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Vincent Laugel

Showing results (81-90 of 111) with videos related to

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Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
EMBO Molecular Medicine|June 6, 2020
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stressAriane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 22, 2023
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or typeFrédérique Audic, Sonia M Dubois, Julien Durigneux, et al.
Acta Neuropathologica Communications|July 9, 2022
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesClémence Labasse, Guy Brochier, Ana-Lia Taratuto, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 28, 2025
Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey)Sarah Barrière, Véronique Manel, Christine Barnerias, et al.
Orphanet Journal of Rare Diseases|June 14, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational studyFrédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, et al.
Pageof 12

Showing results (81-90 of 111) with videos related to

Sort By:
Pageof 12
Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
EMBO Molecular Medicine|June 6, 2020
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stressAriane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 22, 2023
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or typeFrédérique Audic, Sonia M Dubois, Julien Durigneux, et al.
Acta Neuropathologica Communications|July 9, 2022
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesClémence Labasse, Guy Brochier, Ana-Lia Taratuto, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 28, 2025
Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey)Sarah Barrière, Véronique Manel, Christine Barnerias, et al.
Orphanet Journal of Rare Diseases|June 14, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational studyFrédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, et al.
Pageof 12