المؤلفون: Pradhan, Aditi, Mounford, Hayley, Peixinho, Jessica, Rea, Edward, Epeslidou, Emmanouela, Scott, Julia S, Cull, Joanna, Maxwell, Susan, Webster, Richard, Beeson, David, Dong, Yin Yao, Prekovic, Stefan, Bermudez, Isabel, Newbury, Dianne F

المساهمون: CMM Groep Prekovich, Cancer

مصطلحات موضوعية: Acetylcholinesterase/metabolism, Cell Membrane/metabolism, Humans, Intracellular Signaling Peptides and Proteins/metabolism, Receptors, Nicotinic/genetics, Speech, alpha7 Nicotinic Acetylcholine Receptor/metabolism, RIC3, Nicotinic acetylcholine receptors, Backward speech, Cellular and Molecular Neuroscience, Molecular Medicine, Molecular Biology, Cell Biology, Pharmacology, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/451948Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/451948Test

المؤلفون: Katheder, Nadja S, Browder, Kristen C, Chang, Diana, De Maziere, Ann, Kujala, Pekka, van Dijk, Suzanne, Klumperman, Judith, Lu, Tzu-Chiao, Li, Hongjie, Lai, Zijuan, Sangaraju, Dewakar, Jasper, Heinrich

المساهمون: CMM Groep Klumperman, Cancer, CMM Sectie Celbiologie, Brain, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: Animals, Drosophila melanogaster/genetics, Genome-Wide Association Study, Humans, Lung, Pulmonary Disease, Chronic Obstructive, Receptors, Nicotinic/genetics, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/451225Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/451225Test

المؤلفون: Nielsen, Trine, Herlin, Morten Krogh, Linnet, Karen Markussen, Beniczky, Sándor, Sommerlund, Mette, Granild-Jensen, Jakob Bie, Gregersen, Pernille A

المصدر: Nielsen , T , Herlin , M K , Linnet , K M , Beniczky , S , Sommerlund , M , Granild-Jensen , J B & Gregersen , P A 2022 , ' Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant ' , European Journal of Medical Genetics , vol. 65 , no. 3 , 104444 . https://doi.org/10.1016/j.ejmg.2022.104444Test

مصطلحات موضوعية: ADNFLE, ADSHE, CHRNA4, Nocturnal epilepsy, Sleep-related hypermotor epilepsy, Epilepsy/drug therapy, Receptors, Nicotinic/genetics, Sleep, Humans, Male, Arthrogryposis, Seizures

وصف الملف: application/pdf

العلاقة: https://pure.au.dk/portal/da/publications/autosomal-dominant-sleeprelated-hypermotor-epilepsy-caused-by-a-previously-unreported-chrna4-variantTest(8cd08a38-2c7f-4843-8e43-05581bb7e5e5).html

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104444Test
https://pure.au.dk/portal/da/publications/autosomal-dominant-sleeprelated-hypermotor-epilepsy-caused-by-a-previously-unreported-chrna4-variantTest(8cd08a38-2c7f-4843-8e43-05581bb7e5e5).html
https://pure.au.dk/ws/files/352590242/1-s2.0-S1769721222000258-main.pdfTest

المؤلفون: Lossius, Kristine, de Saint Martin, Anne, Myren-Svelstad, Sverre, Bjørnvold, Marit, Minken, Guro, Seegmuller, Caroline, Valenti Hirsch, Maria Paola, Chelly, Jamel, Steinlein, Ortrud, Picard, Fabienne, Brodtkorb, Eylert

المصدر: ISSN: 1525-5050 ; Epilepsy & behavior, vol. 105 (2020) 106944.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, Autosomal dominant sleep-related hypermotor epilepsy (ADSHE), Nicotine, Nicotinic acetylcholine receptor, Precision therapy, P.S280F-CHRNA4, Adolescent, Child, Epilepsy, Reflex / diagnosis, Reflex / drug therapy, Reflex / genetics, Humans, Male, Mutation / genetics, Nicotine / administration & dosage, Receptors, Nicotinic / genetics, Sleep / drug effects, Sleep / genetics, Tobacco Use Cessation Devices, Treatment Outcome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32097883; https://archive-ouverte.unige.ch/unige:158836Test; unige:158836

الإتاحة: https://doi.org/10.1016/j.yebeh.2020.106944Test
https://archive-ouverte.unige.ch/unige:158836Test

المؤلفون: McDaid, A.F., Joshi, P.K., Porcu, E., Komljenovic, A., Li, H., Sorrentino, V., Litovchenko, M., Bevers, RPJ, Rüeger, S., Reymond, A., Bochud, M., Deplancke, B., Williams, R.W., Robinson-Rechavi, M., Paccaud, F., Rousson, V., Auwerx, J., Wilson, J.F., Kutalik, Z.

