Vincenzo Sorrentino

EPFL Innovation Park
Lausanne, VD 1015, Switzerland

Last Updated: 09/26/2026

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Found 95 publications

In-frame exon skipping induced by the c.14510delA variant in RYR1.

In-frame exon skipping induced by the c.14510delA variant in RYR1.

Journal: European journal of translational myology

Published: April 29, 2026

"SelO"ective NAD+ hydrolysis regulates mitochondrial NAD+ and homeostasis.

"SelO"ective NAD+ hydrolysis regulates mitochondrial NAD+ and homeostasis.

Journal: Cell chemical biology

Published: April 23, 2026

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Journal: Cells

Published: February 12, 2026

Recurrent fever and association with severe organ involvement, mortality and treatment outcomes in VEXAS syndrome: data from the AIDA Network.

Recurrent fever and association with severe organ involvement, mortality and treatment outcomes in VEXAS syndrome: data from the AIDA Network.

Journal: Frontiers in immunology

Published: November 24, 2025

VEXAS syndrome and cancer: Insights about a possible "Tip of the Iceberg". Ambidirectional data from the international AIDA network registries.

VEXAS syndrome and cancer: Insights about a possible "Tip of the Iceberg". Ambidirectional data from the international AIDA network registries.

Journal: Seminars in arthritis and rheumatism

Published: November 14, 2025

Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.

Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.

Journal: International journal of molecular sciences

Published: October 28, 2025

Supplements and Drugs Are Associated With Biological Age in a Cohort of Exceptionally Healthy Individuals.

Supplements and Drugs Are Associated With Biological Age in a Cohort of Exceptionally Healthy Individuals.

Journal: Aging cell

Published: September 21, 2025

Estrogens and Antioxidants Prevent the Formation of Tubular Aggregates in Aging Male Mice.

Estrogens and Antioxidants Prevent the Formation of Tubular Aggregates in Aging Male Mice.

Journal: International journal of molecular sciences

Published: July 21, 2025

Transgenic overexpression of miR-486 and sAnk1.5 does not alter glucose handling in mice.

Transgenic overexpression of miR-486 and sAnk1.5 does not alter glucose handling in mice.

Journal: Biochimica et biophysica acta. Molecular cell research

Published: July 11, 2025

Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.

Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.

Journal: Neuromuscular disorders : NMD

Published: June 24, 2025

NNMT inhibition counteracts tubular senescence and fibrosis in early stages of chronic kidney disease.

NNMT inhibition counteracts tubular senescence and fibrosis in early stages of chronic kidney disease.

Journal: Cell reports

Published: April 24, 2025

The role of NAD+ metabolism and its modulation of mitochondria in aging and disease.

The role of NAD+ metabolism and its modulation of mitochondria in aging and disease.

Journal: npj metabolic health and disease

Published: February 13, 2025

Showing 1-12 of 95

Last Updated: 09/26/2026