المؤلفون: Thomas, Quentin, Coarelli, Giulia, Heinzmann, Anna, Le Ber, Isabelle, del Mar Amador, Maria, Durr, Alexandra

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0896-6273 ; Neuron ; https://hal.sorbonne-universite.fr/hal-03500860Test ; Neuron, 2021, 109 (12), pp.1945-1946. ⟨10.1016/j.neuron.2021.04.010⟩.

مصطلحات موضوعية: MESH: Amyotrophic Lateral Sclerosis, MESH: DNA Repeat Expansion, MESH: Frontotemporal Dementia, MESH: Humans, MESH: Huntingtin Protein, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34139183; hal-03500860; https://hal.sorbonne-universite.fr/hal-03500860Test; https://hal.sorbonne-universite.fr/hal-03500860/documentTest; https://hal.sorbonne-universite.fr/hal-03500860/file/Thomas%20et%20al.%20-%202021%20-%20Questioning%20the%20causality%20of%20HTT%20CAGTest-repeat%20expans.pdf; PUBMED: 34139183

الإتاحة: https://doi.org/10.1016/j.neuron.2021.04.010Test
https://hal.sorbonne-universite.fr/hal-03500860Test
https://hal.sorbonne-universite.fr/hal-03500860/documentTest
https://hal.sorbonne-universite.fr/hal-03500860/file/Thomas%20et%20al.%20-%202021%20-%20Questioning%20the%20causality%20of%20HTT%20CAGTest-repeat%20expans.pdf

المؤلفون: Florian, Rahel, Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario, Vijfhuizen, Lisanne, Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp, Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Alexandre, Mathieu, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Leguern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark, Bahlo, Melanie, Gecz, Jozef, Corbett, Mark, Tijssen, Marina, van den Maagdenberg, Arn, Depienne, Christel

المساهمون: Institute of Human Genetics - Institut für Humangenetik Essen, Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen Essen, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Amsterdam Neuroscience Pays-Bas, Vrije Universiteit Amsterdam Amsterdam (VU)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-VU University Medical Center Amsterdam, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne Cologne (CMMC), University Hospital of Cologne Cologne, Cologne Center for Genomics Cologne (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Centre de référence des épilepsies rares CHRU Strasbourg (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie Strasbourg, Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), School of Biological Sciences Adelaïde, University of Adelaide, Goethe University Frankfurt, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital Berlin, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), South Australian Health and Medical Research Institute Adelaide (SAHMRI), University Medical Center Groningen Groningen (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the “Investissements d’Avenir” programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: Neurodegenerative diseases, Neurological disorders, Epilepsy, Genomic instability, MESH: Adolescent, MESH: Adult, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Young Adult, MESH: Aged, MESH: Chromosome Mapping, MESH: DNA Repeat Expansion, MESH: Epilepsies, Myoclonic/genetics, MESH: Female, MESH: Humans, MESH: Introns, MESH: Male, MESH: Membrane Proteins/genetics, MESH: Middle Aged, MESH: Pedigree, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31664039; pasteur-02562487; https://pasteur.hal.science/pasteur-02562487Test; https://pasteur.hal.science/pasteur-02562487/documentTest; https://pasteur.hal.science/pasteur-02562487/file/Unstable%20TTTTATTTCA%20expansions%20in%20MARCH6%20are%20associated.pdfTest; PUBMED: 31664039; PUBMEDCENTRAL: PMC6820781

الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
https://pasteur.hal.science/pasteur-02562487Test
https://pasteur.hal.science/pasteur-02562487/documentTest
https://pasteur.hal.science/pasteur-02562487/file/Unstable%20TTTTATTTCA%20expansions%20in%20MARCH6%20are%20associated.pdfTest

