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Eleonora Pavan

Showing results (1-10 of 11) with videos related to

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Annals of Translational Medicine|August 9, 2019
Molecular genetics of Pompe disease: a comprehensive overviewPaolo Peruzzo, Eleonora Pavan, Andrea Dardis
International Journal of Molecular Sciences|May 9, 2020
CRISPR/Cas9 Editing for Gaucher Disease ModellingEleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, et al.
International Journal of Molecular Sciences|June 2, 2021
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier TestStefania Zampieri, Silvia Cattarossi, Eleonora Pavan, et al.
International Journal of Molecular Sciences|June 27, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 DysfunctionsEleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, et al.
Movement Disorders Clinical Practice|November 8, 2024
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal FailureFabiana Colucci, Andrea Dardis, Eleonora Pavan, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
<i>In vitro</i> and <i>in vivo</i> effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsyGiovanni Ciana, Andrea Dardis, Eleonora Pavan, et al.
Journal of Clinical Medicine|October 23, 2021
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD)Andrea Dardis, Eleonora Pavan, Martina Fabris, et al.
International Journal of Molecular Sciences|July 14, 2023
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 TechnologyMaximiliano Emanuel Ormazabal, Eleonora Pavan, Emilio Vaena, et al.
Frontiers in Neurology|February 11, 2026
Integrated bio-cooperative robotic platform for virtual cognitive training in Parkinson's disease: design and methodology of the OPERA projectCristina Polito, Giulia Martinelli, Sara Della Bella, et al.
Journal of Clinical Medicine|October 16, 2025
Preliminary User-Centred Evaluation of a Bio-Cooperative Robotic Platform for Cognitive Rehabilitation in Parkinson's Disease and Mild Cognitive Impairment: Insights from a Focus Group and Living Lab in the OPERA ProjectYlenia Crocetto, Simona Abagnale, Giulia Martinelli, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Annals of Translational Medicine|August 9, 2019
Molecular genetics of Pompe disease: a comprehensive overviewPaolo Peruzzo, Eleonora Pavan, Andrea Dardis
International Journal of Molecular Sciences|May 9, 2020
CRISPR/Cas9 Editing for Gaucher Disease ModellingEleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, et al.
International Journal of Molecular Sciences|June 2, 2021
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier TestStefania Zampieri, Silvia Cattarossi, Eleonora Pavan, et al.
International Journal of Molecular Sciences|June 27, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 DysfunctionsEleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, et al.
Movement Disorders Clinical Practice|November 8, 2024
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal FailureFabiana Colucci, Andrea Dardis, Eleonora Pavan, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
<i>In vitro</i> and <i>in vivo</i> effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsyGiovanni Ciana, Andrea Dardis, Eleonora Pavan, et al.
Journal of Clinical Medicine|October 23, 2021
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD)Andrea Dardis, Eleonora Pavan, Martina Fabris, et al.
International Journal of Molecular Sciences|July 14, 2023
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 TechnologyMaximiliano Emanuel Ormazabal, Eleonora Pavan, Emilio Vaena, et al.
Frontiers in Neurology|February 11, 2026
Integrated bio-cooperative robotic platform for virtual cognitive training in Parkinson's disease: design and methodology of the OPERA projectCristina Polito, Giulia Martinelli, Sara Della Bella, et al.
Journal of Clinical Medicine|October 16, 2025
Preliminary User-Centred Evaluation of a Bio-Cooperative Robotic Platform for Cognitive Rehabilitation in Parkinson's Disease and Mild Cognitive Impairment: Insights from a Focus Group and Living Lab in the OPERA ProjectYlenia Crocetto, Simona Abagnale, Giulia Martinelli, et al.
Pageof 2