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Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D. Cross JH, et al. Among authors: ramesh v. Dev Med Child Neurol. 2013 Sep;55(9):846-56. doi: 10.1111/dmcn.12171. Dev Med Child Neurol. 2013. PMID: 23924083 Free PMC article.
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. McFarland R, et al. Among authors: ramesh v. Neurology. 2007 Aug 28;69(9):911-6. doi: 10.1212/01.wnl.0000267843.10977.4a. Neurology. 2007. PMID: 17724295
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: ramesh v. Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12. Brain. 2015. PMID: 25497598 Free PMC article.
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, Crow YJ. Ramesh V, et al. Dev Med Child Neurol. 2010 Aug;52(8):725-32. doi: 10.1111/j.1469-8749.2010.03727.x. Dev Med Child Neurol. 2010. PMID: 20653736 Free article.
1,084 results