المؤلفون: Kun-Rodrigues, Celia, Ross, Owen, A, Orme, Tatiana, Shepherd, Claire, Parkkinen, Laura, Darwent, Lee, Hernandez, Dena, Ansorge, Olaf, Clark, Lorraine, N, Honig, Lawrence, S, Marder, Karen, Lemstra, Afina, Scheltens, Philippe, van der Flier, Wiesje, Louwersheimer, Eva, Holstege, Henne, Rogaeva, Ekaterina, St George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Barber, Imelda, Braae, Anne, Brown, Kristelle, Morgan, Kevin, Maetzler, Walter, Berg, Daniela, Troakes, Claire, Al-Sarraj, Safa, Lashley, Tammaryn, Holton, Janice, Compta, Yaroslau, van Deerlin, Vivianna, Trojanowski, John, Q, Serrano, Geidy, E, Beach, Thomas, G, Clarimon, Jordi, Lleó, Alberto, Morenas-Rodríguez, Estrella, Lesage, Suzanne, Galasko, Douglas, Masliah, Eliezer, Santana, Isabel, Diez, Monica, Pastor, Pau, Tienari, Pentti, J, Myllykangas, Liisa, Oinas, Minna, Revesz, Tamas, Lees, Andrew, Boeve, Brad, F, Petersen, Ronald, C, Ferman, Tanis, J, Escott-Price, Valentina, Graff-Radford, Neill, Cairns, Nigel, J, Morris, John, C, Stone, David, J, Pickering-Brown, Stuart, Mann, David, Dickson, Dennis, W, Halliday, Glenda, M, Singleton, Andrew, Guerreiro, Rita, Bras, Jose, St. George-Hyslop, Peter

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), This work was supported in part by the National Institutes of Neurological Disease and Stroke. Jose Bras and RitaGuerreiro are supported by fellowships from the Alzheimer’s Society. Tatiana Orme is supported by a scholarshipfrom the Lewy Body Society. For the neuropathologically confirmed samples from Australia, tissues were receivedfrom the Sydney Brain Bank, which is supported by Neuroscience Research Australia and the University of NewSouth Wales. This study was also partially funded by the Wellcome Trust, Medical Research Council, CanadianInstitutes of Health Research, and Ontario Research Fund. The Nottingham Genetics Group is supported by ARUKand The Big Lottery Fund. The effort from Columbia University was supported by the Taub Institute, the PanasciFund, the Parkinson’s Disease Foundation, and NIH grants NS060113 (Dr Clark), P50AG008702 (P.I. Scott Small),P50NS038370 (P.I.R. Burke), and UL1TR000040 (P.I.H. Ginsberg). Dr Ross is supported by the Michael J. FoxFoundation for Parkinson’s Research, NINDS R01# NS078086. The Mayo Clinic Jacksonville is a Morris K. UdallParkinson’s Disease Research Center of Excellence (NINDS P50 #NS072187) and is supported by The LittleFamily Foundation and by the Mangurian Foundation Program for Lewy Body Dementia research and theAlzheimer Disease Research Center (P50 AG016547). The work from the Mayo Clinic Rochester is supported bythe National Institute on Aging (P50 AG016574 and U01 AG006786). This work has received support from TheQueen Square Brain Bank at the UCL Institute of Neurology, where Dr Lashley is funded by an ARUK seniorfellowship. Some of the tissue samples studied were provided by the MRC London Neurodegenerative DiseasesBrain Bank and the Brains for Dementia Research project (funded by Alzheimer’s Society and ARUK). Thisresearch was supported in part by both the NIHR UCLH Biomedical Research Centre and the Queen SquareDementia Biomedical Research Unit. This work was supported in part by the Intramural Research Program of theNational Institute on Aging, National Institutes of Health, Department of Health and Human Services, projectAG000951-12. The University of Pennsylvania case collection is funded by the Penn Alzheimer’s Disease CoreCenter (AG10124) and the Penn Morris K. Udall Parkinson’s Disease Research Center (NS053488). The authorswould like to thank the Exome Aggregation Consortium and the groups that provided exome variant data forcomparison. A full list of contributing groups can be found at http://exac.broadinstitute.org/aboutTest. Tissue samplesfrom UCSD are supported by NIH grant AG05131. The authors thank the brain bank GIE NeuroCEB, the Frenchprogram “Investissements d’avenir” (ANR-10-IAIHU-06). Dr Tienari and Dr Myllykangas are supported by theHelsinki University Central Hospital, the Folkhälsan Research Foundation and the Finnish Academy. This workwas in part supported by the Canadian Consortium on Neurodegeneration in Aging (ER)., ANR-10-IAHU-0006,IHU-A-ICM,Institut de Neurosciences Translationnelles de Paris(2010)

المصدر: ISSN: 0197-4580 ; Neurobiology of Aging ; https://hal.sorbonne-universite.fr/hal-04590470Test ; Neurobiology of Aging, 2017, 49, pp.214.e13-214.e15. ⟨10.1016/j.neurobiolaging.2016.08.023⟩.