المصدر: Nature communications, vol. 8, pp. 15842

مصطلحات موضوعية: Aged, 80 and over, Arylsulfotransferase/genetics, Bayes Theorem, Biomarkers/analysis, Disease/genetics, European Continental Ancestry Group/genetics, Female, Genome-Wide Association Study, Humans, Longevity/genetics, Male, Nerve Tissue Proteins/genetics, Polymorphism, Single Nucleotide, RNA-Binding Proteins/genetics, Receptors, Nicotinic/genetics, United Kingdom

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28748955; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C06E0694F6CC9; https://serval.unil.ch/notice/serval:BIB_C06E0694F6CCTest; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_C06E0694F6CC.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C06E0694F6CC9Test

الإتاحة: https://doi.org/10.1038/ncomms15842Test
https://serval.unil.ch/notice/serval:BIB_C06E0694F6CCTest
https://serval.unil.ch/resource/serval:BIB_C06E0694F6CC.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C06E0694F6CC9Test

المؤلفون: Arvaniti, Maria, Jensen, Majbrit, Soni, Neeraj, Wang, Hong, Klein, Anders, Thiriet, Nathalie, Pinborg, Lars, Muldoon, Pretal, Wienecke, Jacob, Imad Damaj, M., Kohlmeier, Kristi, Gondré-Lewis, Marjorie, Mikkelsen, Jens, Thomsen, Morten

المساهمون: Université de Poitiers

المصدر: ISSN: 0022-3042.

مصطلحات موضوعية: LY6/PLAUR domain-containing 6, Ly-6, Lynx, Affinity purification, Nicotine, MESH: Adaptor Proteins, Signal Transducing, MESH: Animals, MESH: Male, MESH: Mice, Inbred C57BL, Knockout, MESH: Nicotine / pharmacology, MESH: Nicotinic Agonists / pharmacology, MESH: PC12 Cells, MESH: Rats, Sprague-Dawley, MESH: Receptors, Nicotinic / genetics, Newborn, Nicotinic / metabolism, MESH: Temporal Lobe / chemistry, MESH: Tissue Distribution, MESH: Antigens, Ly / genetics, Ly / metabolism, MESH: Brain Chemistry / genetics, MESH: GPI-Linked Proteins, MESH: Humans, MESH: In Vitro Techniques

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27344019; hal-04393318; https://hal.science/hal-04393318Test; https://hal.science/hal-04393318/documentTest; https://hal.science/hal-04393318/file/JNC-138-806.pdfTest; PUBMED: 27344019; PUBMEDCENTRAL: PMC5017906

الإتاحة: https://doi.org/10.1111/jnc.13718Test
https://hal.science/hal-04393318Test
https://hal.science/hal-04393318/documentTest
https://hal.science/hal-04393318/file/JNC-138-806.pdfTest

المؤلفون: Thorgeirsson, T E, Steinberg, S, Reginsson, G W, Bjornsdottir, G, Rafnar, T, Jonsdottir, I, Helgadottir, A, Gretarsdottir, S, Helgadottir, H, Jonsson, S, Matthiasson, S E, Gislason, T, Tyrfingsson, T, Gudbjartsson, T, Isaksson, H J, Hardardottir, H, Sigvaldason, A, Kiemeney, L A, Haugen, A, Zienolddiny, S, Wolf, H J, Franklin, W A, Panadero, A, Mayordomo, J I, Hall, I P, Rönmark, E, Lundbäck, B, Dirksen, A, Ashraf, H, Pedersen, J H, Masson, G, Sulem, P, Thorsteinsdottir, U, Gudbjartsson, D F, Stefansson, K

المساهمون: 1 deCODE Genet Amgen, Sturlugata 8, IS-101 Reykjavik, Iceland 2 Univ Iceland, Fac Med, Reykjavik, Iceland 3 Landspitali Univ Hosp, Dept Resp Med, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital 4 Laekning, Med Clin, Reykjavik, Iceland 5 SAA Natl Ctr Addict Med, Reykjavik, Iceland 6 Landspitali Univ Hosp, Dept Cardiothorac Surg, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital 7 Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital 8 Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, NL-6525 ED Nijmegen, Netherlands 9 Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6525 ED Nijmegen, Netherlands 10 Natl Inst Occupat Hlth, Dept Chem & Biol Work Environm, Oslo, Norway 11 Univ Colorado Denver, Colorado Sch Publ Hlth, Community & Behav Hlth, Aurora, CO USA 12 Univ Colorado Denver, Dept Pathol, Aurora, CO USA 13 Hosp Ciudad Coria, Dept Med Oncol, Coria, Spain 14 Univ Colorado, Sch Med, Div Med Oncol, Denver, CO USA 15 Univ Nottingham, Queens Med Ctr, Div Resp Med, Nottingham NG7 2RD, England 16 Sunderby Cent Hosp Norrbotten, Dept Med, OLIN Studies, Lulea, Sweden 17 Umea Univ, Dept Publ Hlth & Clin Med, Occupat & Environm Med, Fac Med, Umea, Sweden 18 Univ Gothenburg, Sahlgrenska Acad, Krefting Res Ctr, Inst Med, Gothenburg, Sweden 19 Univ Copenhagen, Gentofte Hosp, Dept Resp Med, Hellerup, Denmark 20 Akershus Univ Hosp, Ctr Diagnost Imaging, Thorac Sect, Loerenskog, Norway 21 Univ Copenhagen, Rigshosp, Dept Thorac Surg RT, DK-2100 Copenhagen, Denmark

