Bushby K - Search Results

1

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H. Thompson R, et al. Among authors: bushby k. J Gen Intern Med. 2014 Aug;29 Suppl 3(Suppl 3):S780-7. doi: 10.1007/s11606-014-2908-8. J Gen Intern Med. 2014. PMID: 25029978 Free PMC article. Review.

2

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: bushby k. Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078. Epub 2008 May 13. Brain. 2008. PMID: 18477595

3

Limb-girdle muscular dystrophies.

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

4

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: bushby k. 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.

5

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: bushby k. 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.

6

New aspects on patients affected by dysferlin deficient muscular dystrophy.

Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K. Klinge L, et al. Among authors: bushby k. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038. Epub 2009 Jun 14. J Neurol Neurosurg Psychiatry. 2010. PMID: 19528035 Free PMC article.

7

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: bushby k. 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

8

Interventions for muscular dystrophy: molecular medicines entering the clinic.

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

9

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: bushby k. 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

10

Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy.

Bauer R, Blain A, Greally E, Bushby K, Lochmüller H, Laval S, Straub V, MacGowan GA. Bauer R, et al. Among authors: bushby k. Eur J Heart Fail. 2010 Nov;12(11):1163-70. doi: 10.1093/eurjhf/hfq129. Epub 2010 Jul 30. Eur J Heart Fail. 2010. PMID: 20675662 Free article.

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