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Items: 1 to 20 of 168

1.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA.

Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2.

2.

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L.

Mol Genet Metab. 2013 Nov;110(3):345-51. doi: 10.1016/j.ymgme.2013.06.016. Epub 2013 Jun 28.

3.

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ.

Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632.

PMID:
23109149
4.
5.
6.

A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.

Dancourt J, Vuillaumier-Barrot S, de Baulny HO, Sfaello I, Barnier A, le Bizec C, Dupre T, Durand G, Seta N, Moore SE.

Pediatr Res. 2006 Jun;59(6):835-9. Epub 2006 Apr 26.

PMID:
16641202
7.

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, Nonaka I, Nakazawa T, Matsuo T, Futagami S, Campbell KP, Nishino I.

Neuromuscul Disord. 2005 May;15(5):342-8.

PMID:
15833426
8.

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.

Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T.

EMBO J. 2000 Jun 1;19(11):2475-82.

9.

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
10.

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

Toda T.

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

PMID:
16447766
11.

Abnormal glycosylation of dystroglycan in human genetic disease.

Hewitt JE.

Biochim Biophys Acta. 2009 Sep;1792(9):853-61. doi: 10.1016/j.bbadis.2009.06.003. Epub 2009 Jun 17. Review.

12.

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH.

J Clin Invest. 2000 Jan;105(2):191-8.

13.

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.

14.

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

Murakami T, Nishino I.

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

PMID:
18975603
15.

Fukutin and alpha-dystroglycanopathies.

Toda T, Chiyonobu T, Xiong H, Tachikawa M, Kobayashi K, Manya H, Takeda S, Taniguchi M, Kurahashi H, Endo T.

Acta Myol. 2005 Oct;24(2):60-3. Review.

PMID:
16550916
17.

Cloning and sequencing of the yeast gene for dolichol phosphate mannose synthase, an essential protein.

Orlean P, Albright C, Robbins PW.

J Biol Chem. 1988 Nov 25;263(33):17499-507.

18.

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.

19.

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
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
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