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Pia Gallano

Showing results (21-30 of 30) with videos related to

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Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
Orphanet Journal of Rare Diseases|October 25, 2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyJonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, et al.
Genes|May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainLidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.
The Journal of Molecular Diagnostics : JMD|May 15, 2022
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesGemma Bullich, Leslie Matalonga, Montserrat Pujadas, et al.
Annals of Neurology|July 28, 2022
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 DeletionJavier Poyatos-García, Pilar Martí, Alessandro Liquori, et al.
Journal of Neurology|January 15, 2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, et al.
Brain : a Journal of Neurology|September 13, 2021
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophyJorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, et al.
Annals of Clinical and Translational Neurology|May 25, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle DiseasesAlba Segarra-Casas, Cristina Domínguez-González, Daniel Natera-de Benito, et al.
Brain : a Journal of Neurology|September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyJorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.
Journal of Medical Genetics|October 7, 2019
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studiesMassimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, et al.
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Showing results (21-30 of 30) with videos related to

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Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
Orphanet Journal of Rare Diseases|October 25, 2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyJonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, et al.
Genes|May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainLidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.
The Journal of Molecular Diagnostics : JMD|May 15, 2022
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesGemma Bullich, Leslie Matalonga, Montserrat Pujadas, et al.
Annals of Neurology|July 28, 2022
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 DeletionJavier Poyatos-García, Pilar Martí, Alessandro Liquori, et al.
Journal of Neurology|January 15, 2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, et al.
Brain : a Journal of Neurology|September 13, 2021
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophyJorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, et al.
Annals of Clinical and Translational Neurology|May 25, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle DiseasesAlba Segarra-Casas, Cristina Domínguez-González, Daniel Natera-de Benito, et al.
Brain : a Journal of Neurology|September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyJorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.
Journal of Medical Genetics|October 7, 2019
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studiesMassimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, et al.
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