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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy

American journal of medical genetics. Part A, 2023-09, Vol.191 (9), p.2428-2432

2023

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Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2617

2023

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Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies

Frontiers in psychiatry, 2022-03, Vol.13, p.827744-827744

2022

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Whole mitochondrial genome diversity in two Hungarian populations

Molecular genetics and genomics : MGG, 2018-10, Vol.293 (5), p.1255-1263

2018

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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-290, Article 290

2020

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Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

BMC medical genomics, 2024-01, Vol.17 (1), p.30-30, Article 30

2024

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Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients

Neuromuscular disorders : NMD, 2018-01, Vol.28 (1), p.38-43

2018

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The European challenges of funding orphan medicinal products

Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.184-184, Article 184

2018

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Tight co-twin similarity of monozygotic twins for hTERT protein level of T cell subsets, for telomere length and mitochondrial DNA copy number, but not for telomerase activity

Cellular and molecular life sciences : CMLS, 2018-07, Vol.75 (13), p.2447-2456

2018

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

Frontiers in genetics, 2019-05, Vol.10, p.434-434

2019

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NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

Frontiers in genetics, 2018-08, Vol.9, p.335

2018

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Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

Behavioral and brain functions, 2018-02, Vol.14 (1), p.4-4, Article 4

2018

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Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes

Stem cell research & therapy, 2020-11, Vol.11 (1), p.504-504, Article 504

2020

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Positive association and future perspectives of mitochondrial DNA copy number and telomere length - a pilot twin study

Archives of medical science, 2021-01, Vol.17 (5), p.1191-1199

2021

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The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population

Parkinson's disease, 2018, Vol.2018, p.9351598-7

2018

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Sharing sensitive research data in the practice of personalised medicine

Orvosi hetilap, 2023-05, Vol.164 (21), p.811

2023

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Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”

EMBO molecular medicine, 2023-08, Vol.15 (8), p.e16251-n/a

2023

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Personalized treatment options for spinal muscular atrophy

Ideggyógyászati szemle, 2023-03, Vol.76 (3-4), p.77

2023

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Chloroquine cardiotoxicity mimicking connective tissue disease heart involvement

Immunopharmacology and immunotoxicology, 2013-04, Vol.35 (2), p.304-306

2013

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Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients

European journal of paediatric neurology, 2020-07, Vol.27, p.37-42

2020

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The importance of patient reported outcome measures in Pompe disease

Ideggyógyászati szemle, 2021-03, Vol.74 (3-4), p.105

2021

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Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

Cell calcium (Edinburgh), 2015-01, Vol.57 (1), p.49-55

2015

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Polymyositis and rhabdomyolysis caused by hepatocellular carcinoma - Case report and literature review

Annals of medicine and surgery, 2021-05, Vol.65, p.102269, Article 102269

2021

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Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort

European archives of oto-rhino-laryngology, 2018-10, Vol.275 (10), p.2441-2448

2018

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Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene

Orvosi hetilap, 2020-05, Vol.161 (20), p.821

2020

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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy

Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene

Real-Life Clinical Experience With Cariprazine: A Systematic Review of Case Studies

Whole mitochondrial genome diversity in two Hungarian populations

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients

The European challenges of funding orphan medicinal products

Tight co-twin similarity of monozygotic twins for hTERT protein level of T cell subsets, for telomere length and mitochondrial DNA copy number, but not for telomerase activity

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

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement

Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes

Positive association and future perspectives of mitochondrial DNA copy number and telomere length - a pilot twin study

The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population

Sharing sensitive research data in the practice of personalised medicine

Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”

Personalized treatment options for spinal muscular atrophy

Chloroquine cardiotoxicity mimicking connective tissue disease heart involvement

Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients

The importance of patient reported outcome measures in Pompe disease

Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

Polymyositis and rhabdomyolysis caused by hepatocellular carcinoma - Case report and literature review

Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort

Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene

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