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

32 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Exome sequencing in dementia with Lewy bodies.
Keogh MJ, Kurzawa-Akanbi M, Griffin H, Douroudis K, Ayers KL, Hussein RI, Hudson G, Pyle A, Cordell HJ, Attems J, McKeith IG, O'Brien JT, Burn DJ, Morris CM, Thomas AJ, Chinnery PF. Keogh MJ, et al. Among authors: douroudis k. Transl Psychiatry. 2016 Feb 2;6(2):e728. doi: 10.1038/tp.2015.220. Transl Psychiatry. 2016. PMID: 26836416 Free PMC article.
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF. Keogh MJ, et al. Among authors: douroudis k. J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x. Epub 2015 May 16. J Neurol. 2015. PMID: 25976027 Free PMC article.
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Pyle A, et al. Among authors: douroudis k. Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12. Brain. 2015. PMID: 25497598 Free PMC article.
Phenotypic variability of TRPV4 related neuropathies.
Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R. Evangelista T, et al. Among authors: douroudis k. Neuromuscul Disord. 2015 Jun;25(6):516-21. doi: 10.1016/j.nmd.2015.03.007. Epub 2015 Mar 18. Neuromuscul Disord. 2015. PMID: 25900305 Free PMC article.
SCP2 mutations and neurodegeneration with brain iron accumulation.
Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF. Horvath R, et al. Among authors: douroudis k. Neurology. 2015 Nov 24;85(21):1909-11. doi: 10.1212/WNL.0000000000002157. Epub 2015 Oct 23. Neurology. 2015. PMID: 26497993 Free PMC article. No abstract available.
Respiratory chain deficiency in nonmitochondrial disease.
Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Pyle A, et al. Among authors: douroudis k. Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066545 Free PMC article.
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R. Pyle A, et al. Among authors: douroudis k. J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003. J Neuromuscul Dis. 2014. PMID: 26380172 Free PMC article.
Differences in Clinical Features and Comorbid Burden between HLA-C∗06:02 Carrier Groups in >9,000 People with Psoriasis.
Douroudis K, Ramessur R, Barbosa IA, Baudry D, Duckworth M, Angit C, Capon F, Chung R, Curtis CJ, Di Meglio P, Goulding JMR, Griffiths CEM, Lee SH, Mahil SK, Parslew R, Reynolds NJ, Shipman AR, Warren RB, Yiu ZZN, Simpson MA, Barker JN, Dand N, Smith CH; BADBIR; BSTOP Study Groups. Douroudis K, et al. J Invest Dermatol. 2022 Jun;142(6):1617-1628.e10. doi: 10.1016/j.jid.2021.08.446. Epub 2021 Nov 10. J Invest Dermatol. 2022. PMID: 34767815 Free article.
32 results