Publications by Dr Boglarka Bansagi - ePrints

Browsing publications by Dr Boglarka Bansagi.

Newcastle Authors	Title	Year
Dr Grace McMacken Professor Hanns Lochmuller Dr Boglarka Bansagi Dr Angela Pyle Professor Patrick Chinnery et al.	Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion	2020
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 Veronika Boczonadi Dr Helen Griffin Dr Andreas Roos Marina Bartsakoulia Dr Boglarka Bansagi et al.	Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons	2018
Professor Rita Horvath Dr Boglarka Bansagi	Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2	2018
Dr Boglarka Bansagi Dr John O'Sullivan Dr Juliane Mueller Dr Jennifer Duff Professor Grainne Gorman et al.	Multifocal motor neuropathy caused by phosphatase and tensin homologue (PTEN) mutation	2016
Dr Veronika Boczonadi Marina Bartsakoulia Dr Boglarka Bansagi Dr Francesco Bruni Dr Juliane Mueller et al.	Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons	2016
Dr Veronika Boczonadi Marina Bartsakoulia Dr Boglarka Bansagi Dr Francesco Bruni Dr Juliane Mueller et al.	Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons	2016
Professor Roger Whittaker Dr Boglarka Bansagi Professor Hanns Lochmuller Professor Rita Horvath	Clinical and Neurophysiological findings in synaptotagmin 2 mutations: a novel and potentially treatable neuromuscular disease	2015
Professor Roger Whittaker Dr Boglarka Bansagi Professor Rita Horvath Professor Hanns Lochmuller	Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome	2015
Dr Boglarka Bansagi Professor Hanns Lochmuller Professor Patrick Chinnery Professor Rita Horvath	Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland	2015
Dr Teresinha Evangelista Dr Boglarka Bansagi Dr Angela Pyle Dr Helen Griffin Dr Konstantinos Douroudis et al.	Phenotypic variability of TRPV4 related neuropathies	2015
Dr Veronika Boczonadi Dr Boglarka Bansagi Professor Rita Horvath	Reversible infantile mitochondrial diseases	2015
Dr Boglarka Bansagi Dr Angela Pyle Dr Helen Griffin Professor Patrick Chinnery Professor Hanns Lochmuller et al.	STAT5B Mutation as a Cause of Growth Retardation Associated with Neuromuscular Symptoms	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 Veronika Boczonadi Dr Angela Pyle Dr Boglarka Bansagi Marie Appleton Professor Hanns Lochmuller et al.	ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency	2014
Professor Rita Horvath Professor Roger Whittaker Dr Boglarka Bansagi Dr Angela Pyle Dr Veronika Boczonadi et al.	Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy	2014
Dr Boglarka Bansagi Marina Bartsakoulia Professor Michael Hanna Professor Rita Horvath	Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2	2014