المؤلفون: Florence Esselin, Kevin Mouzat, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Elisa De la Cruz, Emilien Bernard, Emmeline Lagrange, Véronique Danel, Sébastien Alphandery, Laura Labar, Erika Nogué, Marie-Christine Picot, Serge Lumbroso, William Camu

المصدر: Frontiers in Neuroscience, Vol 14 (2020)

مصطلحات موضوعية: ALS, C9ORF72, clinical phenotype, familial, cohort, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2020.00316/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/6806aa5c2f4d48209e98685564e94abd

المؤلفون: Kevin Mouzat, Aleksandra Chudinova, Anne Polge, Jovana Kantar, William Camu, Cédric Raoul, Serge Lumbroso

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 16, p 3858 (2019)

مصطلحات موضوعية: Liver X receptors, cholesterol, oxysterols, neuroinflammation, amyotrophic lateral sclerosis, Alzheimer’s disease, multiple sclerosis, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/20/16/3858; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/bad421c488164296b0ba6d857136fdc0

المؤلفون: Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron

المصدر: PLoS Genetics, Vol 10, Iss 9, p e1004580 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4154644?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/baff5fce8b7e495e86bb1abb116c6895

المؤلفون: Claire Guissart, Anne Polge, Nelly Durand, Ania Miret, Serge Lumbroso, Christine Francannet, Kevin Mouzat

المصدر: Clinical Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0ff46d10c7da6fba94ae03f58cbe7ac7
https://doi.org/10.1111/cge.14347

المؤلفون: Guillaume Taieb, Serge Lumbroso, William Camu, Nicolas Pageot, Claire Guissart, Anne Polge, Kevin Mouzat, Florence Esselin, Elisa de la Cruz

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 23:458-461

مصطلحات موضوعية: Proband, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Peripheral facial palsy, business.industry, animal diseases, SOD1, nutritional and metabolic diseases, Compound heterozygosity, medicine.disease, DNA sequencing, nervous system diseases, nervous system, Neurology, Mutation (genetic algorithm), Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5dc71abc6c5662ed9865cd77175bb3d2
https://doi.org/10.1080/21678421.2021.1990344

المؤلفون: Anne Polge, Claire Guissart, Jovana Kantar, Kevin Mouzat, Paul Vilquin, Cédric Raoul, Baptiste Louveau, Serge Lumbroso

المساهمون: Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratoire de Biochimie [CHRU Nîmes], Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Biopathologie [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Raoul, Cédric, Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.20738. ⟨10.1038/s41598-020-77716-5⟩

مصطلحات موضوعية: endocrine system diseases, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Nonsense-mediated decay, SOD1, Mutation, Missense, lcsh:Medicine, Biology, RNA decay, Article, 03 medical and health sciences, 0302 clinical medicine, Superoxide Dismutase-1, medicine, Genetics, Missense mutation, Humans, RNA, Messenger, Motor neuron disease, Amyotrophic lateral sclerosis, lcsh:Science, Gene, 030304 developmental biology, 0303 health sciences, Messenger RNA, Multidisciplinary, Molecular medicine, Amyotrophic Lateral Sclerosis, Medical genetics, lcsh:R, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, medicine.disease, humanities, 3. Good health, Nonsense Mediated mRNA Decay, Codon, Nonsense, Codon, Terminator, lcsh:Q, Haploinsufficiency, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e83399277b8f519bfa0d6b8a75380a
http://link.springer.com/article/10.1038/s41598-020-77716-5

المؤلفون: Elisa, De La Cruz, Claire, Guissart, Florence, Esselin, Anne, Polge, Nicolas, Pageot, Guillaume, Taieb, Serge, Lumbroso, William, Camu, Kevin, Mouzat

المصدر: Amyotrophic lateral sclerosisfrontotemporal degeneration. 23(5-6)

مصطلحات موضوعية: Superoxide Dismutase-1, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Mutation, Humans, Child, Phylogeny

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::82d58fdfdcabcebdfc8e4ca629c232ea
https://pubmed.ncbi.nlm.nih.gov/34668453

المؤلفون: Nicolas Pageot, Serge Lumbroso, Elisa De La Cruz, Emilien Bernard, Florence Esselin, Laura Labar, Raul Juntas-Morales, Emmeline Lagrange, Kevin Mouzat, Veronique Danel, Anne Polge, Erika Nogue, William Camu, Sebastien Alphandery, Marie-Christine Picot

