst","year":"1995","unstructured":"Deyst KA, Bowe MA, Leszyk JD, Fallon JR (1995) The alpha-dystroglycan-beta-dystroglycan complex. Membrane organization and relationship to an agrin receptor. J Biol Chem 270(43):25956\u20139","journal-title":"J Biol Chem"},{"issue":"4","key":"374_CR14","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s10048-007-0096-y","volume":"8","author":"U Hehr","year":"2007","unstructured":"Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochm\u00fcller H, Winkler J (2007) Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics 8(4):279\u201388","journal-title":"Neurogenetics"},{"issue":"7","key":"374_CR15","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1038\/ejhg.2010.28","volume":"18","author":"AR Frost","year":"2010","unstructured":"Frost AR, B\u00f6hm SV, Sewduth RN, Josifova D, Ogilvie CM, Izatt L, Roberts RG (2010) Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities. Eur J Hum Genet 18(7):852\u20135","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"374_CR16","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1093\/hmg\/6.6.831","volume":"6","author":"RA Williamson","year":"1997","unstructured":"Williamson RA, Henry MD, Daniels KJ, Hrstka RF, Lee JC, Sunada Y, Ibraghimov-Beskrovnaya O, Campbell KP (1997) Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum Mol Genet 6(6):831\u201341","journal-title":"Hum Mol Genet"},{"issue":"6896","key":"374_CR17","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/nature00838","volume":"418","author":"SA Moore","year":"2002","unstructured":"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 (2002) Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418(6896):422\u20135","journal-title":"Nature"},{"issue":"43","key":"374_CR18","doi-asserted-by":"crossref","first-page":"14560","DOI":"10.1523\/JNEUROSCI.3247-10.2010","volume":"30","author":"JS Satz","year":"2010","unstructured":"Satz JS, Ostendorf AP, Hou S, Turner A, Kusano H, Lee JC, Turk R, Nguyen H, Ross-Barta SE, Westra S, Hoshi T, Moore SA, Campbell KP (2010) Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain. J Neurosci 30(43):14560\u201372","journal-title":"J Neurosci"},{"issue":"17","key":"374_CR19","doi-asserted-by":"crossref","first-page":"4933","DOI":"10.1111\/j.1742-4658.2009.07196.x","volume":"276","author":"F Sciandra","year":"2009","unstructured":"Sciandra F, Bozzi M, Morlacchi S, Galtieri A, Giardina B, Brancaccio A (2009) Mutagenesis at the alpha-beta interface impairs the cleavage of the dystroglycan precursor. FEBS J 276(17):4933\u201345","journal-title":"FEBS J"},{"issue":"9","key":"374_CR20","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1093\/hmg\/ddr047","volume":"20","author":"V Gupta","year":"2011","unstructured":"Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH (2011) The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet 20(9):1712\u201325","journal-title":"Hum Mol Genet"},{"issue":"5","key":"374_CR21","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0896-6273(03)00301-5","volume":"38","author":"F Saito","year":"2003","unstructured":"Saito F, Moore SA, Barresi R, Henry MD, Messing A, Ross-Barta SE, Cohn RD, Williamson RA, Sluka KA, Sherman DL, Brophy PJ, Schmelzer JD, Low PA, Wrabetz L, Feltri ML, Campbell KP (2003) Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization. Neuron 38(5):747\u201358","journal-title":"Neuron"},{"issue":"5","key":"374_CR22","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ana.21482","volume":"64","author":"E Clement","year":"2008","unstructured":"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 (2008) Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 64(5):573\u201382","journal-title":"Ann Neurol"},{"issue":"11","key":"374_CR23","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S1474-4422(12)70192-8","volume":"11","author":"MS Knaap van der","year":"2012","unstructured":"van der Knaap MS, Boor I, Est\u00e9vez R (2012) Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol 11(11):973\u201385","journal-title":"Lancet Neurol"},{"issue":"4","key":"374_CR24","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1007\/s00401-007-0247-0","volume":"114","author":"I Boor","year":"2007","unstructured":"Boor I, Nagtegaal M, Kamphorst W, van der Valk P, Pronk JC, van Horssen J, Dinopoulos A, Bove KE, Pascual-Castroviejo I, Muntoni F, Est\u00e9vez R, Scheper GC, van der Knaap MS (2007) MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol 114(4):403\u201310","journal-title":"Acta Neuropathol"},{"issue":"2","key":"374_CR25","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng1095-216","volume":"11","author":"A Helbling-Leclerc","year":"1995","unstructured":"Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tom\u00e9 FM, Schwartz K, Fardeau M, Tryggvason K et al (1995) Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11(2):216\u20138","journal-title":"Nat Genet"},{"issue":"5","key":"374_CR26","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/mus.22132","volume":"44","author":"BF Gavassini","year":"2011","unstructured":"Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E (2011) Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve 44(5):703\u20139","journal-title":"Muscle Nerve"},{"issue":"4","key":"374_CR27","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.nmd.2010.02.001","volume":"20","author":"F Geranmayeh","year":"2010","unstructured":"Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa CD, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F (2010) Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 20(4):241\u201350","journal-title":"Neuromuscul Disord"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-013-0374-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-013-0374-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-013-0374-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:01:04Z","timestamp":1559116864000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-013-0374-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,20]]},"references-count":27,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["374"],"URL":"https:\/\/doi.org\/10.1007\/s10048-013-0374-9","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,20]]}}}