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Vincent Laugel

Showing results (91-100 of 111) with videos related to

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Orphanet Journal of Rare Diseases|September 13, 2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatmentIsabelle Desguerre, Rémi Barrois, Frédérique Audic, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
European Journal of Neurology|August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral NeuropathyPauline Jaubert, Camille Loret, Tanya Stojkovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, 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.
Pageof 12

Showing results (91-100 of 111) with videos related to

Sort By:
Pageof 12
Orphanet Journal of Rare Diseases|September 13, 2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatmentIsabelle Desguerre, Rémi Barrois, Frédérique Audic, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
European Journal of Neurology|August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral NeuropathyPauline Jaubert, Camille Loret, Tanya Stojkovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, 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.
Pageof 12