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Items: 1 to 20 of 201

1.

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
2.

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.

3.

Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.

Akasaka-Manya K, Manya H, Endo T.

Biochem Biophys Res Commun. 2004 Dec 3;325(1):75-9.

PMID:
15522202
4.

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.

5.

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
6.

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.

Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N.

Mol Genet Metab. 2007 Jan;90(1):93-6. Epub 2006 Oct 31.

PMID:
17079174
7.

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I.

Neurology. 2004 Mar 23;62(6):1009-11.

PMID:
15037715
8.

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN.

Neuromuscul Disord. 2008 Aug;18(8):675-7. doi: 10.1016/j.nmd.2008.05.014. Epub 2008 Jul 18.

PMID:
18640039
9.

Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.

Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y.

Ann Neurol. 1995 Jan;37(1):99-101.

PMID:
7818265
10.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S.

Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6.

PMID:
20065251
11.

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E.

Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2.

PMID:
18513969
12.

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H.

Neuromuscul Disord. 2005 Apr;15(4):271-5.

PMID:
15792865
13.

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.

14.

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

Cormand B, Pihko H, Bayés 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.

Neurology. 2001 Apr 24;56(8):1059-69.

PMID:
11320179
15.

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

Yis U, Uyanik G, Kurul S, Dirik E, Ozer E, Gross C, Hehr U.

Eur J Paediatr Neurol. 2007 Jan;11(1):46-9. Epub 2006 Dec 11.

PMID:
17161965
16.

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

Willer T, Prados B, Falcón-Pérez JM, Renner-Müller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J.

Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14126-31. Epub 2004 Sep 21.

17.

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
18.

POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.

Lommel M, Willer T, Strahl S.

Glycobiology. 2008 Aug;18(8):615-25. doi: 10.1093/glycob/cwn042. Epub 2008 May 19.

19.

Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.

Yoshioka M.

Brain Dev. 2009 Jun;31(6):419-22. doi: 10.1016/j.braindev.2008.07.012. Epub 2008 Oct 2.

PMID:
18834683
20.

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
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