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| 37943617 | Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death. | J Clin Invest | 2024 |
| 36190515 | Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. | Hum Mol Genet | 2023 |
| 37627565 | Role of Hydrogen Sulfide in Inflammatory Bowel Disease. | Antioxidants (Basel) | 2023 |
| 37623854 | Triple Therapy with Metformin, Ketogenic Diet, and Metronomic Cyclophosphamide Reduced Tumor Growth in MYCN-Amplified Neuroblastoma Xenografts. | Metabolites | 2023 |
| 37999237 | PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening. | Metabolites | 2023 |
| 37572574 | Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease. | Mol Genet Metab | 2023 |
| 37256937 | PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. | Sci Transl Med | 2023 |
| 37443714 | Galanin System in the Human Bile Duct and Perihilar Cholangiocarcinoma. | Cells | 2023 |
| 37372397 | Case Report-An Inherited Loss-of-Function <i>NRXN3</i> Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. | Genes (Basel) | 2023 |
| 37272928 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 2023 |
| 36851889 | Ageing is associated with a reduction in markers of mitochondrial energy metabolism in the human epidermis. | Exp Dermatol | 2023 |
| 36305855 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 2023 |
| 35247048 | Role of Energy Metabolism and Mitochondrial Function in Inflammatory Bowel Disease. | Inflamm Bowel Dis | 2022 |
| 35506430 | How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. | J Inherit Metab Dis | 2022 |
| 35851093 | Ketogenic diets slow melanoma growth in vivo regardless of tumor genetics and metabolic plasticity. | Cancer Metab | 2022 |
| 36553458 | A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome. | Genes (Basel) | 2022 |
| 36421421 | Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease. | Antioxidants (Basel) | 2022 |
| 36055214 | Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. | Am J Hum Genet | 2022 |
| 34954817 | Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. | Ann Neurol | 2022 |
| 35044816 | Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. | Sci Adv | 2022 |
| 33391479 | A new ketogenic formulation improves functional outcome and reduces tissue loss following traumatic brain injury in adult mice. | Theranostics | 2021 |
| 33498757 | Targeted Metabolomics Identifies Plasma Biomarkers in Mice with Metabolically Heterogeneous Melanoma Xenografts. | Cancers (Basel) | 2021 |
| 34468083 | A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder. | EMBO Mol Med | 2021 |
| 34750991 | Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. | EMBO Mol Med | 2021 |
| 34389986 | Congenital disorders of glycosylation with defective fucosylation. | J Inherit Metab Dis | 2021 |
| 34799272 | A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I. | Mol Genet Metab | 2021 |
| 34302123 | Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. | Genet Med | 2021 |
| 33965309 | The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. | Mol Genet Metab | 2021 |
| 33937156 | Case Report and Review of the Literature: A New and a Recurrent Variant in the <i>VARS2</i> Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy. | Front Pediatr | 2021 |
| 34003604 | De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. | Am J Med Genet A | 2021 |
| 34140661 | Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. | Genet Med | 2021 |
| 33999436 | Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. | Ann Neurol | 2021 |
| 31145995 | From old to new - Repurposing drugs to target mitochondrial energy metabolism in cancer. | Semin Cell Dev Biol | 2020 |
| 31883641 | Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. | Am J Hum Genet | 2020 |
| 33179603 | The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era. | J Mother Child | 2020 |
| 33007949 | Targeting Mitochondria in Melanoma. | Biomolecules | 2020 |
| 32707086 | Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. | Am J Hum Genet | 2020 |
| 32922652 | Age-Related Deterioration of Mitochondrial Function in the Intestine. | Oxid Med Cell Longev | 2020 |
| 32173460 | Changes in the expression of oxidative phosphorylation complexes in the aging intestinal mucosa. | Exp Gerontol | 2020 |
| 32533088 | Metabolic reprogramming related to whole-chromosome instability in models for Hürthle cell carcinoma. | Sci Rep | 2020 |
| 31399389 | Ketogenic diet in the treatment of cancer - Where do we stand? | Mol Metab | 2020 |
| 31630847 | The Influence of Ketogenic Diets on Psoriasiform-Like Skin Inflammation. | J Invest Dermatol | 2020 |
| 30589726 | Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. | J Pediatr Gastroenterol Nutr | 2019 |
| 31781212 | Targeting L-Lactate Metabolism to Overcome Resistance to Immune Therapy of Melanoma and Other Tumor Entities. | J Oncol | 2019 |
| 31242642 | Lithium and Not Acetoacetate Influences the Growth of Cells Treated with Lithium Acetoacetate. | Int J Mol Sci | 2019 |
| 31288420 | Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related Diseases. | J Clin Med | 2019 |
| 31398922 | Untargeted Metabolomics Reveals Molecular Effects of Ketogenic Diet on Healthy and Tumor Xenograft Mouse Models. | Int J Mol Sci | 2019 |
| 31092906 | Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. | Genet Med | 2019 |
| 31167495 | Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma. | Cells | 2019 |
| 30796225 | Inducing cancer indolence by targeting mitochondrial Complex I is potentiated by blocking macrophage-mediated adaptive responses. | Nat Commun | 2019 |