المؤلفون: Barateau, Lucie, Krache, Anis, da Costa, Alexandre, Lecendreux, Michel, Debs, Rachel, Chenini, Sofiene, Arlicot, Nicolas, Vourc'H, Patrick, Evangelista, Elisa, Alonso, Mathieu, Salabert, Anne-Sophie, Silva, Stein, Béziat, Séverine, Jaussent, Isabelle, Mariano-Goulart, Denis, Payoux, Pierre, Dauvilliers, Yves

المساهمون: Neurochirurgie Hôpital Gui de Chauliac, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Thalamus / diagnostic imaging, MESH: Thalamus / metabolism, MESH: Hypothalamus / metabolism, MESH: Young Adult, MESH: Humans, MESH: Hypothalamus / diagnostic imaging, MESH: Hypothalamus / pathology, MESH: Narcolepsy / diagnostic imaging, MESH: Male, MESH: Microglia / metabolism, MESH: Orexins / metabolism, MESH: Middle Aged, MESH: Narcolepsy / genetics, MESH: Narcolepsy / metabolism, MESH: Positron-Emission Tomography, MESH: Receptors, GABA / metabolism, MESH: Pyrazoles, MESH: Pyrimidines, GABA / genetics, MESH: Severity of Illness Index, MESH: Female, [SCCO.NEUR]Cognitive science/Neuroscience

Relation: info:eu-repo/semantics/altIdentifier/pmid/38669634; PUBMED: 38669634

الاتاحة: https://hal.science/hal-04561871
https://hal.science/hal-04561871v1/document
https://hal.science/hal-04561871v1/file/2024%20Barateau%20et%20al.,%20Microglia.pdf
https://doi.org/10.1212/WNL.0000000000209326

المؤلفون: Seifinejad, A., Ramosaj, M., Shan, L., Li, S., Possovre, M.L., Pfister, C., Fronczek, R., Garrett-Sinha, L.A., Frieser, D., Honda, M., Arribat, Y., Grepper, D., Amati, F., Picot, M., Agnoletto, A., Iseli, C., Chartrel, N., Liblau, R., Lammers, G.J., Vassalli, A., Tafti, M.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, vol. 120, no. 19, pp. e2220911120

مصطلحات موضوعية: Mice, Animals, Orexins/metabolism, Cataplexy/genetics, Intracellular Signaling Peptides and Proteins/metabolism, Neuropeptides/metabolism, Narcolepsy/genetics, Hypothalamus/metabolism, Epigenesis, Genetic, Corticotropin-Releasing Hormone/genetics, Corticotropin-Releasing Hormone/metabolism, CRH, HCRT, QRFP, gene silencing, methylation

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37126681; info:eu-repo/semantics/altIdentifier/eissn/1091-6490; info:eu-repo/grantAgreement/SNF/Projects/188789///; info:eu-repo/grantAgreement/SNF/Projects/173126///; info:eu-repo/grantAgreement/SNF/Programs/185655///; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1008AC8B48C57; https://serval.unil.ch/notice/serval:BIB_1008AC8B48C5; https://serval.unil.ch/resource/serval:BIB_1008AC8B48C5.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_1008AC8B48C5
https://doi.org/10.1073/pnas.2220911120
https://serval.unil.ch/resource/serval:BIB_1008AC8B48C5.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1008AC8B48C57

المؤلفون: Ollila, H.M., Sharon, E., Lin, L., Sinnott-Armstrong, N., Ambati, A., Yogeshwar, S.M., Hillary, R.P., Jolanki, O., Faraco, J., Einen, M., Luo, G., Zhang, J., Han, F., Yan, H., Dong, X.S., Li, J., Hong, S.C., Kim, T.W., Dauvilliers, Y., Barateau, L., Lammers, G.J., Fronczek, R., Mayer, G., Santamaria, J., Arnulf, I., Knudsen-Heier, S., Bredahl, MKL, Thorsby, P.M., Plazzi, G., Pizza, F., Moresco, M., Crowe, C., Van den Eeden, S.K., Lecendreux, M., Bourgin, P., Kanbayashi, T., Martínez-Orozco, F.J., Peraita-Adrados, R., Benetó, A., Montplaisir, J., Desautels, A., Huang, Y.S., Jennum, P., Nevsimalova, S., Kemlink, D., Iranzo, A., Overeem, S., Wierzbicka, A., Geisler, P., Sonka, K., Honda, M., Högl, B., Stefani, A., Coelho, F.M., Mantovani, V., Feketeova, E., Wadelius, M., Eriksson, N., Smedje, H., Hallberg, P., Hesla, P.E., Rye, D., Pelin, Z., Ferini-Strambi, L., Bassetti, C.L., Mathis, J., Khatami, R., Aran, A., Nampoothiri, S., Olsson, T., Kockum, I., Partinen, M., Perola, M., Kornum, B.R., Rueger, S., Winkelmann, J., Miyagawa, T., Toyoda, H., Khor, S.S., Shimada, M., Tokunaga, K., Rivas, M., Pritchard, J.K., Risch, N., Kutalik, Z., O'Hara, R., Hallmayer, J., Ye, C.J., Mignot, E.J.

