المؤلفون: Jean-Baptiste Brunet de Courssou, Pauline Testard, Magali Sallansonnet-Froment, Marie-Laure Brechemier, Damien Ricard, Dimitri Psimaras, Mickaël Ferrand, Thibault Maillet, Patricia Depierre, Charlotte Ohlmann, Jean Capron, Isabelle Arnulf, Ana Gales

المصدر: Journal of Clinical Sleep Medicine. 19:837-841

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a722c657d0c780feae661e599839e90f
https://doi.org/10.5664/jcsm.10448

المؤلفون: Mickaël Ferrand, Cédric Baumann, Olivier Aron, Jean-Pierre Vignal, Jacques Jonas, Louise Tyvaert, Sophie Colnat-Coulbois, Laurent Koessler, Louis Maillard

المصدر: Neurology. 100:e2045-e2059

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8479b75aec3aea0eb11f66d769ca8768
https://doi.org/10.1212/wnl.0000000000207135

المؤلفون: Mickaël Ferrand, Cédric Baumann, Olivier Aron, Jean-Pierre Vignal, Louise Tyvaert, Sophie Colnat-Coulbois, Laurent Koessler, Louis Maillard

المصدر: Clinical Neurophysiology. 150:e157

مصطلحات موضوعية: Neurology, Physiology (medical), Neurology (clinical), Sensory Systems

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::29c84790473740d2ed0bb8e4210bf03d
https://doi.org/10.1016/j.clinph.2023.03.253

المؤلفون: Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford

المساهمون: Crow Y.J., Marshall H., Rice G.I., Seabra L., Jenkinson E.M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A.C.-H., Chiang D., Clifford D.B., Cordelli D.M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S.R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E.G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H.T., Hughes I., Jacob A., Jones E.A., Kumar R., Leventer R.J., MacDonald S., Maroofian R., Mehta S.G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C.A., Subramanian G.M., Talbot K., Thomas R.H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J.H., O'Keefe R.T., Badrock A.P.

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Gene mutation, ribosomopathy, Compound heterozygosity, Genetic analysis, Loss of heterozygosity, Leukoencephalopathy, Consanguinity, Leukoencephalopathies, Pathology, Molecular, Child, Zebrafish, Genetics (clinical), Genetics, Molecular pathology, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, SNORD118, Calcinosis, Middle Aged, 3. Good health, Child, Preschool, Female, Adult, Heterozygote, Adolescent, coats plu, Biology, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, RNA, Small Nucleolar, Genetic Association Studies, Aged, leukoencephalopathy with calcifications and cyst, Infant, Newborn, Infant, medicine.disease, Disease Models, Animal, 030104 developmental biology

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972
http://hdl.handle.net/11585/786787

المؤلفون: Guillemette Clément, Nicolas Carpentier, Mickaël Ferrand, Mylène Meyer, Laura Lavigne, Solène Frismand

المصدر: Revue Neurologique. 178:S136

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::63511e275de321ad0424e73a71c8474c
https://doi.org/10.1016/j.neurol.2022.02.439

المؤلفون: Louise Tyvaert, Mickaël Ferrand

المساهمون: Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de Recherche en Automatique de Nancy (CRAN), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL)

المصدر: 3èmes Journées de Neurophysiologie Clinique, JNC-Lille 2018
3èmes Journées de Neurophysiologie Clinique, JNC-Lille 2018, Jun 2018, Lille, France. ⟨10.1016/j.neucli.2018.05.013⟩

مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, Neurology, Physiology (medical), 05 social sciences, 0501 psychology and cognitive sciences, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), General Medicine, 030217 neurology & neurosurgery, 050105 experimental psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::259ccfec797a1bc778393df935e42582
https://hal.archives-ouvertes.fr/hal-01859654