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Pediatric Neurology
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January 15, 2022
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
Díadac Casas-Alba, Clara Oliva, María Del Carmen Salgado, et al.
Iscience
|
December 14, 2021
Low levels of <i>CIITA</i> and high levels of <i>SOCS1</i> predict COVID-19 disease severity in children and adults
Mònica Girona-Alarcon, Guillermo Argüello, Ana Esteve-Sole, et al.
International Journal of Molecular Sciences
|
April 13, 2023
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
Anna Codina, Mònica Roldán, Daniel Natera-de Benito, et al.
Annals of Clinical and Translational Neurology
|
January 18, 2023
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Daniel Natera-de Benito, Jonathan Olival, Carla Garcia-Cabau, et al.
Journal of Neuromuscular Diseases
|
April 11, 2023
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
Selena Trifunov, Daniel Natera-de Benito, Laura Carrera-García, et al.
Journal of Clinical Immunology
|
December 26, 2025
Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood
Yiyi Luo, Guillermo Argüello, Daniel Acevedo, et al.
Journal of Neuropathology and Experimental Neurology
|
July 27, 2025
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients
Gianmarco Severa, Sultan Bastu, Giovanni Umberto Borin, et al.
Annals of Clinical and Translational Neurology
|
May 30, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
Florencia Pérez-Vidarte, Berta Estévez-Arias, Leslie Matalonga, et al.
Journal of Neuromuscular Diseases
|
March 15, 2024
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, et al.
Pediatric Neurology
|
December 17, 2020
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
Daniel Natera-de Benito, Carlos Ortez, Cristina Jou, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 49) with videos related to
Sort By:
Page
of 5
Pediatric Neurology
|
January 15, 2022
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
Díadac Casas-Alba, Clara Oliva, María Del Carmen Salgado, et al.
Iscience
|
December 14, 2021
Low levels of <i>CIITA</i> and high levels of <i>SOCS1</i> predict COVID-19 disease severity in children and adults
Mònica Girona-Alarcon, Guillermo Argüello, Ana Esteve-Sole, et al.
International Journal of Molecular Sciences
|
April 13, 2023
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
Anna Codina, Mònica Roldán, Daniel Natera-de Benito, et al.
Annals of Clinical and Translational Neurology
|
January 18, 2023
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Daniel Natera-de Benito, Jonathan Olival, Carla Garcia-Cabau, et al.
Journal of Neuromuscular Diseases
|
April 11, 2023
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
Selena Trifunov, Daniel Natera-de Benito, Laura Carrera-García, et al.
Journal of Clinical Immunology
|
December 26, 2025
Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood
Yiyi Luo, Guillermo Argüello, Daniel Acevedo, et al.
Journal of Neuropathology and Experimental Neurology
|
July 27, 2025
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients
Gianmarco Severa, Sultan Bastu, Giovanni Umberto Borin, et al.
Annals of Clinical and Translational Neurology
|
May 30, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
Florencia Pérez-Vidarte, Berta Estévez-Arias, Leslie Matalonga, et al.
Journal of Neuromuscular Diseases
|
March 15, 2024
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, et al.
Pediatric Neurology
|
December 17, 2020
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
Daniel Natera-de Benito, Carlos Ortez, Cristina Jou, et al.
Page
of 5