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Mathieu Milh

Showing results (41-50 of 138) with videos related to

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Epilepsia|January 9, 2020
Open-label study to investigate the safety and efficacy of adjunctive perampanel in pediatric patients (4 to <12 years) with inadequately controlled focal seizures or generalized tonic-clonic seizuresAndras Fogarasi, Robert Flamini, Mathieu Milh, et al.
Epilepsy Research|March 15, 2015
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disabilityAnne-Lise Poulat, Dorothée Ville, Julitta de Bellescize, et al.
Journal of Medical Genetics|July 29, 2009
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasiaCécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, et al.
Molecular Genetics and Metabolism|February 7, 2012
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1Mathieu Milh, Ana Pop, Warsha Kanhai, et al.
European Journal of Nuclear Medicine and Molecular Imaging|May 21, 2020
Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsyStanislas Lagarde, Mohamed Boucekine, Aileen McGonigal, et al.
Human Molecular Genetics|December 21, 2023
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disabilityElham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, et al.
Epilepsia|February 19, 2010
Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessmentMelanie Jennesson, Mathieu Milh, Nathalie Villeneuve, et al.
Human Mutation|April 18, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burstCécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Werner mesomelic dysplasia with Hirschsprung diseaseAlice Goldenberg, Mathieu Milh, Pascal de Lagausie, et al.
Neuron|August 11, 2010
A conserved switch in sensory processing prepares developing neocortex for visionMatthew T Colonnese, Anna Kaminska, Marat Minlebaev, et al.
Pageof 14

Showing results (41-50 of 138) with videos related to

Sort By:
Pageof 14
Epilepsia|January 9, 2020
Open-label study to investigate the safety and efficacy of adjunctive perampanel in pediatric patients (4 to <12 years) with inadequately controlled focal seizures or generalized tonic-clonic seizuresAndras Fogarasi, Robert Flamini, Mathieu Milh, et al.
Epilepsy Research|March 15, 2015
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disabilityAnne-Lise Poulat, Dorothée Ville, Julitta de Bellescize, et al.
Journal of Medical Genetics|July 29, 2009
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasiaCécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, et al.
Molecular Genetics and Metabolism|February 7, 2012
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1Mathieu Milh, Ana Pop, Warsha Kanhai, et al.
European Journal of Nuclear Medicine and Molecular Imaging|May 21, 2020
Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsyStanislas Lagarde, Mohamed Boucekine, Aileen McGonigal, et al.
Human Molecular Genetics|December 21, 2023
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disabilityElham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, et al.
Epilepsia|February 19, 2010
Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessmentMelanie Jennesson, Mathieu Milh, Nathalie Villeneuve, et al.
Human Mutation|April 18, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burstCécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Werner mesomelic dysplasia with Hirschsprung diseaseAlice Goldenberg, Mathieu Milh, Pascal de Lagausie, et al.
Neuron|August 11, 2010
A conserved switch in sensory processing prepares developing neocortex for visionMatthew T Colonnese, Anna Kaminska, Marat Minlebaev, et al.
Pageof 14