Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Anne De Saint-Martin"'
Autor:
Sylvain Rheims, Vania Herbillon, Ségolène Gaillard, Catherine Mercier, Nathalie Villeuve, Frédéric Villéga, Claude Cances, Pierre Castelnau, Silvia Napuri, Anne de Saint‐Martin, Stéphane Auvin, Sylvie Nguyen The Tich, Patrick Berquin, Julitta deBellecize, Mathieu Milh, Pascal Roy, Alexis Arzimanoglou, Jacques Bodennec, Laurent Bezin, Behrouz Kassai, the investigators of the AGPI study group
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 582-591 (2024)
Abstract Background Attention‐deficit hyperactivity disorder (ADHD) is a frequent comorbidity in children with epilepsy, which management mostly relies on the usual treatments of ADHD, especially methylphenidate. Supplementation with polyunsaturate
Externí odkaz:
https://doaj.org/article/03fdfbd8a42046a6802ce5d305b1cc28
Autor:
Florian Lamy, Maria-Paola Valenti-Hirsch, Lucas Gauer, Bénédicte Gérard, Mohamed Obeid, Anne de Saint-Martin, Vera Dinkelacker, Sarah Baer, Edouard Hirsch
Publikováno v:
Epilepsy & Behavior Reports, Vol 19, Iss , Pp 100555- (2022)
“Generalized Onset with Focal Evolution” (GOFE) is an underrecognized seizure type defined by an evolution from generalized onset to focal activity during the same ictal event. We aimed to discuss electroclinical aspects of GOFE and to emphasize
Externí odkaz:
https://doaj.org/article/3456aa68db204b8d82c20b18799f52b1
Autor:
Gianluca D'Onofrio, Mathieu Kuchenbuch, Caroline Hachon-Le Camus, Béatrice Desnous, Véronique Staath, Sylvia Napuri, Dorothée Ville, Jean-Michel Pedespan, Anne Lépine, Claude Cances, Anne de Saint-Martin, Théo Teng, Nicole Chemaly, Mathieu Milh, Nathalie Villeneuve, Rima Nabbout
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Objective: To assess adverse events (AEs) and efficacy of add-on cannabidiol (CBD) with a slower titration protocol in pediatric clinical practice.Methods: We conducted a prospective, open-label, multicenter study in seven French reference centers fo
Externí odkaz:
https://doaj.org/article/946741ae3acd4014b6742f9e65a17c3e
Autor:
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, Nael Nadif Kasri
Publikováno v:
Human Molecular Genetics, 32, 14, pp. 2373-2385
Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on neuronal network dynamics and homeostatic plasticity in human-induced pluripotent stem cell-derived
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd3b86c716e243a79dec03933a9e66
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a
Autor:
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Publikováno v:
Clinical Genetics. 103:346-351
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0044e3668fcae4379601c48d21949e3
https://doi.org/10.1111/cge.14264
https://doi.org/10.1111/cge.14264
Autor:
Marie‐Laure Girardin, Thomas Flamand, Ombeline Roignot, Marie‐Thérèse Abi Warde, Véronique Mutschler, Paul Voulleminot, Max Guillot, Vera Dinkelacker, Anne De Saint‐Martin
Publikováno v:
Epilepsia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d7220757a5c8bfdc9d247b457c1f965
https://doi.org/10.1111/epi.17591
https://doi.org/10.1111/epi.17591
Autor:
