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Pia Gallano

Showing results (1-10 of 30) with videos related to

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BMC Medical Genetics|May 13, 2018
Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish familyLaura Alías, Jaume Crespi, Lidia González-Quereda, et al.
Plos One|August 19, 2015
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsJonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, et al.
Neuromuscular Disorders : NMD|January 19, 2020
Cylindrical spirals in two families: Clinical and genetic investigationsSarah J Beecroft, Montse Olive, Lidia Gonzalez Quereda, et al.
Annals of Clinical and Translational Neurology|December 4, 2020
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron diseaseLidia Gonzalez-Quereda, Inmaculada Pagola, Pablo Fuentes Prior, et al.
Journal of Neuromuscular Diseases|June 18, 2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathyLaura Llansó, David Reyes-Leiva, Alba Segarra-Casas, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counsellingLaura Alías, Sara Bernal, Maite Calucho, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 14, 2020
Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological patternFerran Seguí, Lidia Gonzalez-Quereda, Aurora Sanchez, et al.
Neuromuscular Disorders : NMD|July 16, 2018
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvementLidia Gonzalez-Quereda, Eduard Gallardo, Ana Töpf, et al.
Archives of Neurology|August 10, 2005
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish populationJuan J Vilchez, Pia Gallano, Eduard Gallardo, et al.
Neuromuscular Disorders : NMD|March 9, 2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weaknessAlba Segarra-Casas, Roger Collet, Lidia Gonzalez-Quereda, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
BMC Medical Genetics|May 13, 2018
Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish familyLaura Alías, Jaume Crespi, Lidia González-Quereda, et al.
Plos One|August 19, 2015
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsJonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, et al.
Neuromuscular Disorders : NMD|January 19, 2020
Cylindrical spirals in two families: Clinical and genetic investigationsSarah J Beecroft, Montse Olive, Lidia Gonzalez Quereda, et al.
Annals of Clinical and Translational Neurology|December 4, 2020
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron diseaseLidia Gonzalez-Quereda, Inmaculada Pagola, Pablo Fuentes Prior, et al.
Journal of Neuromuscular Diseases|June 18, 2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathyLaura Llansó, David Reyes-Leiva, Alba Segarra-Casas, et al.
European Journal of Human Genetics : EJHG|June 16, 2018
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counsellingLaura Alías, Sara Bernal, Maite Calucho, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 14, 2020
Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological patternFerran Seguí, Lidia Gonzalez-Quereda, Aurora Sanchez, et al.
Neuromuscular Disorders : NMD|July 16, 2018
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvementLidia Gonzalez-Quereda, Eduard Gallardo, Ana Töpf, et al.
Archives of Neurology|August 10, 2005
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish populationJuan J Vilchez, Pia Gallano, Eduard Gallardo, et al.
Neuromuscular Disorders : NMD|March 9, 2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weaknessAlba Segarra-Casas, Roger Collet, Lidia Gonzalez-Quereda, et al.
Pageof 3