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Stefano Doccini

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Cells|June 10, 2022
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 DiseaseStefano Doccini, Maria Marchese, Federica Morani, et al.
Molecular Psychiatry|May 9, 2025
CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten diseaseMaria Marchese, Sara Bernardi, Rachele Vivarelli, et al.
Nutrients|November 27, 2019
The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB ActivationSara Carpi, Egeria Scoditti, Marika Massaro, et al.
Neurobiology of Disease|May 19, 2024
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish modelMaria Marchese, Sara Bernardi, Asahi Ogi, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten diseaseEshaan S Rawat, Nick Manfred, Hisham N Alsohybe, et al.
Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.
Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.
International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.
Journal of Clinical Medicine|June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial DiseasesChiara Ticci, Daniele Orsucci, Anna Ardissone, et al.
Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.
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Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
Cells|June 10, 2022
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 DiseaseStefano Doccini, Maria Marchese, Federica Morani, et al.
Molecular Psychiatry|May 9, 2025
CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten diseaseMaria Marchese, Sara Bernardi, Rachele Vivarelli, et al.
Nutrients|November 27, 2019
The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB ActivationSara Carpi, Egeria Scoditti, Marika Massaro, et al.
Neurobiology of Disease|May 19, 2024
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish modelMaria Marchese, Sara Bernardi, Asahi Ogi, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten diseaseEshaan S Rawat, Nick Manfred, Hisham N Alsohybe, et al.
Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.
Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.
International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.
Journal of Clinical Medicine|June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial DiseasesChiara Ticci, Daniele Orsucci, Anna Ardissone, et al.
Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.
Pageof 5