المساهمون: FinnGen, Als, T.D., Ziemann, A., Abbasi, A., Lehtonen, A., Lertratanakul, A., Riley-Gillis, B., Rahimov, F., Jacob, H., Waring, J., Liu, M., Smaoui, N., Popovic, R., Platt, A., Matakidou, A., Challis, B., Paul, D., Lassi, G., Tachmazidou, I., Hakanen, A., Schleutker, J., Pitkänen, N., Terho, P., Virolainen, P., Mannermaa, A., Kosma, V.M., Chen, C.Y., Runz, H., John, S., Lahdenperä, S., Loomis, S., Eaton, S., Okafo, G., Salminen-Mankonen, H., Jung, M., Lawless, N., Ding, Z., Maranville, J., Hochfeld, M., Plenge, R., Biswas, S., Kanai, M., Maasha, M., Zhou, W., Tuovila, O., Pakkanen, R., Laukkanen, J., Kuopio, T., Aittomäki, K., Mäkitie, A., Pujol, N., Laisk, T., Aalto-Setälä, K., Mäkelä, J., Hautalahti, M., Smith, S., Southerington, T., Kangasniemi, E., Palin, H., Kähönen, M., Siltanen, S., Laitinen, T., Vaura, F., Suvisaari, J., Niiranen, T., Salomaa, V., Partanen, J., Arvas, M., Ritari, J., Hyvärinen, K., Choy, D., Teng, E., Strauss, E., Chen, H., Schutzman, J., Hunkapiller, J., McCarthy, M., Bowers, N., Pendergrass, R., Lu, T., Chu, A., Kulkarni, D., Xu, F., Betts, J., Eicher, J., Gordillo, J.E., Addis, L., McCarthy, L., Mishra, R., Kumar, J., Ehm, M.G., Auro, K., Pulford, D., Pitkäranta, A., Loukola, A., Punkka, E., Linna, M.M., Carpén, O., Raivio, T.

المصدر: Nature communications, vol. 14, no. 1, pp. 2709

مصطلحات موضوعية: Humans, Autoimmunity/genetics, Influenza, Human/epidemiology, Human/genetics, Influenza A Virus, H1N1 Subtype/genetics, Autoimmune Diseases/epidemiology, Autoimmune Diseases/genetics, Influenza Vaccines/adverse effects, Narcolepsy/chemically induced, Narcolepsy/genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37188663; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_57D392F74F523; https://serval.unil.ch/notice/serval:BIB_57D392F74F52; https://serval.unil.ch/resource/serval:BIB_57D392F74F52.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_57D392F74F52
https://doi.org/10.1038/s41467-023-36120-z
https://serval.unil.ch/resource/serval:BIB_57D392F74F52.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_57D392F74F523

المؤلفون: Melzi, Silvia, Morel, Anne‐laure, Scoté‐blachon, Céline, Liblau, Roland, Dauvilliers, Yves, Peyron, Christelle

المساهمون: Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier = Montpellier University Hospital, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), ANR-18-CE17-0014,NARCO-T1,Physiopathologie de la narcolepsie de type 1(2018)

المصدر: ISSN: 1015-6305.

