Publications by Dr Vankateswara Ramesh - ePrints

Browsing publications by Dr Vankateswara Ramesh.

Newcastle Authors	Title	Year
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 disease	2018
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 disease	2018
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 Encephalopathy	2017
Dr Boglárka Bánsági Dr Helen Griffin Professor Roger Whittaker Dr Teresinha Evangelista Dr James Miller et al.	Genetic heterogeneity of motor neuropathies	2017
Dr Vankateswara Ramesh	Mortality in Dravet syndrome	2016
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 neurology	2016
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 parkinsonism	2015
Dr Angela Pyle Tania Smertenko Dr David Bargiela Dr Helen Griffin Dr Jennifer Duff et al.	Exome sequencing in undiagnosed inherited and sporadic ataxias	2015
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 atrophy	2015
Dr John Furness Dr Vankateswara Ramesh	A case of intermediate uveitis as a precursor to acute disseminated encephalomyelitis (ADEM) in a teenager	2014
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 Deficiencies	2014
Dr Vankateswara Ramesh Dr Mario Abinun Patrick Mitchell	Intracerebral large artery disease in Aicardi-Goutieres syndrome implicates SAMHD1 in vascular homeostasis	2010
Dr Vankateswara Ramesh Dr Grace Antony	Methods and applications of ROC curve in clinical trails	2010
Dr Mario Abinun Dr Rob Forsyth Dr Vankateswara Ramesh	Treatment of primary angiitis of the central nervous system in childhood with mycophenolate mofetil	2010
Professor Dorothy Newbury-Birch Dr Eilish Gilvarry Dr Paul McArdle Dr Vankateswara Ramesh Dr Stephen Stewart et al.	Impact of alcohol consumption on young people: A systematic review of published reviews	2009
Professor Bobby McFarland Professor Gavin Hudson Professor Robert Taylor Dr Stephen Hodges Professor Patrick Chinnery et al.	Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)	2008
Professor Bobby McFarland Professor Patrick Chinnery Dr Andrew Schaefer Dr Andrew Morris Sharon Foster et al.	Homoplasmy, heteroplasmy, and mitochondrial dystonia	2007
Professor Mary Slatter Dr Vankateswara Ramesh Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Outcome of hematopoietic stem cell transplantation in severe combined immune deficiency with central nervous system viral infection	2007
Professor Patrick Chinnery Professor Gavin Hudson Professor Robert Taylor Emeritus Professor Doug Turnbull Dr Vankateswara Ramesh et al.	When and how should neurologists test for mutations in POLG?	2007
Dr Vankateswara Ramesh Dr Anil Gholkar OBE Professor David Ellison	Alexander disease - Ventricular garlands and abnormalities of the medulla and spinal cord	2006
Professor Rita Horvath Professor Gavin Hudson Professor Hanns Lochmuller Professor Bobby McFarland Dr Vankateswara Ramesh et al.	Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene	2006
Dr Vankateswara Ramesh	Non-epileptic attacks after successful epilepsy surgery	2005
Professor Mary Slatter Dr Vankateswara Ramesh Dr Terence Flood Dr Mario Abinun Professor Andrew Cant et al.	Outcome of bone marrow transplantation in severe combined immunodeficiency with central nervous system viral infection	2005
Dr Anita Devlin Dr Anil Gholkar OBE Helen Fernandes Dr Vankateswara Ramesh Dr Andrew Morris et al.	Cerebral edema associated with betaine treatment in classical homocystinuria	2004
Professor Patrick Chinnery Sharon Foster Dr Vankateswara Ramesh	Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene	2004
Dr Suzy Leech Dr Aileen Taylor Dr Vankateswara Ramesh Dr Daniel Birchall Dr Sally Lynch et al.	Widespread capillary malformation associated with global developmental delay and megalencephaly	2004
Dr Sally Lynch Dr Vankateswara Ramesh Professor Sunil Sinha	Male neonatal encephalopathy and the MECP2 gene	2003
Dr Vankateswara Ramesh Dr Daniel Birchall	Serial MRI in a case of familial hemiplegic migraine	2003
Dr Vankateswara Ramesh Professor Sunil Sinha	Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2	2003
Dr Vankateswara Ramesh Professor Michael Hanna	Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel	2001
Dr Vankateswara Ramesh Dr Anil Gholkar OBE Dr Paul Griffiths	Tethering of the vertebral artery in the congenital arcuate foramen of the atlas vertebra: a possible cause of vertebral artery dissection in children	2001
Dr Vankateswara Ramesh Professor Michael Hanna	Premature termination in the CACNA1A gene observed in episodic ataxia type 2 (EA2) results in a loss of alpha1A calcium channel function	2000
Dr Vankateswara Ramesh Professor Michael Hanna	New mutations in the voltage-gated calcium channel gene CACNA1A in british families with episodic ataxia type 2	1999
Dr Vankateswara Ramesh Professor Janet Eyre	Abnormal development of biceps brachii phasic stretch reflex and persistence of short latency heteronymous reflexes from biceps to triceps brachii in spastic cerebral palsy	1998