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Results: 1 to 20 of 103

1.

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

Kava M, Chitayat D, Blaser S, Ray PN, Vajsar J.

Pediatr Neurol. 2013 Nov;49(5):374-8. doi: 10.1016/j.pediatrneurol.2013.06.022.

PMID:
24139536
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Chan YM, Keramaris-Vrantsis E, Lidov HG, Norton JH, Zinchenko N, Gruber HE, Thresher R, Blake DJ, Ashar J, Rosenfeld J, Lu QL.

Hum Mol Genet. 2010 Oct 15;19(20):3995-4006. doi: 10.1093/hmg/ddq314. Epub 2010 Jul 30.

PMID:
20675713
[PubMed - indexed for MEDLINE]
Free Article
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.

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]
6.

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, Rutherford M, Talim B, Ricci E, Voit T, Muntoni F.

Arch Neurol. 2006 Feb;63(2):251-7.

PMID:
16476814
[PubMed - indexed for MEDLINE]
7.

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.

Arch Neurol. 2005 Dec;62(12):1894-9.

PMID:
16344347
[PubMed - indexed for MEDLINE]
8.

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.

Ackroyd MR, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy RJ, Muntoni F, Brown SC.

Brain. 2009 Feb;132(Pt 2):439-51. doi: 10.1093/brain/awn335. Epub 2009 Jan 20.

PMID:
19155270
[PubMed - indexed for MEDLINE]
Free Article
9.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F.

Hum Mol Genet. 2001 Dec 1;10(25):2851-9.

PMID:
11741828
[PubMed - indexed for MEDLINE]
Free Article
10.

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

Blaeser A, Keramaris E, Chan YM, Sparks S, Cowley D, Xiao X, Lu QL.

Hum Genet. 2013 Aug;132(8):923-34. doi: 10.1007/s00439-013-1302-7. Epub 2013 Apr 17.

PMID:
23591631
[PubMed - indexed for MEDLINE]
11.

Functional requirements for fukutin-related protein in the Golgi apparatus.

Esapa CT, Benson MA, Schröder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kröger S, Blake DJ.

Hum Mol Genet. 2002 Dec 15;11(26):3319-31.

PMID:
12471058
[PubMed - indexed for MEDLINE]
Free Article
12.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.

Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.

PMID:
11592034
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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]
14.

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

Bourteel H, Vermersch P, Cuisset JM, Maurage CA, Laforet P, Richard P, Stojkovic T.

J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1405-8. doi: 10.1136/jnnp.2007.141804.

PMID:
19917824
[PubMed - indexed for MEDLINE]
15.

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.

Hum Mol Genet. 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9.

PMID:
12966029
[PubMed - indexed for MEDLINE]
Free Article
16.

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]
17.

Mutations alter secretion of fukutin-related protein.

Lu PJ, Zillmer A, Wu X, Lochmuller H, Vachris J, Blake D, Chan YM, Lu QL.

Biochim Biophys Acta. 2010 Feb;1802(2):253-8. doi: 10.1016/j.bbadis.2009.10.016. Epub 2009 Nov 10.

PMID:
19900540
[PubMed - indexed for MEDLINE]
Free Article
18.

Zebrafish models for human FKRP muscular dystrophies.

Kawahara G, Guyon JR, Nakamura Y, Kunkel LM.

Hum Mol Genet. 2010 Feb 15;19(4):623-33. doi: 10.1093/hmg/ddp528. Epub 2009 Dec 1.

PMID:
19955119
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.

Trovato R, Astrea G, Bartalena L, Ghirri P, Baldacci J, Giampietri M, Battini R, Santorelli FM, Fiorillo C.

J Child Neurol. 2014 Mar;29(3):394-8. doi: 10.1177/0883073812474951. Epub 2013 Feb 17.

PMID:
23420653
[PubMed - in process]
20.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F.

Neurology. 2003 Mar 25;60(6):988-92.

PMID:
12654965
[PubMed - indexed for MEDLINE]

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