مصطلحات موضوعية: hypocretin, hypothalamus, orexin, sleep, MESH: Animals, MESH: Histamine* / metabolism, MESH: Histidine Decarboxylase / genetics, MESH: Humans, MESH: Mice, MESH: Mixed Function Oxygenases, MESH: Narcolepsy* / genetics, MESH: Narcolepsy* / metabolism, MESH: Orexins / metabolism, MESH: RNA, Messenger, [SDV]Life Sciences [q-bio], [SDV.IMM]Life Sciences [q-bio]/Immunology

Relation: info:eu-repo/semantics/altIdentifier/pmid/34672414; PUBMED: 34672414; PUBMEDCENTRAL: PMC8877734

الاتاحة: https://hal.science/hal-03443235
https://hal.science/hal-03443235v1/document
https://hal.science/hal-03443235v1/file/bpa.13027.pdf
https://doi.org/10.1111/bpa.13027

المؤلفون: Beltrán, Eduardo, Nguyen, Xuan-Hung, Quériault, Clémence, Barateau, Lucie, Dauvilliers, Yves, Dornmair, Klaus, Liblau, Roland

المساهمون: Institute of Clinical Neuroimmunology Munich, Germany, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Vinmec Research Institute of Stem cell and Gene technology (VRISG), Hanoi, Vietnam, Département de neurologie Montpellier, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Université de Montpellier (UM), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 0896-8411.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Immunologic Memory, MESH: Male, MESH: Middle Aged, MESH: Narcolepsy* / genetics, MESH: Narcolepsy* / immunology, MESH: Narcolepsy* / pathology, MESH: Receptors, Antigen, T-Cell* / genetics, T-Cell* / immunology, MESH: CD4-Positive T-Lymphocytes / immunology, MESH: CD4-Positive T-Lymphocytes / pathology, MESH: CD8-Positive T-Lymphocytes / immunology, MESH: CD8-Positive T-Lymphocytes / pathology, MESH: Female, MESH: HLA-DQ beta-Chains / genetics, MESH: HLA-DQ beta-Chains / immunology, MESH: Humans, [SDV.IMM]Life Sciences [q-bio]/Immunology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/30948158; hal-02867986; https://hal.umontpellier.fr/hal-02867986; https://hal.umontpellier.fr/hal-02867986/document; https://hal.umontpellier.fr/hal-02867986/file/S0896841119300484.pdf; PII: S0896-8411(19)30048-4; PUBMED: 30948158

الاتاحة: https://hal.umontpellier.fr/hal-02867986
https://hal.umontpellier.fr/hal-02867986/document
https://hal.umontpellier.fr/hal-02867986/file/S0896841119300484.pdf
https://doi.org/10.1016/j.jaut.2019.03.010

المؤلفون: Roh, Eun Youn, Park, Myoung Hee, Park, Hyejin, Park, Doo-Heum, Choi, Jong-Bae, Kim, Seog Ju, Jeong, Do-Un

المساهمون: 노은연, 박명희, 박혜진, 박두흠, 최종배, 김석주, 정도언

مصطلحات موضوعية: Cataplexy/*genetics, Gene Frequency, HLA-DQ Antigens/*genetics, HLA-DR Antigens/*genetics, Korea/epidemiology, Narcolepsy/*genetics, Phenotype, Polymerase Chain Reaction, Genetic Predisposition to Disease

Relation: Hum Immunol 67:749; 0198-8859 (Print); http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17002906; https://hdl.handle.net/10371/12118

الاتاحة: https://hdl.handle.net/10371/12118
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17002906
https://doi.org/10.1016/j.humimm.2006.03.024

المؤلفون: Degn, M., Dauvilliers, Y., Dreisig, K., Lopez, R., Pfister, C., Pradervand, S., Rahbek Kornum, B., Tafti, M.

المصدر: Brain, vol. 140, no. 6, pp. 1657-1668

مصطلحات موضوعية: Adult, Cataplexy/genetics, Cataplexy/physiopathology, Exons, Female, Humans, Male, Middle Aged, Mutation, Missense, Narcolepsy/genetics, Narcolepsy/physiopathology, Pedigree, Receptors, Purinergic P2/genetics, Signal Transduction/genetics, hypersomnias, genetics, inflammation, narcolepsy, whole-exome sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/28460015; info:eu-repo/semantics/altIdentifier/eissn/1460-2156; https://serval.unil.ch/notice/serval:BIB_31CF0EE2F0EA

الاتاحة: https://serval.unil.ch/notice/serval:BIB_31CF0EE2F0EA
https://doi.org/10.1093/brain/awx093

المساهمون: Chen, Lei, Chinese University of Hong Kong Graduate School. Division of Medical Sciences.

