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Boglarka Bansagi

Showing results (1-10 of 14) with videos related to

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Journal of Inherited Metabolic Disease|November 20, 2014
Reversible infantile mitochondrial diseasesVeronika Boczonadi, Boglarka Bansagi, Rita Horvath
Brain : a Journal of Neurology|June 12, 2015
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyBoglarka Bansagi, Helen Griffin, Venkateswaran Ramesh, et al.
Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Neurology. Genetics|November 24, 2016
Phenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.
Neuromuscular Disorders : NMD|April 23, 2015
Phenotypic variability of TRPV4 related neuropathiesTeresinha Evangelista, Boglarka Bansagi, Angela Pyle, et al.
Journal of Neurology|June 3, 2015
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and IrelandBoglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, et al.
Neurology|November 1, 2015
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndromeRoger G Whittaker, David N Herrmann, Boglarka Bansagi, et al.
Human Molecular Genetics|April 13, 2018
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neuronsVeronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, et al.
Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.
Journal of Neurology|September 4, 2014
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencyAndrea Balreira, Veronika Boczonadi, Emanuele Barca, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Journal of Inherited Metabolic Disease|November 20, 2014
Reversible infantile mitochondrial diseasesVeronika Boczonadi, Boglarka Bansagi, Rita Horvath
Brain : a Journal of Neurology|June 12, 2015
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyBoglarka Bansagi, Helen Griffin, Venkateswaran Ramesh, et al.
Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Neurology. Genetics|November 24, 2016
Phenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.
Neuromuscular Disorders : NMD|April 23, 2015
Phenotypic variability of TRPV4 related neuropathiesTeresinha Evangelista, Boglarka Bansagi, Angela Pyle, et al.
Journal of Neurology|June 3, 2015
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and IrelandBoglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, et al.
Neurology|November 1, 2015
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndromeRoger G Whittaker, David N Herrmann, Boglarka Bansagi, et al.
Human Molecular Genetics|April 13, 2018
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neuronsVeronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, et al.
Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.
Journal of Neurology|September 4, 2014
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencyAndrea Balreira, Veronika Boczonadi, Emanuele Barca, et al.
Pageof 2