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Page 1
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloğlu H, Dinçer P, Campbell KP. Hara Y, et al. Among authors: beltran valero de bernabe d. N Engl J Med. 2011 Mar 10;364(10):939-46. doi: 10.1056/NEJMoa1006939. N Engl J Med. 2011. PMID: 21388311 Free PMC article.
Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer.
Esser AK, Miller MR, Huang Q, Meier MM, Beltran-Valero de Bernabé D, Stipp CS, Campbell KP, Lynch CF, Smith BJ, Cohen MB, Henry MD. Esser AK, et al. Among authors: beltran valero de bernabe d. J Biol Chem. 2013 Jan 25;288(4):2132-42. doi: 10.1074/jbc.M112.432807. Epub 2012 Dec 6. J Biol Chem. 2013. PMID: 23223448 Free PMC article.
Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.
Jiménez-Mallebrera C, Torelli S, Brown SC, Feng L, Brockington M, Sewry CA, Beltrán-Valero De Bernabé D, Muntoni F. Jiménez-Mallebrera C, et al. Among authors: beltran valero de bernabe d. Eur J Paediatr Neurol. 2003;7(3):129-37. doi: 10.1016/s1090-3798(03)00042-4. Eur J Paediatr Neurol. 2003. PMID: 12788039
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. van Reeuwijk J, et al. Among authors: beltran valero de bernabe d. J Med Genet. 2005 Dec;42(12):907-12. doi: 10.1136/jmg.2005.031963. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894594 Free PMC article.
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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. Beltran-Valero de Bernabé D, et al. J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870. J Med Genet. 2004. PMID: 15121789 Free PMC article. No abstract available.
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
van Reeuwijk J, Grewal PK, Salih MA, Beltrán-Valero de Bernabé D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T. van Reeuwijk J, et al. Among authors: beltran valero de bernabe d. Hum Genet. 2007 Jul;121(6):685-90. doi: 10.1007/s00439-007-0362-y. Epub 2007 Apr 14. Hum Genet. 2007. PMID: 17436019 Free PMC article.
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé 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. Beltrán-Valero de Bernabé D, et al. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.
18 results