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Isabelle Desguerre

Showing results (121-130 of 235) with videos related to

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Journal of Inherited Metabolic Disease|June 11, 2011
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defectVassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, et al.
European Journal of Human Genetics : EJHG|November 4, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxiaBrian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|September 24, 2017
Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile DermatomyositisCyril Gitiaux, Claire Latroche, Michèle Weiss-Gayet, et al.
Orphanet Journal of Rare Diseases|September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic aciduriasMathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
Journal of Comparative Effectiveness Research|August 16, 2019
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE RegistryFrancesco Muntoni, Isabelle Desguerre, Michela Guglieri, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|December 13, 2023
Neurologic Outcomes and Quality of Life in Children After Extracorporeal Membrane OxygenationAlizée Michel, Meryl Vedrenne-Cloquet, Manoëlle Kossorotoff, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
BMC Medical Genomics|June 21, 2023
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasiaRomain Nicolle, Nami Altin, Karine Siquier-Pernet, et al.
European Journal of Endocrinology|November 25, 2010
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal careHelton Estrela Ramos, Melina Morandini, Aurore Carré, et al.
Cell Reports|November 22, 2018
AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular DystrophyGaëtan Juban, Marielle Saclier, Houda Yacoub-Youssef, et al.
Pageof 24

Showing results (121-130 of 235) with videos related to

Sort By:
Pageof 24
Journal of Inherited Metabolic Disease|June 11, 2011
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defectVassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, et al.
European Journal of Human Genetics : EJHG|November 4, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxiaBrian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|September 24, 2017
Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile DermatomyositisCyril Gitiaux, Claire Latroche, Michèle Weiss-Gayet, et al.
Orphanet Journal of Rare Diseases|September 25, 2013
Long-term neurological outcome of a cohort of 80 patients with classical organic aciduriasMathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, et al.
Journal of Comparative Effectiveness Research|August 16, 2019
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE RegistryFrancesco Muntoni, Isabelle Desguerre, Michela Guglieri, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|December 13, 2023
Neurologic Outcomes and Quality of Life in Children After Extracorporeal Membrane OxygenationAlizée Michel, Meryl Vedrenne-Cloquet, Manoëlle Kossorotoff, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
BMC Medical Genomics|June 21, 2023
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasiaRomain Nicolle, Nami Altin, Karine Siquier-Pernet, et al.
European Journal of Endocrinology|November 25, 2010
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal careHelton Estrela Ramos, Melina Morandini, Aurore Carré, et al.
Cell Reports|November 22, 2018
AMPK Activation Regulates LTBP4-Dependent TGF-β1 Secretion by Pro-inflammatory Macrophages and Controls Fibrosis in Duchenne Muscular DystrophyGaëtan Juban, Marielle Saclier, Houda Yacoub-Youssef, et al.
Pageof 24