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Results: 9

1.

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA.

PLoS One. 2012;7(11):e48864. doi: 10.1371/journal.pone.0048864. Epub 2012 Nov 14.

PMID:
23155419
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

PMID:
18055494
[PubMed - indexed for MEDLINE]
Free Article
3.

Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.

Angelini C.

Acta Myol. 2004 Dec;23(3):130-6. Review.

PMID:
15938568
[PubMed - indexed for MEDLINE]
4.

The 10 autosomal recessive limb-girdle muscular dystrophies.

Zatz M, de Paula F, Starling A, Vainzof M.

Neuromuscul Disord. 2003 Sep;13(7-8):532-44. Review.

PMID:
12921790
[PubMed - indexed for MEDLINE]
5.

Update on the genetics of limb girdle muscular dystrophy.

Mitsuhashi S, Kang PB.

Semin Pediatr Neurol. 2012 Dec;19(4):211-8. doi: 10.1016/j.spen.2012.09.008. Review.

PMID:
23245554
[PubMed - indexed for MEDLINE]
6.

[Autosomal recessive limb-girdle muscular dystrophy].

Hernández-Caballero ME, Miranda-Duarte A, Escobar-Cedillo RE, Villegas-Castrejon H.

Rev Neurol. 2010 Oct 16;51(8):489-96. Review. Spanish.

PMID:
20925031
[PubMed - indexed for MEDLINE]
Free Article
7.

Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies.

Rocha CT, Hoffman EP.

Curr Neurol Neurosci Rep. 2010 Jul;10(4):267-76. doi: 10.1007/s11910-010-0119-1. Review.

PMID:
20467841
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Whole exome sequencing of intracranial aneurysm.

Foroud T; FIA Study Investigators.

Stroke. 2013 Jun;44(6 Suppl 1):S26-8. doi: 10.1161/STROKEAHA.113.001174. Review. No abstract available.

PMID:
23709719
[PubMed - indexed for MEDLINE]
Free Article
9.

Exome sequencing: how to understand it.

Keogh MJ, Daud D, Chinnery PF.

Pract Neurol. 2013 Dec;13(6):399-407. doi: 10.1136/practneurol-2012-000498. Epub 2013 Jun 1. Review. No abstract available.

PMID:
23727621
[PubMed - indexed for MEDLINE]

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