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Results: 1 to 20 of 114

1.

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]
2.

[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]
3.

[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]
4.

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
[PubMed - indexed for MEDLINE]
5.

Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.

Yoshioka M, Toda T, Kuroki S, Hamano K.

J Child Neurol. 1999 Nov;14(11):711-5. Review.

PMID:
10593547
[PubMed - indexed for MEDLINE]
6.

Journey into muscular dystrophies caused by abnormal glycosylation.

Muntoni F.

Acta Myol. 2004 Sep;23(2):79-84. Review.

PMID:
15605948
[PubMed - indexed for MEDLINE]
7.

Muscular dystrophies due to defective glycosylation of dystroglycan.

Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC.

Acta Myol. 2007 Dec;26(3):129-35. Review.

PMID:
18646561
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
9.

[Recent advances in congenital muscular dystrophy research].

Nonaka I.

No To Hattatsu. 2005 Mar;37(2):115-21. Review. Japanese.

PMID:
15773323
[PubMed - indexed for MEDLINE]
10.

Congenital muscular dystrophies: 1997 update.

Voit T.

Brain Dev. 1998 Mar;20(2):65-74. Review.

PMID:
9545174
[PubMed - indexed for MEDLINE]
11.

Glycosylation defects: a new mechanism for muscular dystrophy?

Grewal PK, Hewitt JE.

Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R259-64. Epub 2003 Aug 12. Review.

PMID:
12925572
[PubMed - indexed for MEDLINE]
Free Article
12.

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.

Reed UC.

Arq Neuropsiquiatr. 2009 Mar;67(1):144-68. Review.

PMID:
19330236
[PubMed - indexed for MEDLINE]
Free Article
13.

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]
14.

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB.

Neuromuscul Disord. 2011 Jun;21(6):433-8. doi: 10.1016/j.nmd.2011.03.005. Epub 2011 May 6. Review.

PMID:
21530252
[PubMed - indexed for MEDLINE]
15.

Merosin and congenital muscular dystrophy.

Miyagoe-Suzuki Y, Nakagawa M, Takeda S.

Microsc Res Tech. 2000 Feb 1-15;48(3-4):181-91. Review.

PMID:
10679965
[PubMed - indexed for MEDLINE]
16.

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]
17.

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]
18.

Glycosylation defects in inherited muscle disease.

Hewitt JE, Grewal PK.

Cell Mol Life Sci. 2003 Feb;60(2):251-8. Review.

PMID:
12678490
[PubMed - indexed for MEDLINE]
19.

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.

Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.

J Med Genet. 2001 Oct;38(10):649-57. Review.

PMID:
11584042
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Fukuyama-type congenital muscular dystrophy with the presence of ocular anomalies].

Castellacci AM, Gualtierotti R, Santillo G, Simoni F, Pieroni O, Pazzaglia R.

Pediatr Med Chir. 1992 Mar-Apr;14(2):223-6. Review. Italian.

PMID:
1508760
[PubMed - indexed for MEDLINE]

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