المؤلفون: Skuladottir, Astros Th, Bjornsdottir, Gyda, Thorleifsson, Gudmar, Walters, G. Bragi, Nawaz, Muhammad Sulaman, Moore, Kristjan Helgi Swerford, Olason, Pall I., Thorgeirsson, Thorgeir E., Sigurpalsdottir, Brynja, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Magnusson, Sigurdur H., Oddsson, Asmundur, Bjornsdottir, Anna, Vikingsson, Arnor, Sveinsson, Olafur A., Hrafnsdottir, Maria G., Sigurdardottir, Gudrun R., Halldorsson, Bjarni V., Hansen, Thomas Folkmann, Paarup, Helene, Erikstrup, Christian, Nielsen, Kaspar, Klokker, Mads, Bruun, Mie Topholm, Sorensen, Erik, Banasik, Karina, Burgdorf, Kristoffer S., Pedersen, Ole Birger, Ullum, Henrik, Jonsdottir, Ingileif, Stefansson, Hreinn, Stefansson, Kari

المساهمون: Faculty of Medicine, Internal Medicine and Emergency Services, Other departments, Clinical Laboratory Services, Diagnostics and Blood Bank, Reykjavik University

مصطلحات موضوعية: Andlit, Lömun, Taugar, Erfðafræði, Ball's Palsy, Prospective Studies, Humans, Middle Aged, Male, Risk, Bell Palsy/genetics, Facial Nerve/pathology, Facial Paralysis/genetics, Genome-Wide Association Study/methods, Inflammation/genetics, Adult, Female, Aged, Facial Muscles/pathology, Movement/physiology, Multidisciplinary

الوقت: 602891, 848099

العلاقة: info:eu-repo/grantAgreement/EC/FP7/; info:eu-repo/grantAgreement/EC/FH2020/; Scientific Reports; 11(1); http://www.scopus.com/inward/record.url?scp=85101028953&partnerID=8YFLogxKTest; Skuladottir , A T , Bjornsdottir , G , Thorleifsson , G , Walters , G B , Nawaz , M S , Moore , K H S , Olason , P I , Thorgeirsson , T E , Sigurpalsdottir , B , Sveinbjornsson , G , Eggertsson , H P , Magnusson , S H , Oddsson , A , Bjornsdottir , A , Vikingsson , A , Sveinsson , O A , Hrafnsdottir , M G , Sigurdardottir , G R , Halldorsson , B V , Hansen , T F , Paarup , H , Erikstrup , C , Nielsen , K , Klokker , M , Bruun , M T , Sorensen , E , Banasik , K , Burgdorf , K S , Pedersen , O B , Ullum , H , Jonsdottir , I , Stefansson , H & Stefansson , K 2021 , ' A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy ' , Scientific Reports , vol. 11 , no. 1 , 4188 , pp. 4188 . https://doi.org/10.1038/s41598-021-82736-wTest; 10d9fef1-2dca-456b-9445-bf4a7fc8f0e2; 85101028953; 000621416400061; unpaywall: 10.1038/s41598-021-82736-w; https://hdl.handle.net/20.500.11815/3068Test

الإتاحة: https://doi.org/20.500.11815/3068Test
https://doi.org/10.1038/s41598-021-82736-wTest
https://hdl.handle.net/20.500.11815/3068Test

المؤلفون: Kathe, C., Skinnider, M.A., Hutson, T.H., Regazzi, N., Gautier, M., Demesmaeker, R., Komi, S., Ceto, S., James, N.D., Cho, N., Baud, L., Galan, K., Matson, KJE, Rowald, A., Kim, K., Wang, R., Minassian, K., Prior, J.O., Asboth, L., Barraud, Q., Lacour, S.P., Levine, A.J., Wagner, F., Bloch, J., Squair, J.W., Courtine, G.

المصدر: Nature, vol. 611, no. 7936, pp. 540-547

مصطلحات موضوعية: Animals, Humans, Mice, Neurons/physiology, Paralysis/genetics, Paralysis/physiopathology, Paralysis/therapy, Spinal Cord/cytology, Spinal Cord/physiology, Spinal Cord/physiopathology, Spinal Cord Injuries/genetics, Spinal Cord Injuries/physiopathology, Spinal Cord Injuries/therapy, Walking/physiology, Electric Stimulation, Lumbosacral Region/innervation, Neurological Rehabilitation, Sequence Analysis, RNA, Gene Expression Profiling

