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Nicolas Deconinck

Showing results (61-70 of 79) with videos related to

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The Lancet. Neurology|September 22, 2023
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialBettina C Henzi, Simone Schmidt, Sara Nagy, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.
European Journal of Medical Genetics|July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disordersSebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephalyFrancesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.
Brain Communications|July 9, 2021
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophyRabah Ben Yaou, Pomi Yun, Ivana Dabaj, et al.
Neurology|February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled TrialUtkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
Pageof 8

Showing results (61-70 of 79) with videos related to

Sort By:
Pageof 8
The Lancet. Neurology|September 22, 2023
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialBettina C Henzi, Simone Schmidt, Sara Nagy, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.
European Journal of Medical Genetics|July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disordersSebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephalyFrancesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.
Molecular Genetics & Genomic Medicine|August 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsySarah Duerinckx, Julie Désir, Camille Perazzolo, et al.
Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.
Brain Communications|July 9, 2021
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophyRabah Ben Yaou, Pomi Yun, Ivana Dabaj, et al.
Neurology|February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled TrialUtkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
Pageof 8