Ignacio Briceño, Frédéric Ebstein, Alberto Gómez, Heidi Cope, Wallid Deb, Krzysztof Szczaluba, Hutton M. Kearney, Dominique Bonneau, Elke Krüger, Marie Vincent, Jill A. Rosenfeld, Karin E. M. Diderich, Dominique Bourgeois, Kay Metcalfe, Bryce A. Mendelssohn, Magalie Barth, Solène Conrad, Alanna Strong, Patrick R. Blackburn, Amanda Gerard, McKinsey L. Goodenberger, Benjamin Cogné, Geneviève Baujat, Caroline Camby, Thomas Besnard, Natasha L. Rudy, Karin Dahan, Estelle Colin, Carlos A. Bacino, Caleb Bupp, Christel Thauvin-Robinet, Yolande van Bever, Rafał Płoski, Anne de Saint Martin, Johannes A. Mayr, Ingrid Bader, Yong-Hui Jiang, Virginie Vignard, Kathryn Warren, Judith D. Ranells, Yves Alembik, Joanna Kennedy, Stéphane Bézieau, Bertrand Isidor, Anna C.E. Hurst, Amélie Piton, Sébastien Küry, Ange-Line Bruel, PaweƗ Stankiewicz, Ingrid Scurr, Anja Brehm
Publikováno v:
Genetics in Medicine, 24(1), 179-191. Lippincott Williams & Wilkins
Purpose: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe93b9215b6df69ad91303661d9126b0
https://doi.org/10.1016/j.gim.2021.09.005
https://doi.org/10.1016/j.gim.2021.09.005
Autor:
Gaofeng Zhu, Mihaly Badonyi, Lina Franklin, Luis Seabra, Gillian I. Rice, null Anne-Boland-Auge, Jean-François Deleuze, Salima El-Chehadeh, Mathieu Anheim, Anne de Saint-Martin, Sandra Pellegrini, Joseph A. Marsh, Yanick J. Crow, Marie-Therese El-Daher
Publikováno v:
Zhu, G, Badonyi, M, Franklin, L, Seabra, L, Rice, G I, Boland-Auge, A, Deleuze, J-F, El Chehadeh, S, Anheim, M, de Saint-Martin, A, Pellegrini, S, Marsh, J A, Crow, Y J & El-Daher, M-T 2023, ' Type I interferonopathy due to a homozygous loss-of-inhibitory-function mutation in STAT2 ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-023-01445-3
Purpose STAT2 is both an effector and negative regulator of type I interferon (IFN-I) signalling. We describe the characterization of a novel homozygous missense STAT2 substitution in a patient with a type I interferonopathy. Methods Whole-genome seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d153bd2735381f325ed4a0faafe9e68
https://www.pure.ed.ac.uk/ws/files/326045768/s10875_023_01445_3.pdf
https://www.pure.ed.ac.uk/ws/files/326045768/s10875_023_01445_3.pdf
Autor:
Marie-Laure Girardin, Thomas Flamand, Ombeline Roignot, Marie-Thérèse Abi Warde, Véronique Mutschler, Paul Voulleminot, Max Guillot, Vera Dinkelacker, Anne de Saint Martin
Publikováno v:
Clinical Neurophysiology. 150:e141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56bf7c507dfd9ad068c983e3332d5f79
https://doi.org/10.1016/j.clinph.2023.03.208
https://doi.org/10.1016/j.clinph.2023.03.208
Autor:
Pierre-Yves, Maillard, Sarah, Baer, Élise, Schaefer, Béatrice, Desnous, Nathalie, Villeneuve, Anne, Lépine, Alexandre, Fabre, Caroline, Lacoste, Salima, El Chehadeh, Amélie, Piton, Louise Frances, Porter, Caroline, Perriard, Marie-Thérèse Abi, Wardé, Marie-Aude, Spitz, Vincent, Laugel, Gaëtan, Lesca, Audrey, Putoux, Dorothée, Ville, Cyril, Mignot, Delphine, Héron, Rima, Nabbout, Giulia, Barcia, Marlène, Rio, Agathe, Roubertie, Pierre, Meyer, Véronique, Paquis-Flucklinger, Olivier, Patat, Jérémie, Lefranc, Marion, Gerard, Julietta, de Bellescize, Laurent, Villard, Anne, De Saint Martin, Mathieu, Milh
Publikováno v:
EpilepsiaREFERENCES. 63(10)
γ-Aminobutyric acid (GABA)We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABAWe gathered the reported patients in three epileptic phenotypes: 15 patients with fever-related epilepsy (40%), 11 with ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::06cb7b9d7c7192c6750e67d326e49040
https://pubmed.ncbi.nlm.nih.gov/35718920
https://pubmed.ncbi.nlm.nih.gov/35718920