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Results: 1 to 20 of 93

1.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC.

Hum Mol Genet. 2014 Jun 11. pii: ddu296. [Epub ahead of print]

PMID:
24925318
[PubMed - as supplied by publisher]
2.

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F.

Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.

PMID:
23288328
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.

von Renesse A, Petkova MV, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M.

J Med Genet. 2014 Apr;51(4):275-82. doi: 10.1136/jmedgenet-2013-102236. Epub 2014 Feb 20.

PMID:
24556084
[PubMed - in process]
4.

Muscular dystrophies due to glycosylation defects.

Muntoni F, Torelli S, Brockington M.

Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005. Review.

PMID:
19019316
[PubMed - indexed for MEDLINE]
5.

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
6.

[Recent Advances in α-dystroglycanopathy].

Kuga A, Kanagawa M, Toda T.

Brain Nerve. 2011 Nov;63(11):1189-95. Review. Japanese.

PMID:
22068471
[PubMed - indexed for MEDLINE]
7.

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
8.

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V.

Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078. Epub 2008 May 13.

PMID:
18477595
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

Godfrey C, Clement E, Abbs S, Muntoni F.

Muscle Nerve. 2011 Sep;44(3):388-92. doi: 10.1002/mus.22068.

PMID:
21996799
[PubMed - indexed for MEDLINE]
11.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.

PMID:
23453667
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.

Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe-Suzuki Y, Wang F, Fujikake N, Taniguchi M, Lu Z, Tachikawa M, Nagai Y, Tashiro F, Miyazaki J, Tajima Y, Takeda S, Endo T, Kobayashi K, Campbell KP, Toda T.

Hum Mol Genet. 2009 Feb 15;18(4):621-31. doi: 10.1093/hmg/ddn387. Epub 2008 Nov 18.

PMID:
19017726
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
14.

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.

Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE.

Neuromuscul Disord. 2009 May;19(5):352-6. doi: 10.1016/j.nmd.2009.03.001. Epub 2009 Apr 1.

PMID:
19342235
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The role of defective glycosylation in congenital muscular dystrophy.

Schachter H, Vajsar J, Zhang W.

Glycoconj J. 2004;20(5):291-300. Review.

PMID:
15229394
[PubMed - indexed for MEDLINE]
16.

[Congenital muscular dystrophy and alpha-dystroglycanopathy].

Saito F, Matsumura K, Hagiwara H, Shimizu T.

Rinsho Shinkeigaku. 2008 Aug;48(8):543-9. Review. Japanese.

PMID:
18939472
[PubMed - indexed for MEDLINE]
17.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H.

Hum Mol Genet. 2013 May 1;22(9):1746-54. doi: 10.1093/hmg/ddt021. Epub 2013 Jan 28.

PMID:
23359570
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.

Beedle AM, Turner AJ, Saito Y, Lueck JD, Foltz SJ, Fortunato MJ, Nienaber PM, Campbell KP.

J Clin Invest. 2012 Sep 4;122(9):3330-42. doi: 10.1172/JCI63004. Epub 2012 Aug 27.

PMID:
22922256
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies.

Endo T.

Acta Myol. 2005 Oct;24(2):64-9. Review.

PMID:
16550917
[PubMed - indexed for MEDLINE]

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