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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
Dr Mario Abinun
Dr Rob Forsyth
Dr Vankateswara Ramesh
Treatment of primary angiitis of the central nervous system in childhood with mycophenolate mofetil2010
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 reviews2009
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 dystonia2007
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 infection2007
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 cord2006
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 gene2006
Dr Vankateswara Ramesh
Non-epileptic attacks after successful epilepsy surgery2005
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 infection2005
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 homocystinuria2004
Professor Patrick Chinnery
Sharon Foster
Dr Vankateswara Ramesh
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene2004
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 megalencephaly2004
Dr Sally Lynch
Dr Vankateswara Ramesh
Professor Sunil Sinha
Male neonatal encephalopathy and the MECP2 gene2003
Dr Vankateswara Ramesh
Dr Daniel Birchall
Serial MRI in a case of familial hemiplegic migraine2003
Dr Vankateswara Ramesh
Professor Sunil Sinha
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP22003
Dr Vankateswara Ramesh
Professor Michael Hanna
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel2001
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 children2001
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 function2000
Dr Vankateswara Ramesh
Professor Michael Hanna
New mutations in the voltage-gated calcium channel gene CACNA1A in british families with episodic ataxia type 21999
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 palsy1998