المساهمون: Salvy-Córdoba, Nathalie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Laboratoire d'Explorations Fonctionnelles du Système Nerveux Central, CHU Grenoble, Centre SLA de Lille, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Roger Salengro [Lille], CIC Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Frontiers in Neuroscience
Frontiers in Neuroscience, 2020, 14, ⟨10.3389/fnins.2020.00316⟩
Frontiers in Neuroscience, Vol 14 (2020)
Frontiers in Neuroscience, Frontiers, 2020, 14, ⟨10.3389/fnins.2020.00316⟩

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, C9ORF72, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, C9orf72, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Medicine, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Amyotrophic lateral sclerosis, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Original Research, business.industry, General Neuroscience, familial, cohort, clinical phenotype, medicine.disease, 3. Good health, 030104 developmental biology, Sample size determination, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Anticipation (genetics), Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Age of onset, ALS, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Sex ratio, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98da74cdfcbe832a8d1071d032866837
https://pubmed.ncbi.nlm.nih.gov/32410933

المؤلفون: Anne Polge, Serge Lumbroso, Aleksandra V Chudinova, Jovana Kantar, Cédric Raoul, Kevin Mouzat, William Camu

المساهمون: Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Raoul, Cédric, Institut des Neurosciences de Montpellier (INM)

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2019, 20 (16), pp.3858. ⟨10.3390/ijms20163858⟩
International Journal of Molecular Sciences, Vol 20, Iss 16, p 3858 (2019)

مصطلحات موضوعية: amyotrophic lateral sclerosis, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Review, Ligands, multiple sclerosis, Liver X receptors, neuroinflammation, lcsh:Chemistry, Myelin, 0302 clinical medicine, Medicine, Homeostasis, lcsh:QH301-705.5, Spectroscopy, 0303 health sciences, Brain, Neurodegenerative Diseases, General Medicine, Alzheimer's disease, Computer Science Applications, medicine.anatomical_structure, oxysterols, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], lipids (amino acids, peptides, and proteins), Disease Susceptibility, Alzheimer’s disease, Oxysterol, Central nervous system, Neuroprotection, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Structure-Activity Relationship, Animals, Humans, [CHIM]Chemical Sciences, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Physical and Theoretical Chemistry, Liver X receptor, Molecular Biology, Neuroinflammation, 030304 developmental biology, business.industry, Multiple sclerosis, Organic Chemistry, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, cholesterol, medicine.disease, Lipid Metabolism, lcsh:Biology (General), lcsh:QD1-999, Nuclear receptor, business, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dfb411e562e7c8c07202d081bfb9489
https://hal.umontpellier.fr/hal-02566612/document

المؤلفون: Estelle Colin, Christel Thauvin-Robinet, Bernard Jost, Hélène Dollfus, Marie-Ange Delrue, Dominique Bonneau, Marjolaine Willems, Christine Francannet, Claire Feger, Michèle Mathieu-Dramard, Patrick Edery, Martine Doco-Fenzy, Laurence Olivier-Faivre, Véronique Geoffroy, Jean-Louis Mandel, Muriel Philipps, Serge Vicaire, Bérénice Doray, Alice Goldenberg, Magalie Barth, Julien Thevenon, Julia Lauer, Didier Lacombe, Gaetan Lesca, David Geneviève, Angélique Quartier, Dominique Martin-Coignard, Yvan Herenger, Serge Lumbroso, Salima El-Chehadeh, Bénédicte Gérard, Mélanie Fradin, Gilles Morin, Jean Muller, Yves Alembik, Sylvie Sukno, Amélie Piton, Nicolas Haumesser, Claire Redin, Bertrand Isidor, Elisabeth Flori, Valérie Drouin-Garraud, Pierre Sarda, Alice Masurel-Paulet, Michael Dumas, Stéphanie Le Gras, Anne Polge

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, autism, Biology, DNA sequencing, Young Adult, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), ATRX, causative, Genetic heterogeneity, Infant, Newborn, high-throughput sequencing, High-Throughput Nucleotide Sequencing, Infant, Sequence Analysis, DNA, Molecular diagnostics, medicine.disease, FMR1, Molecular Diagnostic Techniques, intellectual disability, Child, Preschool, Autism, Cognitive and Behavioural Genetics, Female, CUL4B, mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fac5fb119f1f718294e7ee05ab1450
http://europepmc.org/articles/PMC4215287