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Page 1
Optimization of Internally Deleted Dystrophin Constructs.
Hum Gene Ther Methods. 2016 Oct;27(5):174-186. doi: 10.1089/hgtb.2016.026. Epub 2016 Jul 31.
Hum Gene Ther Methods. 2016.
PMID: 27477497
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
Wood AJ, Müller JS, Jepson CD, Laval SH, Lochmüller H, Bushby K, Barresi R, Straub V.
Wood AJ, et al. Among authors: laval sh.
Hum Mol Genet. 2011 Dec 15;20(24):4879-90. doi: 10.1093/hmg/ddr426. Epub 2011 Sep 15.
Hum Mol Genet. 2011.
PMID: 21926082
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Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle.
Jørgensen LH, Blain A, Greally E, Laval SH, Blamire AM, Davison BJ, Brinkmeier H, MacGowan GA, Schrøder HD, Bushby K, Straub V, Lochmüller H.
Jørgensen LH, et al. Among authors: laval sh.
Am J Pathol. 2011 Jan;178(1):273-83. doi: 10.1016/j.ajpath.2010.11.027. Epub 2010 Dec 23.
Am J Pathol. 2011.
PMID: 21224064
Free PMC article.
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Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
Chen Q, Müller JS, Pang PC, Laval SH, Haslam SM, Lochmüller H, Dell A.
Chen Q, et al. Among authors: laval sh.
Biomolecules. 2015 Oct 16;5(4):2758-81. doi: 10.3390/biom5042758.
Biomolecules. 2015.
PMID: 26501342
Free PMC article.
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Confirmatory evidence for linkage of relative hand skill to 2p12-q11.
Francks C, DeLisi LE, Fisher SE, Laval SH, Rue JE, Stein JF, Monaco AP.
Francks C, et al. Among authors: laval sh.
Am J Hum Genet. 2003 Feb;72(2):499-502. doi: 10.1086/367548.
Am J Hum Genet. 2003.
PMID: 12596796
Free PMC article.
No abstract available.
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ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.
Sarkozy A, et al. Among authors: laval sh.
Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.
Hum Mutat. 2013.
PMID: 23606453
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