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Results: 1 to 20 of 123

1.

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Chang W, Winder TL, LeDuc CA, Simpson LL, Millar WS, Dungan J, Ginsberg N, Plaga S, Moore SA, Chung WK.

Prenat Diagn. 2009 Jun;29(6):560-9. doi: 10.1002/pd.2238. Erratum in: Prenat Diagn. 2012 Oct;32(10):1019.

PMID:
19266496
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.

Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18.

PMID:
20961758
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
17878207
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
18752264
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
15894594
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
12369018
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N.

Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005.

PMID:
19179078
[PubMed - indexed for MEDLINE]
9.

Walker-Warburg syndrome.

Vajsar J, Schachter H.

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

PMID:
16887026
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P.

Neurology. 2007 Sep 18;69(12):1254-60. Epub 2007 Jul 18.

PMID:
17634419
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.

Yamamoto T, Kato Y, Kawaguchi M, Shibata N, Kobayashi M.

Med Electron Microsc. 2004 Dec;37(4):200-7. Review.

PMID:
15614444
[PubMed - indexed for MEDLINE]
14.

[Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy].

Toda T.

Rinsho Shinkeigaku. 2005 Nov;45(11):932-4. Japanese.

PMID:
16447766
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

[Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin].

Toda T.

Rinsho Shinkeigaku. 2007 Nov;47(11):743-8. Japanese.

PMID:
18210789
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].

Murakami T, Nishino I.

Brain Nerve. 2008 Oct;60(10):1159-64. Review. Japanese.

PMID:
18975603
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.

Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K.

Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. Review.

PMID:
12893968
[PubMed - indexed for MEDLINE]
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