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Luciano Merlini

Showing results (111-120 of 117) 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.
Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, 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.
Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, 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.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Pageof 12

Showing results (111-120 of 117) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 117 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.
Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, 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.
Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, 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.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Pageof 12