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

274 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: hadjivassiliou m. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ; UK and Irish HSP Consortium. McDermott CJ, et al. Among authors: hadjivassiliou m. Neurology. 2006 Jul 11;67(1):45-51. doi: 10.1212/01.wnl.0000223315.62404.00. Neurology. 2006. PMID: 16832076
SPG7 mutations are a common cause of undiagnosed ataxia.
Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Németh A, Chinnery PF. Pfeffer G, et al. Among authors: hadjivassiliou m. Neurology. 2015 Mar 17;84(11):1174-6. doi: 10.1212/WNL.0000000000001369. Epub 2015 Feb 13. Neurology. 2015. PMID: 25681447 Free PMC article. No abstract available.
Mitochondrial pathology in progressive cerebellar ataxia.
Bargiela D, Shanmugarajah P, Lo C, Blakely EL, Taylor RW, Horvath R, Wharton S, Chinnery PF, Hadjivassiliou M. Bargiela D, et al. Among authors: hadjivassiliou m. Cerebellum Ataxias. 2015 Dec 4;2:16. doi: 10.1186/s40673-015-0035-x. eCollection 2015. Cerebellum Ataxias. 2015. PMID: 26640698 Free PMC article.
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Among authors: hadjivassiliou m. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. Invest Ophthalmol Vis Sci. 2021. PMID: 33938912 Free PMC article.
Rapid identification of human muscle disease with fibre optic Raman spectroscopy.
Alix JJP, Plesia M, Lloyd GR, Dudgeon AP, Kendall CA, Hewamadduma C, Hadjivassiliou M, McDermott CJ, Gorman GS, Taylor RW, Shaw PJ, Day JCC. Alix JJP, et al. Among authors: hadjivassiliou m. Analyst. 2022 May 30;147(11):2533-2540. doi: 10.1039/d1an01932e. Analyst. 2022. PMID: 35545877 Free PMC article.
274 results