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Who was more likely to work from home during the COVID-19 pandemic? A gender perspective in Switzerland

Regional studies, regional science, 2024-12, Vol.11 (1), p.236-254

2024

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Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

Frontiers in genetics, 2024-08, Vol.15, p.1437959

2024

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Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae

Human molecular genetics, 2024-06, Vol.33 (13), p.1152-1163

2024

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Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment

Cell death & disease, 2024-04, Vol.15 (4), p.281-281, Article 281

2024

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Little Evidence for Conservative Toe Walking Interventions in Autism Spectrum Disorders: a Systematic Review

Review journal of autism and developmental disorders, 2024-03, Vol.11 (1), p.107-120

2024

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Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

Journal of medical genetics, 2024-01, Vol.61 (1), p.93-101

2024

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The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG‐related disorders

IUBMB life, 2023-12, Vol.75 (12), p.983-1002

2023

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Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae

International journal of molecular sciences, 2023-06, Vol.24 (13), p.10696

2023

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Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast ISaccharomyces cerevisiae/I

International journal of molecular sciences, 2023-06, Vol.24 (13)

2023

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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON)

PloS one, 2023-02, Vol.18 (2), p.e0275703-e0275703

2023

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Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2178

2023

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Remdesivir does not affect mitochondrial DNA copy number or deletion mutation frequency in aged male rats: A short report

PloS one, 2022-10, Vol.17 (10), p.e0271850

2022

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Digitisation, Artificial Intelligence, and the (Re)integration of Vulnerable Groups in the Labour Market: Evidence from Switzerland

The Relevance of Artificial Intelligence in the Digital and Green Transformation of Regional and Local Labour Markets Across Europe, 2022, p.301-316

1, 2022

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Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability

Genes, 2021-11, Vol.12 (12), p.1866

2021

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A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool

International journal of molecular sciences, 2021-11, Vol.22 (22), p.12223

2021

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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Human genetics, 2021-11, Vol.140 (11), p.1593-1609

2021

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Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants

International journal of molecular sciences, 2021-04, Vol.22 (9), p.4524

2021

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Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Journal of medical genetics, 2021-03, Vol.58 (3), p.155-167

2021

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How to easily detect plant NADH-glutamate dehydrogenase (GDH) activity? A simple and reliable in planta procedure suitable for tissues, extracts and heterologous microbial systems

Plant science (Limerick), 2021-03, Vol.304, p.110714-110714, Article 110714

2021

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The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases

Genes, 2021-02, Vol.12 (2), p.300

2021

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Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

Human molecular genetics, 2021-01, Vol.29 (22), p.3631-3645

2021

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Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

Cell death & disease, 2021-01, Vol.12 (1), p.100-18, Article 100

2021

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Hsp104-dependent ability to assimilate mannitol and sorbitol conferred by a truncated Cyc8 with a C-terminal polyglutamine in Saccharomyces cerevisiae

PloS one, 2020-11, Vol.15 (11), p.e0242054-e0242054

2020

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Metabolic engineering considerations for the heterologous expression of xylose-catabolic pathways in Saccharomyces cerevisiae

PloS one, 2020-07, Vol.15 (7), p.e0236294-e0236294

2020

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Who was more likely to work from home during the COVID-19 pandemic? A gender perspective in Switzerland

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae

Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment

Little Evidence for Conservative Toe Walking Interventions in Autism Spectrum Disorders: a Systematic Review

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG‐related disorders

Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae

Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast ISaccharomyces cerevisiae/I

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON)

Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models

Remdesivir does not affect mitochondrial DNA copy number or deletion mutation frequency in aged male rats: A short report

Digitisation, Artificial Intelligence, and the (Re)integration of Vulnerable Groups in the Labour Market: Evidence from Switzerland

Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability

A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

How to easily detect plant NADH-glutamate dehydrogenase (GDH) activity? A simple and reliable in planta procedure suitable for tissues, extracts and heterologous microbial systems

The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

Hsp104-dependent ability to assimilate mannitol and sorbitol conferred by a truncated Cyc8 with a C-terminal polyglutamine in Saccharomyces cerevisiae

Metabolic engineering considerations for the heterologous expression of xylose-catabolic pathways in Saccharomyces cerevisiae

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