المؤلفون: Arisa Hirano, Daniel Braas, Ying-Hui Fu, Louis J. Ptáček

المصدر: Cell Reports, Vol 19, Iss 2, Pp 255-266 (2017)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S221112471730387XTest; https://doaj.org/toc/2211-1247Test

الوصول الحر: https://doaj.org/article/d2c07ee7d3ca415daded3fcb09131309Test

المؤلفون: Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne M. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček

المصدر: Cell Reports, Vol 1, Iss 1, Pp 2-12 (2012)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124711000064Test; https://doaj.org/toc/2211-1247Test

الوصول الحر: https://doaj.org/article/34f72425695f4e2292e28ed7b26367c7Test

المؤلفون: Louis J. Ptáček, Daniel Braas, Ying-Hui Fu, Arisa Hirano

المصدر: Cell reports, vol 19, iss 2
Cell Reports, Vol 19, Iss 2, Pp 255-266 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, Riboflavin, Circadian clock, Medical Physiology, Riboflavin kinase, chemistry.chemical_compound, Mice, Cryptochrome, circadian clock, Glucose homeostasis, heterocyclic compounds, Developmental, CRYPTOCHROME, lcsh:QH301-705.5, Flavin adenine dinucleotide, Protein Stability, Gene Expression Regulation, Developmental, Period Circadian Proteins, Circadian Rhythm, Phosphotransferases (Alcohol Group Acceptor), Biochemistry, Liver, Gene Knockdown Techniques, protein degradation, Flavin-Adenine Dinucleotide, endocrine system, CRY, Mutation, Missense, Biology, Protein degradation, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Circadian Clocks, Animals, Humans, Circadian rhythm, FAD, F-Box Proteins, Phosphotransferases, Cryptochromes, 030104 developmental biology, chemistry, lcsh:Biology (General), Gene Expression Regulation, circadian rhythms, Mutation, Proteolysis, Biochemistry and Cell Biology, Missense, FBXL3, metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe3cd8857b85038fa621a46595782d62Test
https://pubmed.ncbi.nlm.nih.gov/28592378Test

المؤلفون: James W. Maas, Michiko K. Bruno, Steve Frucht, Susan B. Bressman, Henry Houlden, Jacques Rochette, Ewout R. Brunt, Ying-Hui Fu, Mark Hermann, Michael G. Hanna, Christina A. Gurnett, Hsien Yang Lee, Kailash P. Bhatia, Shehla Mohammed, Roberto Caraballo, Joseph Jankovic, Mark Nespeca, Ulrich Müller, Kathryn J. Swoboda, Betül Baykan, Pierre Szepetowski, Sam Tucker, Yong Huang, Wei Ling Lee, Natalio Fejerman, David Renner, Robert H. Edwards, Nadine Bruneau, Bing-Wen Soong, Shinji Saiki, Emily Quinn, Elisha D.O. Roberson, Bernard Echenne, Anne M. Bowcock, Edouard Hirsch, Nicholas W. Wood, Gabrielle Rudolf, Louis J. Ptáček, David A. Lynch, Tetsuo Ashizawa, Patrice Roll

المساهمون: Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM), Laboratoire de Biologie Cellulaire [Hôpital de la Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)

المصدر: Cell Reports
Cell Reports, Elsevier Inc, 2012, 1 (1), pp.2-12. ⟨10.1016/j.celrep.2011.11.001⟩
Cell reports, vol 1, iss 1
Cell Reports, Vol 1, Iss 1, Pp 2-12 (2012)
Cell reports, 1(1), 2-12. CELL PRESS

مصطلحات موضوعية: Central Nervous System, Male, [SDV]Life Sciences [q-bio], Medical Physiology, Mutant, medicine.disease_cause, FAMILIES, Mice, 0302 clinical medicine, Chromosome Segregation, EXOCYTOSIS, 16P12-Q12, lcsh:QH301-705.5, ComputingMilieux_MISCELLANEOUS, Pediatric, Genetics, 0303 health sciences, Mutation, Genome, SNAP25, musculoskeletal system, SUGGESTS, Pedigree, Dystonia, CONFIRMATION, Phenotype, PNKD, cardiovascular system, Female, Sequence Analysis, Protein Binding, Human, Synaptosomal-Associated Protein 25, DNA Copy Number Variations, Molecular Sequence Data, Nerve Tissue Proteins, Biology, Article, General Biochemistry, Genetics and Molecular Biology, DYSTONIC CHOREOATHETOSIS, 03 medical and health sciences, Species Specificity, Seizures, medicine, LINKAGE, LOCUS, Animals, Humans, Amino Acid Sequence, Allele, Alleles, 030304 developmental biology, Benign familial infantile epilepsy, Genome, Human, HUMAN-CHROMOSOME 16, Neurosciences, Membrane Proteins, Sequence Analysis, DNA, DNA, Paroxysmal dyskinesia, medicine.disease, Rats, HEK293 Cells, lcsh:Biology (General), Mutant Proteins, Biochemistry and Cell Biology, Sequence Alignment, 030217 neurology & neurosurgery, PRRT2, GLUT1

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c80ff62525befaab6cbf2e845b361bTest
https://hdl.handle.net/11370/04f13b66-6c74-41e6-9842-fc9760886251Test