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Annals of Translational Medicine
|
August 9, 2019
Molecular genetics of Pompe disease: a comprehensive overview
Paolo Peruzzo, Eleonora Pavan, Andrea Dardis
International Journal of Molecular Sciences
|
May 9, 2020
CRISPR/Cas9 Editing for Gaucher Disease Modelling
Eleonora 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 Test
Stefania 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 Dysfunctions
Eleonora 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 Failure
Fabiana 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 epilepsy
Giovanni 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 Technology
Maximiliano 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 project
Cristina 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 Project
Ylenia Crocetto, Simona Abagnale, Giulia Martinelli, et al.
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Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Annals of Translational Medicine
|
August 9, 2019
Molecular genetics of Pompe disease: a comprehensive overview
Paolo Peruzzo, Eleonora Pavan, Andrea Dardis
International Journal of Molecular Sciences
|
May 9, 2020
CRISPR/Cas9 Editing for Gaucher Disease Modelling
Eleonora 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 Test
Stefania 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 Dysfunctions
Eleonora 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 Failure
Fabiana 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 epilepsy
Giovanni 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 Technology
Maximiliano 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 project
Cristina 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 Project
Ylenia Crocetto, Simona Abagnale, Giulia Martinelli, et al.
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of 2