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Mitophagy in Huntington's disease

Neurochemistry international, 2021-10, Vol.149, p.105147-105147, Article 105147

2021

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Analysis of Expression Profiles of Genes Involved in FoF1-ATP Synthase Biogenesis During Perinatal Development in Rat Liver and Skeletal Muscle

Physiological research, 2016-08, Vol.65 (4), p.597-608

2016

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Mitochondrial respiration in bipolar affective disorder

European neuropsychopharmacology, 2016-10, Vol.26, p.S426-S426

2016

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Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review

Neurogenetics, 2021-10, Vol.22 (4), p.359-364

2021

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Stable COX17 Downregulation Leads to Alterations in Mitochondrial Ultrastructure, Decreased Copper Content and Impaired Cytochrome c Oxidase Biogenesis in HEK293 Cells

Folia biologica, 2019-01, Vol.65 (4), p.181-187

2019

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Novel mutations in the TAZ gene in patients with Barth syndrome

Prague medical report, 2013, Vol.114 (3), p.139-153

2013

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In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer: Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review

Neurogenetics, 2022, Vol.23 (1), p.67-68

2022

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Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case

Folia biologica, 2019-01, Vol.65 (3), p.134-141

2019

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A new role for dolichol isoform profile in the diagnostics of CDG disorders

Clinica chimica acta, 2020-08, Vol.507, p.88-93

2020

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The effect of very-low-calorie diet on mitochondrial dysfunction in subcutaneous adipose tissue and peripheral monocytes of obese subjects with type 2 diabetes mellitus

Physiological research, 2017-01, Vol.66 (5), p.811-822

2017

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In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer

Neurogenetics, 2022-01, Vol.23 (1), p.67-68

2022

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Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG

Molecular genetics and metabolism, 2023-08, Vol.139 (4), p.107629-107629, Article 107629

2023

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Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency

Prague medical report, 2012, Vol.113 (2), p.136-146

2012

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The phenotypic spectrum of fifty Czech m.3243A>G carriers

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.288-295

2016

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Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease

Folia biologica, 2017-01, Vol.63 (5-6), p.165-173

2017

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Buccal Respiratory Chain Complexes I and IV Quantities in Huntington's Disease Patients

Folia biologica, 2018, Vol.64 (1), p.31-34

2018

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Disturbances of mitochondrial parameters to distinguish patients with depressive episode of bipolar disorder and major depressive disorder

Neuropsychiatric disease and treatment, 2019-01, Vol.15, p.233-240

2019

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Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay

Folia biologica, 2014-01, Vol.60 (6), p.268-274

2014

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Deficiency of mitochondrial ATP synthase of nuclear genetic origin

Neuromuscular disorders : NMD, 2006-12, Vol.16 (12), p.821-829

2006

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Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

Ultrastructural pathology, 2015-09, Vol.39 (5), p.340-350

2015

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Genetic defects of cytochrome c oxidase assembly

Physiological research, 2004, Vol.53 Suppl 1, p.S213-S223

2004

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NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome

European journal of paediatric neurology, 2008, Vol.12, p.S52-S53

2008

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A Novel Deficiency of Mitochondrial ATPase of Nuclear Origin

Human molecular genetics, 1999-10, Vol.8 (11), p.1967-1974

1999

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Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene

Prague medical report, 2011, Vol.112 (1), p.18-28

2011

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B33 Non-neural Mitochondrial Impairment In Huntington’s Disease Patients And Minipigs Transgenic For The N-terminal Part Of Human Mutated Huntingtin

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A20-A21

2014

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Mitophagy in Huntington's disease

Analysis of Expression Profiles of Genes Involved in FoF1-ATP Synthase Biogenesis During Perinatal Development in Rat Liver and Skeletal Muscle

Mitochondrial respiration in bipolar affective disorder

Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review

Stable COX17 Downregulation Leads to Alterations in Mitochondrial Ultrastructure, Decreased Copper Content and Impaired Cytochrome c Oxidase Biogenesis in HEK293 Cells

Novel mutations in the TAZ gene in patients with Barth syndrome

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case

A new role for dolichol isoform profile in the diagnostics of CDG disorders

The effect of very-low-calorie diet on mitochondrial dysfunction in subcutaneous adipose tissue and peripheral monocytes of obese subjects with type 2 diabetes mellitus

In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer

Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency

The phenotypic spectrum of fifty Czech m.3243A>G carriers

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease

Buccal Respiratory Chain Complexes I and IV Quantities in Huntington's Disease Patients

Disturbances of mitochondrial parameters to distinguish patients with depressive episode of bipolar disorder and major depressive disorder

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

Genetic defects of cytochrome c oxidase assembly

NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome

A Novel Deficiency of Mitochondrial ATPase of Nuclear Origin

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene

B33 Non-neural Mitochondrial Impairment In Huntington’s Disease Patients And Minipigs Transgenic For The N-terminal Part Of Human Mutated Huntingtin

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