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36352232; info:eu-repo/semantics/altIdentifier/eissn/1476-4687; https://serval.unil.ch/notice/serval:BIB_6672FE6DE4F2Test; urn:issn:0028-0836; https://serval.unil.ch/resource/serval:BIB_6672FE6DE4F2.P001/REF.pdfTest

الإتاحة: https://doi.org/10.1038/s41586-022-05385-7Test
https://serval.unil.ch/notice/serval:BIB_6672FE6DE4F2Test
https://serval.unil.ch/resource/serval:BIB_6672FE6DE4F2.P001/REF.pdfTest

المؤلفون: Yu, YB, Dosanjh, L, Lao, L, Tan, M, Shim, BS, Luo, Y

مصطلحات موضوعية: Microscopy, Fluorescence, Longevity - Drug Effects, Hydrogen Peroxide - Metabolism, Humans, Heat-Shock Proteins, Small - Metabolism, Heat-Shock Proteins - Genetics - Metabolism, Green Fluorescent Proteins - Genetics - Metabolism, Drugs, Chinese Herbal - Pharmacology, Cinnamomum Aromaticum - Chemistry, Caenorhabditis Elegans Proteins - Genetics - Metabolism, Caenorhabditis Elegans - Genetics - Metabolism - Physiology, Animals, Genetically Modified, Amyloid Beta-Peptides - Genetics - Metabolism, Aging - Drug Effects, Time Factors, Signal Transduction - Drug Effects, Receptor, Insulin - Physiology, Plant Bark - Chemistry, Paralysis - Genetics - Metabolism - Prevention & Control, Oxidative Stress - Drug Effects - Physiology, Models, Animal

العلاقة: PLoS ONE; http://www.scopus.com/mlt/select.url?eid=2-s2.0-77949651722&selection=ref&src=s&origin=recordpageTest; Plos One, 2010, v. 5 n. 2; WOS:000274923900008; eid_2-s2.0-77949651722; http://hdl.handle.net/10722/188617Test

الإتاحة: https://doi.org/10.1371/journal.pone.0009339Test
http://hdl.handle.net/10722/188617Test

المؤلفون: Brown Jr, RH, Ptáček, LJ, Ryan, DP, Dias da Silva, MR, Soong, TW, Donaldson, MR, Fontaine, B, Kung, AWC, Jongjaroenprasert, W, Liang, MC, Khoo, DHC, Cheah, JS, Ho, SC, Bernstein, HS, Maciel, RMB

مصطلحات موضوعية: SIGNALING, PROTEINS, HUMDISEASE, Amino Acid Sequence, Potassium Channels, Inwardly Rectifying - chemistry - genetics - metabolism, Mutation, Hypokalemic Periodic Paralysis - genetics - metabolism, Genetic Predisposition to Disease

العلاقة: Cell; http://www.scopus.com/mlt/select.url?eid=2-s2.0-73349132366&selection=ref&src=s&origin=recordpageTest; Cell, 2010, v. 140 n. 1, p. 88-98; 6516385; 98; 1454958; 174479; WOS:000273391900017; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0092-8674&volume=140&issue=1&spage=88&epage=98&date=2010&atitle=Mutations+in+Potassium+Channel+Kir2.6+Cause+Susceptibility+to+Thyrotoxic+Hypokalemic+PeriodicTest+Paralysis; PMC2885139; eid_2-s2.0-73349132366; 88; http://hdl.handle.net/10722/125053Test; 140

الإتاحة: https://doi.org/10.1016/j.cell.2009.12.024Test
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0092-8674&volume=140&issue=1&spage=88&epage=98&date=2010&atitle=Mutations+in+Potassium+Channel+Kir2.6+Cause+Susceptibility+to+Thyrotoxic+Hypokalemic+PeriodicTest+Paralysis
http://hdl.handle.net/10722/125053Test

المؤلفون: Aarskog, N K, Vedeler, C A

المصدر: Tidsskrift for Den Norske Laegeforening. 122(4):382

المؤلفون: Andersen, K V, Michler, R P, Nilssen, Ö, Tranebjaerg, L, Aasly, J

المصدر: Tidsskrift for Den Norske Laegeforening. 119(11):1591

المؤلفون: Fazeli, Walid, Herkenrath, Peter, Volk, Alexander E, Kubisch, Christian, Heller, Raoul, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nürnberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmüller, Janine

المصدر: Human molecular genetics 26(20), 4055-4066 (2017). doi:10.1093/hmg/ddx296