مصطلحات موضوعية: C9orf72, Dementia with Lewy bodies (DLB), Genetic screen, MESH: C9orf72 Protein, MESH: Cohort Studies, MESH: DNA Repeat Expansion, MESH: Genetic Association Studies, MESH: Humans, MESH: Lewy Body Disease, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27666590; hal-04590470; https://hal.sorbonne-universite.fr/hal-04590470Test; https://hal.sorbonne-universite.fr/hal-04590470/documentTest; https://hal.sorbonne-universite.fr/hal-04590470/file/nihms826260.pdfTest; PUBMED: 27666590; PUBMEDCENTRAL: PMC5154872

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2016.08.023Test
https://hal.sorbonne-universite.fr/hal-04590470Test
https://hal.sorbonne-universite.fr/hal-04590470/documentTest
https://hal.sorbonne-universite.fr/hal-04590470/file/nihms826260.pdfTest

المؤلفون: Thomas, Quentin, Coarelli, Giulia, Heinzmann, Anna, Le Ber, Isabelle, del Mar Amador, Maria, Durr, Alexandra

المساهمون: Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Gestionnaire, Hal Sorbonne Université

المصدر: Neuron
Neuron, 2021, 109 (12), pp.1945-1946. ⟨10.1016/j.neuron.2021.04.010⟩

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, MESH: Humans, mental disorders, MESH: Huntingtin Protein, MESH: DNA Repeat Expansion, MESH: Frontotemporal Dementia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Amyotrophic Lateral Sclerosis, nervous system diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1398::7a30cadbe590ecb47f37cbf96e34b703Test
https://hal.sorbonne-universite.fr/hal-03500860/documentTest

المؤلفون: Ross, Jay, P., Leblond, Claire, S., Laurent, Sandra, B., Spiegelman, Dan, Dionne-Laporte, Alexandre, Camu, William, Dupré, Nicolas, Dion, Patrick, A., Rouleau, Guy, A.

المساهمون: McGill University = Université McGill Montréal, Canada, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), CHU de Québec–Université Laval, Université Laval Québec (ULaval), Faculté de médecine de l'Université Laval Québec (ULaval), Department of Neurology and Neurosurgery Montreal, Montreal Neurological Institute and Hospital, McGill University = Université McGill Montréal, Canada -McGill University = Université McGill Montréal, Canada, Jay Ross has received a doctoral student fellowship from the ALS Society of Canada and a Canadian Institutes of Health Research Frederick Banting & Charles Best Canada Graduate Scholarship (FRN 159279). We thank the ALS Society of Canada, the Canadian Institutes of Health Research, and Brain Canada for research funding.

المصدر: ISSN: 1364-6745.

مصطلحات موضوعية: ALS, C9orf72 expansion, Oligogenicity, Variant severity, MESH: Adult, MESH: Aged, MESH: Canada, MESH: Cohort Studies, MESH: DNA Repeat Expansion, MESH: Female, MESH: France, MESH: Frontotemporal Dementia, MESH: Genetic Variation, MESH: Humans, MESH: Male, MESH: Middle Aged, MESH: Multifactorial Inheritance, MESH: Sequence Analysis, DNA, MESH: Amyotrophic Lateral Sclerosis, MESH: C9orf72 Protein, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32385536; hal-03564841; https://hal.umontpellier.fr/hal-03564841Test; PUBMED: 32385536

الإتاحة: https://doi.org/10.1007/s10048-020-00612-7Test
https://hal.umontpellier.fr/hal-03564841Test

المؤلفون: Patrick A. Dion, William Camu, Claire S. Leblond, Guy A. Rouleau, Nicolas Dupré, Alexandre Dionne-Laporte, Dan Spiegelman, Sandra B. Laurent, Jay P. Ross

المساهمون: McGill University = Université McGill [Montréal, Canada], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), CHU de Québec–Université Laval, Université Laval [Québec] (ULaval), Faculté de médecine de l'Université Laval [Québec] (ULaval), Department of Neurology and Neurosurgery [Montreal], Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Jay Ross has received a doctoral student fellowship from the ALS Society of Canada and a Canadian Institutes of Health Research Frederick Banting & Charles Best Canada Graduate Scholarship (FRN 159279). We thank the ALS Society of Canada, the Canadian Institutes of Health Research, and Brain Canada for research funding.