مصطلحات موضوعية: Chinese, Chinese--China--Hong Kong, Narcolepsy, Narcolepsy--China--Hong Kong, Asian Continental Ancestry Group, Asian Continental Ancestry Group--Hong Kong, Narcolepsy--genetics, Narcolepsy--genetics--Hong Kong

جغرافية الموضوع: China, Hong Kong

وصف الملف: electronic resource; microform; microfiche; 1 online resource (xi, 94 leaves : ill.)

Relation: cuhk:344239; http://library.cuhk.edu.hk/record=b6074606; https://repository.lib.cuhk.edu.hk/en/item/cuhk-344239

الاتاحة: http://library.cuhk.edu.hk/record=b6074606
https://repository.lib.cuhk.edu.hk/en/item/cuhk-344239

المؤلفون: Winkelmann, Juliane, Lin, Ling, Schormair, Barbara, Kornum, Birgitte R, Faraco, Juliette, Plazzi, Giuseppe, Melberg, Atle, Cornelio, Ferdinando, Urban, Alexander E, Pizza, Fabio, Poli, Francesca, Grubert, Fabian, Wieland, Thomas, Graf, Elisabeth, Hallmayer, Joachim, Strom, Tim M, Mignot, Emmanuel

المصدر: Winkelmann , J , Lin , L , Schormair , B , Kornum , B R , Faraco , J , Plazzi , G , Melberg , A , Cornelio , F , Urban , A E , Pizza , F , Poli , F , Grubert , F , Wieland , T , Graf , E , Hallmayer , J , Strom , T M & Mignot , E 2012 , ' Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy ' , Human Molecular Genetics , vol. 21 , no. 10 , pp. 2205-10 . ....

مصطلحات موضوعية: Amino Acid Sequence, Cerebellar Ataxia/genetics, DNA (Cytosine-5-)-Methyltransferase 1, DNA (Cytosine-5-)-Methyltransferases/genetics, Deafness/genetics, Exome, Exons, Genes, Dominant, Humans, Molecular Sequence Data, Mutation, Narcolepsy/genetics, Pedigree, Phenotype

الاتاحة: https://curis.ku.dk/portal/da/publications/mutations-in-dnmt1-cause-autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy(1bcfb34b-7092-47e5-930c-3f9e47ccb874).html
https://doi.org/10.1093/hmg/dds035

المؤلفون: Weiner Lachmi, Karin, Lin, Ling, Kornum, Birgitte Rahbek, Rico, Tom, Lo, Betty, Aran, Adi, Mignot, Emmanuel

المصدر: Weiner Lachmi , K , Lin , L , Kornum , B R , Rico , T , Lo , B , Aran , A & Mignot , E 2012 , ' DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy status ' , Human Immunology , vol. 73 , no. 4 , pp. 405-10 . https://doi.org/10.1016/j.humimm.2012.01.004

مصطلحات موضوعية: Adult, Alleles, B-Lymphocytes/immunology, Case-Control Studies, Female, Gene Dosage, Gene Expression, Gene Expression Profiling, Genotype, HLA-DQ beta-Chains/genetics, Humans, Male, Narcolepsy/genetics

الاتاحة: https://researchprofiles.ku.dk/da/publications/dqb10602-allelespecific-expression-varies-by-allelic-dosage-not-narcolepsy-status(c25e85b9-67ab-4a07-bcca-572f4966c274).html
https://doi.org/10.1016/j.humimm.2012.01.004