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Blepharoptosis: complications, Blepharoptosis: genetics, Blepharoptosis: pathology, Child, Preschool, Facial Paralysis: congenital, Facial Paralysis: genetics, Facial Paralysis: pathology, Female, Genes, Dominant, Humans, Male, Middle Aged, Mutation, Oculomotor Muscles: pathology, Pedigree, Tubulin: genetics, Velopharyngeal Insufficiency: congenital, Velopharyngeal Insufficiency: genetics, Velopharyngeal Insufficiency: pathology, TUBB6 protein, human, Tubulin

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:29016863; info:eu-repo/semantics/altIdentifier/issn/0964-6906; info:eu-repo/semantics/altIdentifier/issn/1460-2083; https://pub.dzne.de/record/139543Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-05865%22Test

الإتاحة: https://doi.org/10.1093/hmg/ddx296Test
https://pub.dzne.de/record/139543Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-05865%22Test

المؤلفون: Magnus R. Dias da Silva, Louis J. Ptáček, Cheah Js, Su Chin Ho, Annie W.C. Kung, Mui Cheng Liang, Rui M. B. Maciel, Matt R. Donaldson, Wallaya Jongjaroenprasert, Bertrand Fontaine, Devon Ryan, Tuck Wah Soong, Robert H. Brown, Harold S. Bernstein, D. H. C. Khoo

المصدر: Cell. 140(1):88-98

مصطلحات موضوعية: medicine.medical_specialty, Transcription, Genetic, PROTEINS, Nav1.4, DNA Mutational Analysis, Hypokalemic Periodic Paralysis, Molecular Sequence Data, HUMDISEASE, Biology, medicine.disease_cause, Article, General Biochemistry, Genetics and Molecular Biology, Channelopathy, Hypokalemic periodic paralysis, Internal medicine, medicine, Paralysis, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Potassium Channels, Inwardly Rectifying, Mutation, Base Sequence, Hypokalemic Periodic Paralysis - genetics - metabolism, Biochemistry, Genetics and Molecular Biology(all), Thyrotoxic periodic paralysis, medicine.disease, Hypokalemia, Potassium channel, Electrophysiological Phenomena, Endocrinology, SIGNALING, cardiovascular system, biology.protein, Triiodothyronine, Potassium Channels, Inwardly Rectifying - chemistry - genetics - metabolism, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e6aa93880c9575d87a7da050ab51a88Test

المؤلفون: Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A J, Gonzaga-Jauregui, Claudia, Towne, Charles F, Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus*-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R

المصدر: American Journal of Human Genetics, 86 (6), 892-903 (2010)

مصطلحات موضوعية: Charcot-Marie-Tooth Disease/genetics, Chromosomes, Human, Pair 17, Comparative Genomic Hybridization, DNA Copy Number Variations, Gene Deletion, Gene Duplication, Hereditary Sensory and Motor Neuropathy, Humans, Myelin Proteins/genetics, Paralysis/genetics, Translocation, Genetic, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:0002-9297; urn:issn:1537-6605; https://orbi.uliege.be/handle/2268/82734Test; info:hdl:2268/82734; scopus-id:2-s2.0-77953232121; info:pmid:20493460

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.05.001Test
https://orbi.uliege.be/handle/2268/82734Test

المؤلفون: Jeannet, P.Y., Marcoz, J.P., Kuntzer, T., Roulet-Perez, E.

المصدر: Neurology, vol. 70, no. 3, pp. 237-238

مصطلحات موضوعية: Bulbar Palsy, Progressive/genetics, Progressive/physiopathology, Chromosomes, Human, Pair 22/genetics, Cranial Nerves/physiopathology, DNA Mutational Analysis, Deglutition Disorders/genetics, Deglutition Disorders/physiopathology, Dysarthria/genetics, Dysarthria/physiopathology, Facial Paralysis/genetics, Facial Paralysis/physiopathology, Humans, Infant, Newborn, Male, Mobius Syndrome/complications, Mobius Syndrome/genetics, Muscle Hypotonia/complications, Muscle Hypotonia/genetics, Muscle, Skeletal/innervation, Skeletal/physiopathology, Mutation, Myasthenia Gravis/complications, Myasthenia Gravis/genetics, Neuromuscular Junction/genetics, Neuromuscular Junction/physiopathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18195270; info:eu-repo/semantics/altIdentifier/pissn/1526-632X[electronic]; https://serval.unil.ch/notice/serval:BIB_C85B37774829Test

الإتاحة: https://doi.org/10.1212/01.wnl.0000278101.95510.09Test
https://serval.unil.ch/notice/serval:BIB_C85B37774829Test