Walter MC - Search Results

1

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: walter mc. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.

2

Novel approaches to treat muscular dystrophies.

Walter MC, Lochmüller H. Walter MC, et al. Expert Opin Investig Drugs. 2001 Apr;10(4):695-707. doi: 10.1517/13543784.10.4.695. Expert Opin Investig Drugs. 2001. PMID: 11281819 Review.

3

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle.

Dunant P, Walter MC, Karpati G, Lochmüller H. Dunant P, et al. Among authors: walter mc. Muscle Nerve. 2003 May;27(5):624-7. doi: 10.1002/mus.10341. Muscle Nerve. 2003. PMID: 12707984

4

[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].

Horváth R, Walter MC, Lochmüller H, Hübner A, Karcagi V, Pikó H, Timár L, Komoly S. Horváth R, et al. Among authors: walter mc. Ideggyogy Sz. 2005 Jan 20;58(1-2):52-8. Ideggyogy Sz. 2005. PMID: 15884399 Hungarian.

5

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC. Müller JS, et al. Among authors: walter mc. Neuromuscul Disord. 2006 Jul;16(7):432-6. doi: 10.1016/j.nmd.2006.04.006. Epub 2006 May 26. Neuromuscul Disord. 2006. PMID: 16730439

6

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: walter mc. Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289. Epub 2008 Nov 16. Brain. 2009. PMID: 19015158

7

Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy.

Jørgensen LH, Larochelle N, Orlopp K, Dunant P, Dudley RW, Stucka R, Thirion C, Walter MC, Laval SH, Lochmüller H. Jørgensen LH, et al. Among authors: walter mc. Hum Gene Ther. 2009 Jun;20(6):641-50. doi: 10.1089/hum.2008.162. Hum Gene Ther. 2009. PMID: 19239382

8

Lower limb radiology of distal myopathy due to the S60F myotilin mutation.

McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmüller H, Chinnery PF. McNeill A, et al. Among authors: walter mc. Eur Neurol. 2009;62(3):161-6. doi: 10.1159/000227266. Epub 2009 Jul 3. Eur Neurol. 2009. PMID: 19590214 Free PMC article.

9

Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy.

Giacomotto J, Pertl C, Borrel C, Walter MC, Bulst S, Johnsen B, Baillie DL, Lochmüller H, Thirion C, Ségalat L. Giacomotto J, et al. Among authors: walter mc. Hum Mol Genet. 2009 Nov 1;18(21):4089-101. doi: 10.1093/hmg/ddp358. Epub 2009 Jul 31. Hum Mol Genet. 2009. PMID: 19648295

10

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: walter mc. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294. Brain. 2011. PMID: 21186264 Free PMC article.

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