Publikationen in Zusammenarbeit mit Forschern von University of Padua (38)

2021

  1. Coenzyme Q biosynthesis disorders

    Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 143-190

  2. Cortical Circuitry and Synaptic Dysfunctions in Alzheimer's Disease and Other Dementias

    Neural Plasticity, Vol. 2021

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  4. Mitochondrial diseases: Theory, diagnosis and therapy

    Springer International Publishing, pp. 1-305

  5. Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

    Free Radical Biology and Medicine, Vol. 167, pp. 141-180

2020

  1. Molecular Structure, Biosynthesis, and Distribution of Coenzyme Q

    Coenzyme Q in Aging (Springer International Publishing), pp. 11-49

  2. Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease

    Molecular Therapy, Vol. 28, Núm. 8, pp. 1918-1930

2018

  1. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

  2. Clinical syndromes associated with Coenzyme Q10 deficiency

    Essays in Biochemistry, Vol. 62, Núm. 3, pp. 377-398

  3. Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

    Human Mutation, Vol. 39, Núm. 3, pp. 406-414

2015

  1. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

  2. Primary coenzyme Q 10 deficiency presenting as fatal neonatal multiorgan failure

    European Journal of Human Genetics, Vol. 23, Núm. 9, pp. 1254-1258

  3. The genes of coenzyme Q10 biosynthesis

    Coenzyme Q10: From Fact to Fiction (Nova Science Publishers, Inc.), pp. 205-225