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المؤلفون: Louis J. Ptáček, Im C, Voglmaier Sm, Fu Y-H, Nelson A, Thomas A. McMahon, Niesner Kj, Alex J. Fay, Bair-Marshall C, Li H
المصدر: Neurogenetics
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ataxia, Movement disorders, Paroxysmal disorders, Nerve Tissue Proteins, Biology, Mouse model, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, Mice, 0302 clinical medicine, Internal medicine, Genetics, medicine, Animals, Genetics (clinical), Loss function, Dyskinesia, Age Factors, Membrane Proteins, Paroxysmal dyskinesia, medicine.disease, Pedigree, Disease Models, Animal, Dystonia, 030104 developmental biology, Endocrinology, Phenotype, Knockout mouse, Mutation, Original Article, medicine.symptom, 030217 neurology & neurosurgery, PRRT2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0fc07009b76169fc05586ea7ff0a44Test
https://pubmed.ncbi.nlm.nih.gov/34101060Test -
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المؤلفون: Shu-Ting Lin, Louis J. Ptáček, Diya Abraham, Ying-Hui Fu, Henrik Oster, Gregor Eichele, Luoying Zhang
المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, vol 109, iss 50مصطلحات موضوعية: Male, medicine.medical_specialty, Mice, 129 Strain, Aryl hydrocarbon receptor nuclear translocator, Knockout, Photoperiod, Models, Neurological, Circadian clock, 129 Strain, Biology, Inbred C57BL, Strain, Mice, Eating, Models, Internal medicine, medicine, Animals, Circadian rhythm, Protein Kinase C, Protein kinase C, Mice, Knockout, Cerebral Cortex, Multidisciplinary, Protein Stability, Ubiquitination, ARNTL Transcription Factors, Feeding Behavior, Biological Sciences, Null allele, Circadian Rhythm, Cell biology, Mice, Inbred C57BL, CLOCK, Endocrinology, medicine.anatomical_structure, Cerebral cortex, Mutation, Neurological, Signal transduction, Signal Transduction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02185416972364aa023b03d7b003f3efTest
https://doi.org/10.1073/pnas.1218699110Test -
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المؤلفون: Louis J. Ptáček, Shu Ting Lin, Ying Xu, Luoying Zhang, Seiji Nishino, Ying-Hui Fu, Masashi Okuro, Noriko Saigoh, Noriaki Sakai, Krista Kaasik, Maya Yamazaki, Pei Ken Hsu, Kazumasa Saigoh, Thomas A. McMahon, Arisa Hirano, Christopher R. Jones
المصدر: Proceedings of the National Academy of Sciences of the United States of America, vol 113, iss 11
مصطلحات موضوعية: 0301 basic medicine, Male, Circadian clock, Inbred C57BL, Transgenic, Mice, 0302 clinical medicine, circadian clock, Mice, Knockout, Multidisciplinary, Depression, Protein Stability, Advanced sleep phase disorder, PER3, Seasonal Affective Disorder, Period Circadian Proteins, Middle Aged, Sleep in non-human animals, Circadian Rhythm, Mental Health, PNAS Plus, Female, Sleep Research, Psychology, medicine.medical_specialty, Period (gene), Knockout, Photoperiod, Molecular Sequence Data, Mice, Transgenic, 03 medical and health sciences, Sleep Disorders, Circadian Rhythm, Internal medicine, Circadian Clocks, Behavioral and Social Science, Genetics, medicine, Animals, Humans, Circadian rhythm, Amino Acid Sequence, familial advanced sleep phase, Aged, Neurosciences, medicine.disease, Brain Disorders, Mice, Inbred C57BL, Affect, 030104 developmental biology, Endocrinology, Mood, circadian rhythms, Sleep Disorders, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fbee51bbcf83f6c6e02d48e9ef8dd5dTest
https://europepmc.org/articles/PMC4801303Test/ -
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المؤلفون: Brian J. Feldman, Keith R. Yamamoto, Krista Kaasik, Alex Yick Lun So, Katherine C. Krueger, Marco Costa, Louis J. Ptáček, Marlisa L. Pillsbury, Ying-Hui Fu
المصدر: Journal of Biological Chemistry. 286:9063-9070
مصطلحات موضوعية: medicine.medical_specialty, Cellular differentiation, Peroxisome proliferator-activated receptor, Cell fate determination, Biology, Response Elements, Biochemistry, Mice, chemistry.chemical_compound, 3T3-L1 Cells, Adipocyte, Internal medicine, Chlorocebus aethiops, Adipocytes, medicine, Animals, Gene Regulation, Molecular Biology, chemistry.chemical_classification, Regulation of gene expression, Adipogenesis, Mesenchymal stem cell, Period Circadian Proteins, Cell Biology, Cell biology, PPAR gamma, Endocrinology, Gene Expression Regulation, chemistry, Gene Knockdown Techniques, COS Cells, Stem cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814be4ae19be40d7e3ab75ee4af3cd32Test
https://doi.org/10.1074/jbc.m110.164558Test -
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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
