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Vincent Laugel

Showing results (31-40 of 111) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 14, 2019
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3Pascal Sabouraud, Audrey Riquet, Marie-Aude Spitz, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|September 27, 2024
Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric NeurologyStéphanie Fontaine Carbonnel, Ivana Dabaj, Camille de Montferrand, et al.
Applied Health Economics and Health Policy|March 11, 2026
Cost-Effectiveness and Public Health Impact of Newborn Screening for Spinal Muscular Atrophy in FranceSebastien Eymere, Oyin Opeifa, Aurélie Meunier, et al.
Molecular Syndromology|January 8, 2015
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz SyndromeMathilde Huckert, Helen Mecili, Virginie Laugel-Haushalter, et al.
DNA Repair|March 11, 2008
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyWim J Kleijer, Vincent Laugel, Mark Berneburg, et al.
European Journal of Human Genetics : EJHG|January 10, 2008
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndromeVincent Laugel, Cecile Dalloz, Anne Stary, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 31, 2009
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damageTiziana Nardo, Roberta Oneda, Graciela Spivak, et al.
Molecular Cell|December 12, 2017
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 DegradationAlexey Epanchintsev, Federico Costanzo, Marc-Alexander Rauschendorf, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|December 3, 2014
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndromeCyril Gitiaux, Nathalie Blin-Rochemaure, Marie Hully, et al.
Cell Reports|May 10, 2018
Loss of Proteostasis Is a Pathomechanism in Cockayne SyndromeMarius Costel Alupei, Pallab Maity, Philipp Ralf Esser, et al.
Pageof 12

Showing results (31-40 of 111) with videos related to

Sort By:
Pageof 12
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 14, 2019
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3Pascal Sabouraud, Audrey Riquet, Marie-Aude Spitz, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|September 27, 2024
Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric NeurologyStéphanie Fontaine Carbonnel, Ivana Dabaj, Camille de Montferrand, et al.
Applied Health Economics and Health Policy|March 11, 2026
Cost-Effectiveness and Public Health Impact of Newborn Screening for Spinal Muscular Atrophy in FranceSebastien Eymere, Oyin Opeifa, Aurélie Meunier, et al.
Molecular Syndromology|January 8, 2015
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz SyndromeMathilde Huckert, Helen Mecili, Virginie Laugel-Haushalter, et al.
DNA Repair|March 11, 2008
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyWim J Kleijer, Vincent Laugel, Mark Berneburg, et al.
European Journal of Human Genetics : EJHG|January 10, 2008
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndromeVincent Laugel, Cecile Dalloz, Anne Stary, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 31, 2009
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damageTiziana Nardo, Roberta Oneda, Graciela Spivak, et al.
Molecular Cell|December 12, 2017
Cockayne's Syndrome A and B Proteins Regulate Transcription Arrest after Genotoxic Stress by Promoting ATF3 DegradationAlexey Epanchintsev, Federico Costanzo, Marc-Alexander Rauschendorf, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|December 3, 2014
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndromeCyril Gitiaux, Nathalie Blin-Rochemaure, Marie Hully, et al.
Cell Reports|May 10, 2018
Loss of Proteostasis Is a Pathomechanism in Cockayne SyndromeMarius Costel Alupei, Pallab Maity, Philipp Ralf Esser, et al.
Pageof 12