Laval SH - Search Results

1

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.

Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P. Durmus H, et al. Among authors: laval sh. Neurology. 2011 Jan 18;76(3):227-35. doi: 10.1212/WNL.0b013e318207b043. Neurology. 2011. PMID: 21242490

2

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. Hicks D, et al. Among authors: laval sh. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294. Brain. 2011. PMID: 21186264 Free PMC article.

3

Limb-girdle muscular dystrophies--from genetics to molecular pathology.

Laval SH, Bushby KM. Laval SH, et al. Neuropathol Appl Neurobiol. 2004 Apr;30(2):91-105. doi: 10.1111/j.1365-2990.2004.00555.x. Neuropathol Appl Neurobiol. 2004. PMID: 15043707 Review.

4

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM. Hicks D, et al. Among authors: laval sh. Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289. Epub 2008 Nov 16. Brain. 2009. PMID: 19015158

5

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Among authors: laval sh. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643

6

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V. Hicks D, et al. Hum Mol Genet. 2014 May 1;23(9):2353-63. doi: 10.1093/hmg/ddt637. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334769

7

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Lampe AK, et al. Among authors: laval sh. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090

8

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

O'Connor E, Töpf A, Müller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H. O'Connor E, et al. Among authors: laval sh. Brain. 2016 Aug;139(Pt 8):2143-53. doi: 10.1093/brain/aww130. Epub 2016 Jun 3. Brain. 2016. PMID: 27259756 Free PMC article.

9

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.

10

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.

Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, Bushby K. Chiu YH, et al. Among authors: laval sh. Hum Mol Genet. 2009 Jun 1;18(11):1976-89. doi: 10.1093/hmg/ddp121. Epub 2009 Mar 13. Hum Mol Genet. 2009. PMID: 19286669 Free PMC article.

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