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Browsing publications by Dr Vankateswara Ramesh

Newcastle AuthorsTitleYearFull text
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.		Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251)2019
Dr Marion Mateos
Dr Nikhil Birdi
Dr Vankateswara Ramesh
Dr Anna Basu
Dr Srinivas Annavarapu
et al.		Neoplasia or Neonatal Alexander Disease?2019
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglarka Bansagi
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.		Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease2018
Dr Yi Ng
Dr Henriette van Ruiten
Dr Vankateswara Ramesh
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.		The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease2018
Dr David Lewis-Smith
Dr Vankateswara Ramesh
Professor Patrick Chinnery
Dr Anna Basu
Biotin-Thiamine-Responsive Basal Ganglia Disease: A Rare But Treatable Cause Of Severe Necrotising Encephalopathy2017
Dr Boglárka Bánsági
Dr Helen Griffin
Professor Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.		Genetic heterogeneity of motor neuropathies2017
Dr Vankateswara Ramesh
Mortality in Dravet syndrome2016
Dr David Lewis-Smith
Dr Anna Basu
Dr Vankateswara Ramesh
Professor Patrick Chinnery
Repeated dramatic reversal of thiamine-responsive necrotising encephalopathy due to SLC19A3 mutations emphasises the importance of considering vitamin-responsive pathologies in acute neurology2016
Dr Michael Keogh
Daniyal Daud
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
et al.		A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism2015
Dr Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.		Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Dr Boglarka Bansagi
Dr Helen Griffin
Dr Vankateswara Ramesh
Dr Jennifer Duff
Dr Angela Pyle
et al.		The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy2015
Dr John Furness
Dr Vankateswara Ramesh
A case of intermediate uveitis as a precursor to acute disseminated encephalomyelitis (ADEM) in a teenager2014
Professor Robert Taylor
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Dr Langping He
et al.		Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies2014
Dr Vankateswara Ramesh
Dr Mario Abinun
Patrick Mitchell
Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis2010
Dr Vankateswara Ramesh
Dr Grace Antony
Methods and applications of ROC curve in clinical trails2010
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