المؤلفون: Kornum, Birgitte R, Kawashima, Minae, Faraco, Juliette, Lin, Ling, Rico, Thomas J, Hesselson, Stephanie, Axtell, Robert C, Kuipers, Hedwich, Weiner, Karin, Hamacher, Alexandra, Kassack, Matthias U, Han, Fang, Knudsen, Stine, Li, Jing, Dong, Xiaosong, Winkelmann, Juliane, Plazzi, Giuseppe, Nevsimalova, Sona, Hong, Seung-Chul, Honda, Yutaka, Honda, Makoto, Högl, Birgit, Ton, Thanh G N, Montplaisir, Jacques, Bourgin, Patrice, Kemlink, David, Huang, Yu-Shu, Warby, Simon, Einen, Mali, Eshragh, Jasmin L, Miyagawa, Taku, Desautels, Alex, Ruppert, Elisabeth, Hesla, Per Egil, Poli, Francesca, Pizza, Fabio, Frauscher, Birgit, Jeong, Jong-Hyun, Lee, Sung-Pil, Strohl, Kingman P, Longstreth, William T, Kvale, Mark, Dobrovolna, Marie, Ohayon, Maurice M, Nepom, Gerald T, Wichmann, H-Erich, Rouleau, Guy A, Gieger, Christian, Levinson, Douglas F, Jennum, Poul

المصدر: Kornum , B R , Kawashima , M , Faraco , J , Lin , L , Rico , T J , Hesselson , S , Axtell , R C , Kuipers , H , Weiner , K , Hamacher , A , Kassack , M U , Han , F , Knudsen , S , Li , J , Dong , X , Winkelmann , J , Plazzi , G , Nevsimalova , S , Hong , S-C , Honda , Y , Honda , M , Högl , B , Ton , T G N , Montplaisir ....

مصطلحات موضوعية: African Americans, Alleles, Asian Continental Ancestry Group, Case-Control Studies, Ethnic Groups/genetics, European Continental Ancestry Group, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Narcolepsy/genetics, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Purinergic P2/genetics

الاتاحة: https://curis.ku.dk/portal/da/publications/common-variants-in-p2ry11-are-associated-with-narcolepsy(e0e088b4-b1e1-4c35-ab3d-7b0951426ade).html
https://doi.org/10.1038/ng.734

المؤلفون: Hor, H., Bartesaghi, L., Kutalik, Z., Vicário, J.L., de Andrés, C., Pfister, C., Lammers, G.J., Guex, N., Chrast, R., Tafti, M., Peraita-Adrados, R.

المصدر: American Journal of Human Genetics, vol. 89, no. 3, pp. 474-479

مصطلحات موضوعية: Animals, Base Sequence, Cell Line, Chromosomes, Human, Pair 6/genetics, Genes, Dominant/genetics, Genetic Linkage, Genetic Predisposition to Disease/genetics, Genotype, Humans, Lod Score, Mice, Models, Molecular, Molecular Sequence Data, Mutation, Missense/genetics, Myelin Proteins/chemistry, Myelin Proteins/genetics, Myelin-Oligodendrocyte Glycoprotein, Narcolepsy/genetics, Pedigree, Polymorphism, Single Nucleotide/genetics, Sequence Analysis, DNA, Spain

Relation: info:eu-repo/semantics/altIdentifier/pmid/21907016; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_74EAE8242716

الاتاحة: https://serval.unil.ch/notice/serval:BIB_74EAE8242716
https://doi.org/10.1016/j.ajhg.2011.08.007

المؤلفون: Cvetkovic-Lopes, V., Bayer, L., Dorsaz, S., Maret, S., Pradervand, S., Dauvilliers, Y., Lecendreux, M., Lammers, G.J., Donjacour, C.E., Du Pasquier, R.A., Pfister, C., Petit, B., Hor, H., Mühlethaler, M., Tafti, M.

المصدر: Journal of Clinical Investigation, vol. 120, no. 3, pp. 713-719

مصطلحات موضوعية: Animals, Autoantibodies/blood, Autoantibodies/immunology, Autoantigens/genetics, Autoantigens/immunology, Autoimmune Diseases/blood, Autoimmune Diseases/genetics, Female, Humans, Hypothalamus/immunology, Hypothalamus/metabolism, Intracellular Signaling Peptides and Proteins/genetics, Intracellular Signaling Peptides and Proteins/immunology, Male, Mice, Transgenic, Narcolepsy/blood, Narcolepsy/genetics, Neurons/immunology, Neurons/metabolism, Neuropeptides/genetics, Neuropeptides/immunology, Protein-Serine-Threonine Kinases/genetics, Protein-Serine-Threonine Kinases/immunology, Severity of Illness Index, Sleep Initiation and Maintenance Disorders/blood, Sleep Initiation and Maintenance Disorders/genetics, Time Factors

