PMC Links for GEO Profiles (Select 23716110) - PMC

Select item 44297331.

Muscle and Heart Function Restoration in a Limb Girdle Muscular Dystrophy 2I (LGMD2I) Mouse Model by Systemic FKRP Gene Delivery

Chunping Qiao, Chi-Hsien Wang, Chunxia Zhao, Peijuan Lu, Hiroyuki Awano, Bin Xiao, Jianbin Li, Zhenhua Yuan, Yi Dai, Carrie Bette Martin, Juan Li, Qilong Lu, Xiao Xiao

Mol Ther. 2014 Nov; 22(11): 1890–1899. Prepublished online 2014 Jul 22. Published online 2014 Aug 19. doi: 10.1038/mt.2014.141

PMCID:: PMC4429733

Abstract Article PDF–2.5M

Select item 42270502.

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

Tobias Willer, Kei-ichiro Inamori, David Venzke, Corinne Harvey, Greg Morgensen, Yuji Hara, Daniel Beltrán Valero de Bernabé, Liping Yu, Kevin M Wright, Kevin P Campbell

eLife. 2014; 3: e03941. Published online 2014 Oct 3. doi: 10.7554/eLife.03941

PMCID:: PMC4227050

Abstract Article PDF–2.3M

Select item 31780593.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 30699254.

Post-Natal Knockdown of Fukutin-Related Protein Expression in Muscle by Long-Term RNA Interference Induces Dystrophic Pathology

Chi-Hsien Wang, Yiumo Michael Chan, Ru-Hang Tang, Bin Xiao, Peijuan Lu, Elizabeth Keramaris-Vrantsis, Hui Zheng, Chunping Qiao, Jiangang Jiang, Juan Li, Hsin-I. Ma, Qilong Lu, Xiao Xiao

Am J Pathol. 2011 Jan; 178(1): 261–272. doi: 10.1016/j.ajpath.2010.11.020

Correction in:: Am J Pathol. 2011 Mar; 178(3): 1406.

PMCID:: PMC3069925

Abstract Article PDF–4.5M

Select item 22446475.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

Neurogenetics. Author manuscript; available in PMC 2008 Feb 20.

Published in final edited form as: Neurogenetics. 2004 Feb; 5(1): 27–34. Published online 2003 Dec 2. doi: 10.1007/s10048-003-0165-9

PMCID:: PMC2244647

Abstract Article

Select item 12355596.

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni

Am J Hum Genet. 2001 Dec; 69(6): 1198–1209. Published online 2001 Oct 8. doi: 10.1086/324412

PMCID:: PMC1235559

Abstract Article PDF–1.0M

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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