المصدر: neurogenetics
neurogenetics, 2020, 21 (3), pp.227-242. ⟨10.1007/s10048-020-00612-7⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Multifactorial Inheritance, MESH: Sequence Analysis, DNA, MESH: DNA Repeat Expansion, Pathogenesis, Cohort Studies, C9orf72 expansion, 0302 clinical medicine, C9orf72, MESH: Genetic Variation, Amyotrophic lateral sclerosis, MESH: Cohort Studies, Genetics (clinical), MESH: Amyotrophic Lateral Sclerosis, Genetics, MESH: Aged, DNA Repeat Expansion, MESH: Middle Aged, Variant severity, Oligogenic Inheritance, Middle Aged, Frontotemporal Dementia, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], France, MESH: C9orf72 Protein, Adult, Canada, MESH: Frontotemporal Dementia, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, MESH: Canada, medicine, Humans, Gene, Aged, MESH: Humans, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Genetic Variation, MESH: Adult, Sequence Analysis, DNA, medicine.disease, Molecular medicine, Human genetics, MESH: Male, Oligogenicity, MESH: France, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Disease Presentation, ALS, MESH: Multifactorial Inheritance, MESH: Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718283b11f85b322bab4041e3dc3c512Test
https://hal.umontpellier.fr/hal-03564841Test

المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Nature Communications
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9

مصطلحات موضوعية: Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec2c892a3045ae0244d68ba44823587aTest
http://edoc.mdc-berlin.de/20584/2/20584suppl.zipTest

المؤلفون: Akbari, Mohammad Taghi, Hamid, Mohammad, Izadyar, Mina

المساهمون: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University Tehran, Tehran Medical Genetics Laboratory, Tehran Medical Genetics Laboratory Iran, Molecular Medicine Division, Biotechnology Research Center, Institut Pasteur d'Iran, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Department of Pediatric Hematology, Markase Tebbi Koodakan (Children Medical Center), Tehran University of Medical Sciences

المصدر: ISSN: 0939-5555.

مصطلحات موضوعية: hemoglobin variant, β-thalassemia phenotype, Iranian family, MESH: Anemia, Hemolytic, MESH: Splenomegaly, MESH: beta-Thalassemia, MESH: Adult, MESH: Blood Transfusion, MESH: Child, Preschool, MESH: DNA Repeat Expansion, MESH: Female, MESH: Hemoglobins, Abnormal, MESH: Humans, MESH: Iran, MESH: Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20521148; pasteur-00750569; https://riip.hal.science/pasteur-00750569Test; https://riip.hal.science/pasteur-00750569/documentTest; https://riip.hal.science/pasteur-00750569/file/fulltext.pdfTest; PUBMED: 20521148

الإتاحة: https://doi.org/10.1007/s00277-010-1003-4Test
https://riip.hal.science/pasteur-00750569Test
https://riip.hal.science/pasteur-00750569/documentTest
https://riip.hal.science/pasteur-00750569/file/fulltext.pdfTest

