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Klara Pentelenyi

Semmelweis University

17

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120

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The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease

2021 Life
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[Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája].

2020 Orvosi Hetilap
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Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients

2019 Frontiers in Genetics
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Broadening the phenotype of the TWNK gene associated Perrault syndrome

2019 BMC Medical Genetics
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Whole mitochondrial genome diversity in two Hungarian populations

2018 Molecular Genetics and Genomics
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Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

2018 Behavioral and Brain Functions
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Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands

2016 Journal of the Neurological Sciences
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Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases

2015 Mitochondrial DNA
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Asian-specific mitochondrial genome polymorphism (9-bp deletion) in Hungarian patients with mitochondrial disease.

2014 Mitochondrial DNA
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Predictiting valproate toxicity in patients with mitochondrial disorders

2014 The Epma Journal
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