ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy
Jonathan Marquez, Flavien Rouxel, Fatima E. It, Victor Couturier et autres
0 citationsHuman Genetics and Genomics Advances
Maxime Colmard
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12Publications signalées
76Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesEpilepsy research and treatmentRNA regulation and diseaseNeuroscience and Neuropharmacology ResearchRNA Research and Splicing
Publications récentes
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, Miriam Essid et autres
4 citationsNature Genetics
Isolated Fluid Enlargements of the Posterior Cranial Fossa: Antenatal Diagnosis and Postnatal Outcome: A Series of 53 Cases
Romane Brivet, F Fuchs, V. Letouzey, Ikram Taleb Arrada et autres
0 citationsJournal of Fetal Medicine
Efficacy and Safety of Plasmapheresis in Children With Acute Transverse or Flaccid Myelitis, and Guillain‐Barré Syndrome
Alix Fleurance, Laure Joseph, Laurène Dehoux, Christine Barnérias et autres
1 citationEuropean Journal of Neurology
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Benjamin Cogné, Miriam Essid, Maria Athanasiadou et autres
8 citationsmedRxiv
Prise en charge de l’hypertension intracrânienne idiopathique en pratique pédiatrique
Julie Piarroux, Arthur Coget, M.-C. Francois Heude, A. Roubertie et autres
0 citationsJournal de Pédiatrie et de Puériculture
GABRA2 ‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
Marie Adamo‐Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard et autres
2 citationsEpilepsia
ADCY5 ‐Mosaic Variants: A Diagnosis Not to Be Missed
Alice Innocenti, Emmanuel Roze, Florence Riant, Marie‐Céline François‐Heude et autres
5 citationsMovement Disorders Clinical Practice
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel et autres
52 citationsThe Lancet Regional Health - Europe
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Boris Keren, Florian Kraft et autres
0 citationsRWTH Publications (RWTH Aachen)
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, Miriam Essid et autres
0 citationsRWTH Publications (RWTH Aachen)
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus
Maxime Colmard, François Rivier, Gaëlle de Barry, Agathe Roubertie et autres
4 citationsDevelopmental Medicine & Child Neurology
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