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Pia Gallano

Showing results (11-20 of 30) with videos related to

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Neuropathology and Applied Neurobiology|January 16, 2025
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca<sup>2+</sup>-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar MyopathyLaura Llansó, Gianina Ravenscroft, Cristina Aceituno, et al.
Neuromuscular Disorders : NMD|November 28, 2023
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patientsLaura Bermejo-Guerrero, Carlos Pablo de Fuenmayor Fernández-de la Hoz, Lidia González-Quereda, et al.
Pediatric Neurology|December 17, 2020
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric CohortDaniel Natera-de Benito, Carlos Ortez, Cristina Jou, et al.
Plos One|March 29, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypesJonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, et al.
Journal of Medical Genetics|December 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing eventsAlba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, et al.
Annals of Clinical and Translational Neurology|July 22, 2025
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal FeaturesLaura Llansó, Igor Stevanovski, Germán Morís, et al.
Neuromuscular Disorders : NMD|August 22, 2020
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndromeEdna Julieth Bobadilla-Quesada, Daniel Natera-de Benito, Laura Carrera-García, et al.
Scientific Reports|October 3, 2019
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
Scientific Reports|November 11, 2020
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
European Journal of Neurology|January 1, 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle crampsAlba Segarra-Casas, Pablo Iruzubieta, Solange Kapetanovic, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Neuropathology and Applied Neurobiology|January 16, 2025
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca<sup>2+</sup>-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar MyopathyLaura Llansó, Gianina Ravenscroft, Cristina Aceituno, et al.
Neuromuscular Disorders : NMD|November 28, 2023
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patientsLaura Bermejo-Guerrero, Carlos Pablo de Fuenmayor Fernández-de la Hoz, Lidia González-Quereda, et al.
Pediatric Neurology|December 17, 2020
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric CohortDaniel Natera-de Benito, Carlos Ortez, Cristina Jou, et al.
Plos One|March 29, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypesJonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, et al.
Journal of Medical Genetics|December 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing eventsAlba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, et al.
Annals of Clinical and Translational Neurology|July 22, 2025
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal FeaturesLaura Llansó, Igor Stevanovski, Germán Morís, et al.
Neuromuscular Disorders : NMD|August 22, 2020
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndromeEdna Julieth Bobadilla-Quesada, Daniel Natera-de Benito, Laura Carrera-García, et al.
Scientific Reports|October 3, 2019
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
Scientific Reports|November 11, 2020
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
European Journal of Neurology|January 1, 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle crampsAlba Segarra-Casas, Pablo Iruzubieta, Solange Kapetanovic, et al.
Pageof 3