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Browsing publications by
Dr Boglarka Bansagi.
Newcastle Authors
Title
Year
Full text
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 Q
10
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