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Therapie
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December 17, 2022
Paediatric drug development and evaluation: Existing challenges and recommendations
Florentia Kaguelidou, Maria Ouèdraogo, Jean-Marc Treluyer, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
Mireille Cossée, Laurence Faivre, Christophe Philippe, et al.
Neuromuscular Disorders : NMD
|
November 28, 2017
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis
Simone Schmidt, Patricia Hafner, Andrea Klein, et al.
Journal of Neuromuscular Diseases
|
July 8, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France
Lamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, et al.
JAMA Network Open
|
October 8, 2025
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
Juliette Ropars, Claude Cances, Rocio Garcia-Uzquiano, et al.
Neurology
|
January 13, 2025
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study
Hugh J McMillan, Giovanni Baranello, Michelle A Farrar, et al.
Pediatric Neurology
|
August 2, 2024
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study
Sarah Baer, Audrey Schalk, Marguerite Miguet, et al.
Annals of Clinical and Translational Neurology
|
December 28, 2020
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Mélanie Annoussamy, Andreea M Seferian, Aurore Daron, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype
Laurent Servais, Marie Montus, Caroline Le Guiner, et al.
Therapie
|
January 1, 2026
Accelerating recruitment in clinical trials: A strategic challenge
Dominique Deplanque, Ariane Galaup, Christine Trillou, et al.
Page
of 12
Search research articles
Search
Showing results (61-70 of 111) with videos related to
Sort By:
Page
of 12
Therapie
|
December 17, 2022
Paediatric drug development and evaluation: Existing challenges and recommendations
Florentia Kaguelidou, Maria Ouèdraogo, Jean-Marc Treluyer, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
Mireille Cossée, Laurence Faivre, Christophe Philippe, et al.
Neuromuscular Disorders : NMD
|
November 28, 2017
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis
Simone Schmidt, Patricia Hafner, Andrea Klein, et al.
Journal of Neuromuscular Diseases
|
July 8, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France
Lamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, et al.
JAMA Network Open
|
October 8, 2025
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
Juliette Ropars, Claude Cances, Rocio Garcia-Uzquiano, et al.
Neurology
|
January 13, 2025
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study
Hugh J McMillan, Giovanni Baranello, Michelle A Farrar, et al.
Pediatric Neurology
|
August 2, 2024
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study
Sarah Baer, Audrey Schalk, Marguerite Miguet, et al.
Annals of Clinical and Translational Neurology
|
December 28, 2020
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Mélanie Annoussamy, Andreea M Seferian, Aurore Daron, et al.
Journal of Neuromuscular Diseases
|
November 19, 2016
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype
Laurent Servais, Marie Montus, Caroline Le Guiner, et al.
Therapie
|
January 1, 2026
Accelerating recruitment in clinical trials: A strategic challenge
Dominique Deplanque, Ariane Galaup, Christine Trillou, et al.
Page
of 12