المؤلفون: Majounie, E1, Renton, Ae, Mok, K, Dopper, Eg, Waite, A, Rollinson, S, Chiò, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten JC, Abramzon, Y, Johnson, Jo, Sendtner, M, Pamphlett, R, Orrell, Rw, Mead, S, Sidle, Kc, Houlden, H, Rohrer, Jd, Morrison, Ke, Pall, H, Talbot, K, Ansorge, O, Hernandez, Dg, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Floris, Gl, Remes, Am, Laaksovirta, H, Mccluskey, L, Trojanowski, Jq, Van Deerlin VM, Schellenberg, Gd, Nalls, Ma, Drory, Ve, Lu, Cs, Yeh, Th, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, Pj, Heutink, P, Morris, Hr, Pickering-Brown, S, Traynor, Bj, Adamson, G, Bayer, Aj, Beck, J, Callister, Jb, Blake, Dj, Blumen, Sc, Collinge, J, Dunckley, T, Ealing, J, East, S, Elman, L, Gerhard, A, Guerreiro, Rj, Gwinn, K, Halliwell, N, Hamdalla, Hh, Hewitt, C, Ince, P, Jablonka, S, James, C, Kent, L, Knock, Jc, Lynch, T, Mahoney, C, Mann, D, Neal, J, Norris, D, O'Dowd, S, Richardson, A, Rossor, M, Rothstein, J, Scholz, Sw, Snowden, J, Stephan, Da, Toulson, G, Turner, Mr, Warren, Jd, Young, K, Weng, Yh, Kuo, Hc, Lai, Sc, Huang, Cl, Camuzat, A, Entraingues, L, Guillot-Noël, Verpillat, P, Blanc, F, Camu, W, Clerget-Darpoux, F, Corcia, P, Couratier, P, Didic, M, Dubois, B, Duyckaerts, C, Guedj, E, Golfier, V, Habert, Mo, Hannequin, D, Lacomblez, L, Meininger, V, Salachas, F, Levy, R, Michel, Bf, Pasquier, F, Puel, M, Thomas-Anterion, C, Sellal, F, Vercelletto, M, Moglia, C, Cammarosano, S, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Marinou, K, Papetti, L, Pisano, F, Pinter, Gl, Conte, A, Luigetti, M, Zollino, M, Lattante, S, Marangi, G, la Bella, V, Spataro, R, Colletti, T, Battistini, S, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Lunetta, C, Penco, S, Monsurrò, Mr, Tedeschi, G, Conforti, Fl, Gambardella, A, Quattrone, A, Volanti, P, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, Mg, Murru, Mr, Pugliatti, M, Parish, Ld, Sotgiu, A, Solinas, G, Ulgheri, L, Ticca, A, Simone, I, Logroscino, G.

المساهمون: Neurology, Erasmus MC other, The Chromosome 9-ALS/FTD Consortium, Human genetics, NCA - Neurodegeneration, Università degli studi di Torino (UNITO), Department of Clinical Genetics, Institute for Clinical Neurobiology, Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), MRC Prion Unit, UCL Institute of neurology, UCL Institute of Neurology, UCL Institute of Neurology, Queen Square, London, Department of Neuroscience, Catholic University, Roma, Fondazione Maugeri, Department of Neuroscience, University of Siena, Siena, Department of Neurology, Chang Gung Memorial Hospital [Taipei] (CGMH), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, MRC Centre for Neuropsychiatric Genetics and Genomics, Medical Research Council (MRC)-School of Medicine [Cardiff], Cardiff University-Institute of Medical Genetics [Cardiff]-Cardiff University-Institute of Medical Genetics [Cardiff], Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Università degli studi di Torino = University of Turin (UNITO), Julius-Maximilians-Universität Würzburg (JMU), UCL Institute of Neurology, Queen Square [London], Università degli Studi di Siena = University of Siena (UNISI), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: The Lancet Neurology; Vol 11
Majounie, E, Renton, A E, Mok, K, Dopper, E G P, Waite, A, Rollinson, S, Chio, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J C, Abramzon, Y, Johnson, J O, Sendtner, M, Pamphlett, R, Orrell, R W, Mead, S, Sidle, K C, Houlden, H, Rohrer, J D, Morrison, K E, Pall, H, Talbot, K, Ansorge, O, Hernandez, D G, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Foris, G L, Remes, A M, Laaksovirta, H, McCluskey, L, Trojanowski, J Q, Van Deerlin, V M, Schellenberg, G D, Nalls, M A, Drory, V E, Lu, C S, Yeh, T H, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, P J, Heutink, P, Morris, H R, Pickering-Brown, S & Traynor, B J 2012, ' Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study ', Lancet Neurology, vol. 11, no. 4, pp. 323-330 . https://doi.org/10.1016/S1474-4422Test(12)70043-1
Lancet Neurology, 11(4), 323-330. Lancet Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩
Nature Communications, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩
Lancet Neurology; 11(4), pp 323-330 (2012)