Relation: info:eu-repo/semantics/altIdentifier/pmid/20160349; info:eu-repo/semantics/altIdentifier/pissn/1558-8238[electronic], 0021-9738[linking]; https://serval.unil.ch/notice/serval:BIB_6F1CF4DFB5CB

الاتاحة: https://serval.unil.ch/notice/serval:BIB_6F1CF4DFB5CB
https://doi.org/10.1172/JCI41366

المؤلفون: Hor, H., Kutalik, Z., Dauvilliers, Y., Valsesia, A., Lammers, G.J., Donjacour, C.E., Iranzo, A., Santamaria, J., Peraita Adrados, R., Vicario, J.L., Overeem, S., Arnulf, I., Theodorou, I., Jennum, P., Knudsen, S., Bassetti, C., Mathis, J., Lecendreux, M., Mayer, G., Geisler, P., Benetó, A., Petit, B., Pfister, C., Bürki, J.V., Didelot, G., Billiard, M., Ercilla, G., Verduijn, W., Claas, F.H., Vollenweider, P., Waeber, G., Waterworth, D.M., Mooser, V., Heinzer, R., Beckmann, J.S., Bergmann, S., Tafti, M.

المصدر: Nature Genetics, vol. 42, no. 9, pp. 786-789

مصطلحات موضوعية: Adult, Aged, Case-Control Studies, European Continental Ancestry Group/genetics, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-D Antigens/genetics, Haplotypes, Humans, Male, Middle Aged, Narcolepsy/genetics, Colaus Study

Relation: info:eu-repo/semantics/altIdentifier/pmid/20711174; info:eu-repo/semantics/altIdentifier/pissn/1546-1718[electronic], 1061-4036[linking]; https://serval.unil.ch/notice/serval:BIB_CFB40FFC4F99

الاتاحة: https://serval.unil.ch/notice/serval:BIB_CFB40FFC4F99
https://doi.org/10.1038/ng.647

المؤلفون: Birgitte Rahbek Kornum, Tim M. Strom, Fabian Grubert, Elisabeth Graf, Fabio Pizza, Ling Lin, Juliette Faraco, Atle Melberg, Alexander E. Urban, Juliane Winkelmann, Giuseppe Plazzi, Barbara Schormair, Francesca Poli, Thomas Wieland, Emmanuel Mignot, Ferdinando Cornelio, Joachim Hallmayer

المساهمون: Winkelmann J., Lin L., Schormair B., Kornum B.R., Faraco J., Plazzi G., Melberg A., Cornelio F., Urban A.E., Pizza F., Poli F., Grubert F., Wieland T., Graf E., Hallmayer J., Strom T.M., Mignot E.

المصدر: Hum. Mol. Genet. 21, 2205-2210 (2012)
Human Molecular Genetics
Human Molecular Genetics; Vol 21

مصطلحات موضوعية: DNA (Cytosine-5-)-Methyltransferase 1, Ataxia, Cerebellar Ataxia, phenotype, Molecular Sequence Data, Biology, Deafness, medicine.disease_cause, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Genetics, medicine, Humans, Exome, Amino Acid Sequence, DNA (Cytosine-5-)-Methyltransferases, Molecular Biology, Genetics (clinical), Exome sequencing, 030304 developmental biology, Genes, Dominant, Narcolepsy, Sanger sequencing, 0303 health sciences, Mutation, Cerebellar ataxia, General Medicine, Articles, Exons, medicine.disease, narcolepsy genetics, Pedigree, Phenotype, narcolepsy genetic, symbols, medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622c418a4cf65d1083c8d04b3c526247
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=7505

المؤلفون: Tafti, M.

