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Neuromuscular Disorders : NMD
|
September 7, 2020
Gain and loss of abilities in type II SMA: A 12-month natural history study
Giorgia Coratti, Simona Lucibello, Maria C Pera, et al.
Annals of Clinical and Translational Neurology
|
May 2, 2024
Epilepsy in Duchenne and Becker muscular dystrophies
Jesus Alfonso Armijo Gómez, Miguel A Fernandez-Garcia, Ana Camacho, et al.
Acta Neuropathologica Communications
|
February 13, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
Adela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, et al.
Journal of Neuromuscular Diseases
|
May 20, 2026
Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort
Cristiane Araujo Martins Moreno, Tatiana Ribeiro Fernandes, Clara Gontijo Camelo, et al.
Neurology. Genetics
|
March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Francisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.
Journal of Neurology
|
February 3, 2023
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
Maryam Oskoui, John W Day, Nicolas Deconinck, et al.
Pediatric Neurology
|
June 4, 2024
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Daniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, et al.
Journal of Neurology
|
January 2, 2021
COVID-19 in children with neuromuscular disorders
Daniel Natera-de Benito, Sergio Aguilera-Albesa, Laura Costa-Comellas, et al.
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 CHRNA1
Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
The Lancet. Neurology
|
December 23, 2021
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Neuromuscular Disorders : NMD
|
September 7, 2020
Gain and loss of abilities in type II SMA: A 12-month natural history study
Giorgia Coratti, Simona Lucibello, Maria C Pera, et al.
Annals of Clinical and Translational Neurology
|
May 2, 2024
Epilepsy in Duchenne and Becker muscular dystrophies
Jesus Alfonso Armijo Gómez, Miguel A Fernandez-Garcia, Ana Camacho, et al.
Acta Neuropathologica Communications
|
February 13, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
Adela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, et al.
Journal of Neuromuscular Diseases
|
May 20, 2026
Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort
Cristiane Araujo Martins Moreno, Tatiana Ribeiro Fernandes, Clara Gontijo Camelo, et al.
Neurology. Genetics
|
March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Francisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.
Journal of Neurology
|
February 3, 2023
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
Maryam Oskoui, John W Day, Nicolas Deconinck, et al.
Pediatric Neurology
|
June 4, 2024
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Daniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, et al.
Journal of Neurology
|
January 2, 2021
COVID-19 in children with neuromuscular disorders
Daniel Natera-de Benito, Sergio Aguilera-Albesa, Laura Costa-Comellas, et al.
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 CHRNA1
Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
The Lancet. Neurology
|
December 23, 2021
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, et al.
Page
of 6