مصطلحات موضوعية: MESH: Signal Transduction, Male, MESH: Vesicular Transport Proteins, MESH: Membrane Glycoproteins, MESH: DNA Repeat Expansion, MESH: Genotype, Cohort Studies, MESH: Protein Structure, Tertiary, MESH: Aged, 80 and over, MESH: Interferon Regulatory Factor-3, 0302 clinical medicine, C9orf72, MESH: Child, MESH: RNA, Small Interfering, 80 and over, genetics, Age of Onset, Child, MESH: Cohort Studies, MESH: Amyotrophic Lateral Sclerosis, MESH: Aged, Genetics, Aged, 80 and over, 0303 health sciences, MESH: Middle Aged, DNA Repeat Expansion, MESH: Toll-Like Receptor 4, Middle Aged, Penetrance, 3. Good health, Settore MED/26 - NEUROLOGIA, Neurology, MESH: Young Adult, MESH: HEK293 Cells, Child, Preschool, Frontotemporal Dementia, Female, Sample collection, Chromosomes, Human, Pair 9, MESH: Myeloid Differentiation Factor 88, Frontotemporal dementia, Human, Pair 9, Adult, MESH: Protein Transport, medicine.medical_specialty, Adolescent, Genotype, MESH: Age of Onset, MESH: RNA Interference, Clinical Neurology, MESH: Frontotemporal Dementia, MESH: Genetic Loci, TARDBP, Chromosomes, 03 medical and health sciences, Open Reading Frames, Young Adult, MESH: Cross-Sectional Studies, Internal medicine, medicine, MESH: Chemokine CCL5, Humans, ddc:610, Preschool, MESH: Adaptor Proteins, Signal Transducing, 030304 developmental biology, Aged, MESH: Adolescent, MESH: Humans, business.industry, MESH: Transfection, MESH: Child, Preschool, Haplotype, Amyotrophic Lateral Sclerosis, MESH: Adult, MESH: Adaptor Proteins, Vesicular Transport, MESH: Open Reading Frames, medicine.disease, MESH: Male, MESH: Cell Line, C9orf72 Protein, Cross-Sectional Studies, MESH: Endosomes, Genetic Loci, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), MESH: Lipopolysaccharides, MESH: Chromosomes, Human, Pair 9, business, Trinucleotide repeat expansion, MESH: Female, Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, genetics, Child, Child, Preschool, Chromosomes, genetics, Cohort Studies, Cross-Sectional Studies, DNA Repeat Expansion, genetics, Female, Frontotemporal Dementia, genetics, Genetic Loci, Genotype, Humans, Male, Middle Aged, Open Reading Frames, genetics, Young Adult, 030217 neurology & neurosurgery

وصف الملف: application/pdf; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8784206eb3366edf49dc1cda0e6ce09fTest

المؤلفون: Alain Destée, Alexis Brice, Nawal Benammar, Alexandra Durr, François Sellal, A. M. Bonnet, P. Charles, Giovanni Stevanin, Suzanne Lesage, I. Le Ber, Agnès Camuzat

المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, Clinique Neurologique, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), ANR, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC)

المصدر: Neurology
Neurology, 2007, 69 (21), pp.1970-5. ⟨10.1212/01.wnl.0000269323.21969.db⟩
Neurology, American Academy of Neurology, 2007, 69 (21), pp.1970-5. ⟨10.1212/01.wnl.0000269323.21969.db⟩

مصطلحات موضوعية: Male, MESH: DNA Repeat Expansion, MESH: Risk Assessment, 0302 clinical medicine, Degenerative disease, Autosomal dominant cerebellar ataxia, Risk Factors, MESH: Risk Factors, Prevalence, MESH: Nerve Tissue Proteins, MESH: Heterozygote, MESH: Aged, Genetics, 0303 health sciences, DNA Repeat Expansion, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, Parkinsonism, MESH: Genetic Predisposition to Disease, Parkinson Disease, Middle Aged, LRRK2, Phenotype, Pedigree, Ataxins, Spinocerebellar ataxia, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], France, medicine.symptom, Heterozygote, MESH: Pedigree, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Risk Assessment, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, MESH: Prevalence, Aged, Repetitive Sequences, Nucleic Acid, 030304 developmental biology, MESH: Repetitive Sequences, Nucleic Acid, MESH: Humans, Cerebellar ataxia, medicine.disease, MESH: Male, nervous system diseases, MESH: France, Neurology (clinical), Trinucleotide repeat expansion, MESH: Female, MESH: Parkinson Disease, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b209eb35b6849fd1b1eb3d196f05b17Test
https://doi.org/10.1212/01.wnl.0000269323.21969.dbTest