المصدر: Nature Medicine, vol. 13, no. 5, pp. 525-6; author reply 526

مصطلحات موضوعية: Animals, Cataplexy/genetics, Cataplexy/veterinary, Dog Diseases/genetics, Dogs, Humans, Intracellular Signaling Peptides and Proteins/pharmacology, Intracellular Signaling Peptides and Proteins/physiology, Narcolepsy/genetics, Narcolepsy/veterinary, Neuropeptides/pharmacology, Neuropeptides/physiology, Rats, Receptors, G-Protein-Coupled/deficiency, G-Protein-Coupled/physiology, Neuropeptide/deficiency, Neuropeptide/physiology, Sleep, REM/drug effects

Relation: info:eu-repo/semantics/altIdentifier/pmid/17479088; info:eu-repo/semantics/altIdentifier/pissn/1078-8956[print], 1078-8956[linking]; https://serval.unil.ch/notice/serval:BIB_DF13261B5A11

الاتاحة: https://serval.unil.ch/notice/serval:BIB_DF13261B5A11
https://doi.org/10.1038/nm0507-525

المؤلفون: Dauvilliers, Yves, Blouin, Jean-Louis, Neidhart, Elisabeth, Carlander, Bertrand, Eliaou, J. F., Antonarakis, Stylianos, Billiard, Michel, Tafti, Mehdi

المصدر: ISSN: 0364-5134 ; Annals of neurology, vol. 56, no. 3 (2004) p. 382-388.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Child, Chromosomes, Human, Pair 21/ genetics, Female, Genetic Markers, Genetic Predisposition to Disease/ genetics, Humans, Linkage (Genetics)/genetics, Lod Score, Male, Narcolepsy/ genetics, Pedigree, Physical Chromosome Mapping/methods

Relation: info:eu-repo/semantics/altIdentifier/pmid/15349865; https://archive-ouverte.unige.ch/unige:8701; unige:8701

الاتاحة: https://archive-ouverte.unige.ch/unige:8701

المؤلفون: Maret, S., Tafti, M.

المصدر: Swiss Medical Weekly, vol. 135, no. 45-46, pp. 662-665

مصطلحات موضوعية: Apnea, Genetic Predisposition to Disease, Humans, Narcolepsy/genetics, Sleep Disorders/genetics, Switzerland

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::24dfe3de0e8e356daabaa53920c252f5
https://serval.unil.ch/resource/serval:BIB_48E586F6C6E1.P001/REF.pdf

المؤلفون: Yves Dauvilliers, Stylianos E. Antonarakis, Mehdi Tafti, Bertrand Carlander, Elisabeth Neidhart, Jean‐François Eliaou, Jean-Louis Blouin, Michel Billiard

المصدر: Annals of Neurology, Vol. 56, No 3 (2004) pp. 382-388

مصطلحات موضوعية: Genetic Markers, Male, Cataplexy, Chromosomes, Human, Pair 21, Genetic Linkage, Genetic Predisposition to Disease/ genetics, Excessive daytime sleepiness, Biology, Genetic linkage, Linkage (Genetics)/genetics, medicine, Humans, Genetic Predisposition to Disease, Narcolepsy/ genetics, Child, Genotyping, Narcolepsy, ddc:616, Genetics, Haplotype, Physical Chromosome Mapping/methods, medicine.disease, Physical Chromosome Mapping, Complete linkage, Chromosomes, Human, Pair 21/ genetics, Pedigree, Neurology, Female, Neurology (clinical), medicine.symptom, Lod Score, Chromosome 21

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7686706a9b05aae0daef024676190b2
https://pubmed.ncbi.nlm.nih.gov/15349865

المؤلفون: Thomas Pollmächer, F. Schwarzfischer, Ekkehard D. Albert, H. Schulz, Peter Geisler, Elke Kiss

المصدر: Sleep. 13(4)

مصطلحات موضوعية: Multiple Sleep Latency Test, Adult, Male, medicine.medical_specialty, Pediatrics, Cataplexy, 610 Medizin, Monozygotic twin, Sleep, REM, Human leukocyte antigen, Asymptomatic, Physiology (medical), Internal medicine, medicine, Diseases in Twins, Reaction Time, Humans, Diseases in Twins/genetics, HLA-DR2 Antigen, First-degree relatives, Aged, Narcolepsy, Aged, 80 and over, ddc:610, Reaction Time/genetics, Sleep, REM/genetics, medicine.diagnostic_test, Narcolepsy/genetics, HLA-DR2 Antigen/genetics, Sleep Stages/genetics, Electroencephalography, Middle Aged, medicine.disease, Pedigree, Endocrinology, Female, Neurology (clinical), Sleep Stages, Sleep onset, medicine.symptom, Psychology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1809fba78a70de022dc9bd989c18569a
https://pubmed.ncbi.nlm.nih.gov/2267476