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المؤلفون: Georg Auburger, Y. Averyanov, Louis J. Ptáček, Jørgen E. Nielsen, Hubert Kwieciński, Enrico Bertini, Anthony E. Lang, Massimo Pandolfo, Serenella Servidei, P. Van Bogaert, Ying-Hui Fu, Mark Hallett, Andrzej Friedman, B. Sorenson, Hsien-Yang Lee, Michiko K. Bruno, Katrina Gwinn-Hardy
المصدر: Neurology. 68:1782-1789
مصطلحات موضوعية: Adult, Genetic Markers, Male, medicine.medical_specialty, Pediatrics, Adolescent, Genotype, paroxysmal dyskinesia, Paroxysmal nonkinesigenic dyskinesia, DNA Mutational Analysis, Muscle Proteins, Penetrance, Gene mutation, Chorea, Caffeine, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, Child, Dystonia, Ethanol, business.industry, Paroxysmal dyskinesia, medicine.disease, Pedigree, Settore MED/26 - NEUROLOGIA, Endocrinology, PNKD, Dyskinesia, Child, Preschool, Mutation, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Stress, Psychological
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f94f909d5898686c164c1b9fddb141bTest
https://doi.org/10.1212/01.wnl.0000262029.91552.e0Test -
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المؤلفون: David M. Virshup, Christopher R. Jones, Erik J. Eide, Ying-Hui Fu, Yan He, Kong L. Toh, William A. Hinz, Louis J. Ptáček
المصدر: Science. 291:1040-1043
مصطلحات موضوعية: Male, medicine.medical_specialty, Familial advanced sleep phase syndrome, Genetic Linkage, Period (gene), Molecular Sequence Data, Glycine, Mutation, Missense, Biology, Doubletime, Biological Clocks, Sleep Disorders, Circadian Rhythm, Internal medicine, Serine, medicine, Animals, Humans, Missense mutation, Free-running sleep, Amino Acid Sequence, Phosphorylation, Polymorphism, Single-Stranded Conformational, Genetics, Binding Sites, Multidisciplinary, Advanced sleep phase disorder, Chromosome Mapping, Nuclear Proteins, Proteins, Exons, Period Circadian Proteins, medicine.disease, Circadian Rhythm, Pedigree, Circadian rhythm sleep disorder, PER3, Endocrinology, Amino Acid Substitution, Chromosomes, Human, Pair 2, Female, Casein Kinases, Protein Kinases, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e578a39b9f709fafe45a5a46c542db2eTest
https://doi.org/10.1126/science.1057499Test -
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المؤلفون: Ying-Hui Fu, Louis J. Ptáček, William C. Hallows
المصدر: Critical reviews in biochemistry and molecular biology, vol 48, iss 5
مصطلحات موضوعية: medicine.medical_specialty, Biochemistry & Molecular Biology, mouse model, Circadian clock, medicine.disease_cause, Affect (psychology), Biochemistry, sleep behavior, Article, Human genetics, Biological Clocks, Internal medicine, medicine, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, Circadian rhythm, Aetiology, Molecular Biology, Protein Processing, Mutation, business.industry, Neurosciences, Post-Translational, sleep schedule, medicine.disease, Sleep in non-human animals, Circadian Rhythm, Endocrinology, Phenotype, Migraine, Sleep behavior, sleep duration, Biochemistry and Cell Biology, business, Sleep Research, Sleep, Protein Processing, Post-Translational, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900ba8b31a4709e92c0ed2fd28042750Test
https://escholarship.org/uc/item/45h0f22xTest -
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المؤلفون: S. J. Janas, Louis J. Ptáček, Giovanni Meola, Valeria A. Sansone, William A. Scott, Rabi Tawil, Wilson W. Bryan, N. Baker, Susan T. Iannaccone, Richard J. Barohn, D. Ririe, Robert C. Griggs
المصدر: Annals of Neurology. 42:305-312
مصطلحات موضوعية: medicine.medical_specialty, Andersen Syndrome, business.industry, Periodic paralysis, medicine.disease, QT interval, Hypokalemia, Endocrinology, Andersen–Tawil syndrome, Neurology, Channelopathy, Hypokalemic periodic paralysis, Internal medicine, medicine, Paralysis, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6c73af1de814838c14b0c68dd7862bffTest
https://doi.org/10.1002/ana.410420306Test -
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المؤلفون: Corrado Angelini, P. Van den Bergh, K. Alderson, Rabi Tawil, Marinos C. Dalakas, G. T. Fouad, Jerry R. Mendell, N. Weinberg, Serenella Servidei, Ronald G. Gregg, Kirk J. Hogan, Patricia A. Powers, Robert C. Griggs, Louis J. Ptáček, W. Malonee
المصدر: Neuromuscular Disorders. 7:33-38
مصطلحات موضوعية: Adult, Male, Proband, Periodicity, medicine.medical_specialty, Adolescent, Calcium Channels, L-Type, Genotype, Muscle Proteins, Hypokalemia, Gene mutation, Biology, medicine.disease_cause, Exon, Hypokalemic periodic paralysis, Internal medicine, medicine, Paralysis, Humans, Child, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Genetics, Muscle weakness, Mutation, medicine.disease, Phenotype, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Calcium Channels, Neurology (clinical), Age of onset, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6afdd935d1011763a43bc4564b0ba221Test
https://doi.org/10.1016/s0960-8966Test(96)00401-4