مصطلحات موضوعية: Reykingar, Arfgengi, PAD12, TAS12, Mutation, Missense, Smoking, Receptors, Nicotinic/genetics, Genetic Predisposition to Disease

العلاقة: http://dx.doi.orgTest/ 10.1038/mp.2016.13; A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences. 2016, 21 (5):594-600 Mol. Psychiatry; http://hdl.handle.net/2336/611274Test; Molecular psychiatry

الإتاحة: https://doi.org/10.1038/mp.2016.13Test
http://hdl.handle.net/2336/611274Test

المؤلفون: Jamel Chelly, Fabienne Picard, Kristine Lossius, Caroline Seegmuller, Sverre Myren-Svelstad, Marit Bjørnvold, Guro Minken, Anne de Saint Martin, Maria Paola Valenti Hirsch, Ortrud K. Steinlein, Eylert Brodtkorb

المساهمون: Oslo University Hospital [Oslo], CHU Strasbourg, Norwegian University of Science and Technology (NTNU), St. Olavs Hospital HF (St. Olav's University Hospital), 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), Ludwig-Maximilians-Universität München (LMU), University Hospital and Medical School of Geneva

المصدر: Epilepsy & Behavior
Epilepsy & Behavior, [San Diego CA]: Elsevier B.V., 2020, 105, ⟨10.1016/j.yebeh.2020.106944⟩
Epilepsy & behavior, Vol. 105 (2020) P. 106944

مصطلحات موضوعية: Male, Pediatrics, Mutation / genetics, medicine.medical_treatment, Autosomal dominant sleep-related hypermotor epilepsy (ADSHE), Receptors, Nicotinic, Nicotine, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Receptors, Nicotinic / genetics, 030212 general & internal medicine, Child, Epilepsy, Reflex / genetics, Cognition, Executive functions, Sleep / drug effects, Tobacco Use Cessation Devices, Desensitization (psychology), Nicotinic acetylcholine receptor, Nicotinic agonist, Treatment Outcome, Neurology, medicine.drug, medicine.medical_specialty, Adolescent, Alpha (ethology), Epilepsy, Reflex, 03 medical and health sciences, p.S280F-CHRNA4, medicine, Nicotine / administration & dosage, Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, Precision therapy, business.industry, P.S280F-CHRNA4, medicine.disease, ddc:616.8, Epilepsy, Reflex / drug therapy, Epilepsy, Reflex / diagnosis, Mutation, Sleep / genetics, Neurology (clinical), business, Sleep, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7662c0d147ba1dfd497e5fd48c547aTest
https://pubmed.ncbi.nlm.nih.gov/32097883Test

المساهمون: Ja-Young Kwon, Young-Han Kim, Yong-Won Park, Kyu-Young Lee, Yong-Son Maeng, Muang-Hwa Kang, Se-Hoon Kim, Kim, Se Hoon, Kim, Young Han, Park, Yong Won

مصطلحات موضوعية: Adult, Blotting, Western, Endothelial Cells/metabolism, Female, Humans, Immunohistochemistry, Muscle, Smooth, Vascular/metabolism, Placenta/anatomy & histology, Placenta/metabolism, Pre-Eclampsia/metabolism, Pregnancy, Receptors, Nicotinic/genetics, Nicotinic/metabolism, Reverse Transcriptase Polymerase Chain Reaction, Stromal Cells/metabolism, Up-Regulation, alpha7 Nicotinic Acetylcholine Receptor

وصف الملف: 35~39

العلاقة: EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY; J00834; OAK-2007-00723; https://ir.ymlib.yonsei.ac.kr/handle/22282913/95995Test; http://www.sciencedirect.com/science/article/pii/S0301211506003344Test; T200700523; EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, Vol.132(1) : 35-39, 2007

الإتاحة: https://doi.org/10.1016/j.ejogrb.2006.05.034Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/95995Test
http://www.sciencedirect.com/science/article/pii/S0301211506003344Test

المؤلفون: Cederquist, E

المصدر: Medicinsk Vetenskap vid Karolinska Institutet. (1):15