Lochmüller H - Search Results

1

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: lochmuller h. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.

2

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.

Norwood F, de Visser M, Eymard B, Lochmüller H, Bushby K; EFNS Guideline Task Force. Norwood F, et al. Among authors: lochmuller h. Eur J Neurol. 2007 Dec;14(12):1305-12. doi: 10.1111/j.1468-1331.2007.01979.x. Eur J Neurol. 2007. PMID: 18028188 Review.

3

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V. Thornhill P, et al. Among authors: lochmuller h. Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078. Epub 2008 May 13. Brain. 2008. PMID: 18477595

4

Limb-girdle muscular dystrophies.

Guglieri M, Straub V, Bushby K, Lochmüller H. Guglieri M, et al. Among authors: lochmuller h. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Curr Opin Neurol. 2008. PMID: 18769252 Review.

5

157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.

Sárközy A, Bushby K, Béroud C, Lochmüller H. Sárközy A, et al. Among authors: lochmuller h. Neuromuscul Disord. 2008 Dec;18(12):997-1001. doi: 10.1016/j.nmd.2008.07.006. Epub 2008 Oct 22. Neuromuscul Disord. 2008. PMID: 18948006 No abstract available.

6

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Laing NG, et al. Among authors: lochmuller h. Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. Hum Mutat. 2009. PMID: 19562689 Free PMC article.

7

Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.

Thompson R, Schoser B, Monckton DG, Blonsky K, Lochmüller H. Thompson R, et al. Among authors: lochmuller h. Neuromuscul Disord. 2009 Dec;19(12):860-6. doi: 10.1016/j.nmd.2009.08.009. Epub 2009 Oct 20. Neuromuscul Disord. 2009. PMID: 19846307 No abstract available.

8

Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism.

Bauer R, Blain A, Greally E, Lochmüller H, Bushby K, MacGowan GA, Straub V. Bauer R, et al. Among authors: lochmuller h. Neuromuscul Disord. 2010 Jan;20(1):21-8. doi: 10.1016/j.nmd.2009.10.003. Epub 2009 Nov 12. Neuromuscul Disord. 2010. PMID: 19913415

9

Interventions for muscular dystrophy: molecular medicines entering the clinic.

Bushby K, Lochmüller H, Lynn S, Straub V. Bushby K, et al. Among authors: lochmuller h. Lancet. 2009 Nov 28;374(9704):1849-56. doi: 10.1016/S0140-6736(09)61834-1. Lancet. 2009. PMID: 19944865 Review.

10

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H. Müller JS, et al. Among authors: lochmuller h. Hum Mol Genet. 2010 May 1;19(9):1726-40. doi: 10.1093/hmg/ddq049. Epub 2010 Feb 10. Hum Mol Genet. 2010. PMID: 20147321

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