Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2,340 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: hwang e. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
5th Annual Dysferlin Conference 11-14 July 2011, Chicago, Illinois, USA.
Albrecht DE, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: hwang e. Neuromuscul Disord. 2012 May;22(5):471-7. doi: 10.1016/j.nmd.2011.10.014. Epub 2011 Dec 7. Neuromuscul Disord. 2012. PMID: 22153991 No abstract available.
3rd Annual Dysferlin Conference 2-5 June 2009, Boston, Massachusetts, USA.
Albrecht DE, Garg N, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: hwang e. Neuromuscul Disord. 2009 Dec;19(12):867-73. doi: 10.1016/j.nmd.2009.08.005. Epub 2009 Sep 24. Neuromuscul Disord. 2009. PMID: 19781937 No abstract available.
4th Annual Dysferlin Conference 11-14 September 2010, Washington, USA.
Albrecht DE, Garg N, Rufibach LE, Williams BA, Monnier N, Hwang E, Mittal P. Albrecht DE, et al. Among authors: hwang e. Neuromuscul Disord. 2011 Apr;21(4):304-10. doi: 10.1016/j.nmd.2011.02.001. Epub 2011 Feb 19. Neuromuscul Disord. 2011. PMID: 21339068 No abstract available.
6th Dysferlin Conference, 3-6 April 2013, Arlington, Virginia, USA.
Albrecht DE, Rufibach LE, Williams BA, Lee ER, Windish HP, Hwang EY, Shira SR, Mittal P. Albrecht DE, et al. Among authors: hwang ey. Neuromuscul Disord. 2014 Mar;24(3):277-87. doi: 10.1016/j.nmd.2013.11.008. Epub 2013 Nov 23. Neuromuscul Disord. 2014. PMID: 24480524
2,340 results