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Francesca Gualandi

Showing results (161-170 of 169) with videos related to

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Journal of Cell Science|March 6, 2016
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyChiara Scotton, Matteo Bovolenta, Elena Schwartz, et al.
Plos One|January 15, 2014
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changesMarika Pane, Elena S Mazzone, Maria Pia Sormani, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Neurology. Genetics|December 30, 2020
Ethnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita Selvatici, Rachele Rossi, Fernanda Fortunato, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
American Journal of Human Genetics|December 29, 2005
GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Pageof 17

Showing results (161-170 of 169) with videos related to

Sort By:
Pageof 17
You have reached the last page of results.This site can display upto 169 results.
Journal of Cell Science|March 6, 2016
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyChiara Scotton, Matteo Bovolenta, Elena Schwartz, et al.
Plos One|January 15, 2014
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changesMarika Pane, Elena S Mazzone, Maria Pia Sormani, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Neurology. Genetics|December 30, 2020
Ethnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita Selvatici, Rachele Rossi, Fernanda Fortunato, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
American Journal of Human Genetics|December 29, 2005
GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Pageof 17