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Results: 1 to 20 of 30

References for PMC Articles for PubMed (Select 19266496)

1.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

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.

Hum Mutat. 2008 Nov;29(11):E231-41. doi: 10.1002/humu.20844.

2.

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.

Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J.

Clin Genet. 2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x. Epub 2007 Dec 19.

PMID:
18177472
3.

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. Epub 2007 Sep 18.

4.

Molecular heterogeneity in fetal forms of type II lissencephaly.

Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N.

Hum Mutat. 2007 Oct;28(10):1020-7.

PMID:
17559086
5.

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.

Hum Genet. 2007 Jul;121(6):685-90. Epub 2007 Apr 14.

6.

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F.

Ann Neurol. 2006 Nov;60(5):603-10.

PMID:
17044012
7.

Walker-Warburg syndrome.

Vajsar J, Schachter H.

Orphanet J Rare Dis. 2006 Aug 3;1:29. Review.

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.

PMID:
16575835
9.

Dystroglycan: from biosynthesis to pathogenesis of human disease.

Barresi R, Campbell KP.

J Cell Sci. 2006 Jan 15;119(Pt 2):199-207. Review.

10.

Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations.

Watanabe M, Kobayashi K, Jin F, Park KS, Yamada T, Tokunaga K, Toda T.

Am J Med Genet A. 2005 Nov 1;138(4):344-8.

PMID:
16222679
11.

133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands.

Muntoni F, Voit T.

Neuromuscul Disord. 2005 Nov;15(11):794-801. Epub 2005 Sep 30. No abstract available.

PMID:
16199159
12.

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. Epub 2005 May 13.

13.

Glyc-O-genetics of Walker-Warburg syndrome.

van Reeuwijk J, Brunner HG, van Bokhoven H.

Clin Genet. 2005 Apr;67(4):281-9. Review.

PMID:
15733261
14.

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

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.

Am J Med Genet A. 2005 Feb 15;133A(1):53-7.

PMID:
15637732
15.

The congenital muscular dystrophies in 2004: a century of exciting progress.

Muntoni F, Voit T.

Neuromuscul Disord. 2004 Oct;14(10):635-49. Review.

PMID:
15351421
16.

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.

J Med Genet. 2004 May;41(5):e61. No abstract available.

17.

Defective glycosylation in congenital muscular dystrophies.

Muntoni F, Brockington M, Torelli S, Brown SC.

Curr Opin Neurol. 2004 Apr;17(2):205-9. Review.

PMID:
15021250
18.

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

de Bernabé 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.

J Med Genet. 2003 Nov;40(11):845-8. No abstract available.

19.

A new mutation of the fukutin gene in a non-Japanese patient.

Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, Cam M, Guven A, Fukuda Y, Kinoshita M, Kocabay K, Toda T.

Ann Neurol. 2003 Mar;53(3):392-6.

PMID:
12601708
20.

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.

Am J Hum Genet. 2002 Nov;71(5):1033-43. Epub 2002 Oct 4.

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