المؤلفون: Meredith A. Mortberg, Sonia M. Vallabh, Eric Vallabh Minikel

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/b9a12cecd76a46e6bb537693db64d777

المؤلفون: Meredith A Mortberg, Eric Vallabh Minikel, Sonia M Vallabh

المصدر: PLoS Pathogens, Vol 18, Iss 8, p e1010728 (2022)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7366; https://doaj.org/toc/1553-7374

URL الوصول: https://doaj.org/article/e6110af9614a4eb08462a10b9951bf72

المؤلفون: Sonia M. Vallabh, Eric Vallabh Minikel, Victoria J. Williams, Becky C. Carlyle, Alison J. McManus, Chase D. Wennick, Anna Bolling, Bianca A. Trombetta, David Urick, Chloe K. Nobuhara, Jessica Gerber, Holly Duddy, Ingolf Lachmann, Christiane Stehmann, Steven J. Collins, Kaj Blennow, Henrik Zetterberg, Steven E. Arnold

المصدر: BMC Medicine, Vol 18, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Neurodegenerative disease, Cerebrospinal fluid, Biomarkers, Prion, Primary prevention, Clinical trial design, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12916-020-01608-8; https://doaj.org/toc/1741-7015

URL الوصول: https://doaj.org/article/c2ff48a1966d476381115596ca11dda2

المؤلفون: Meredith A. Mortberg, Hien T. Zhao, Andrew G. Reidenbach, Juliana E. Gentile, Eric Kuhn, Jill O’Moore, Patrick M. Dooley, Theresa R. Connors, Curt Mazur, Shona W. Allen, Bianca A. Trombetta, Alison McManus, Matthew R. Moore, Jiewu Liu, Deborah E. Cabin, Holly B. Kordasiewicz, Joel Mathews, Steven E. Arnold, Sonia M. Vallabh, Eric Vallabh Minikel

المصدر: JCI Insight, Vol 7, Iss 6 (2022)

مصطلحات موضوعية: Neuroscience, Therapeutics, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/55c56ea359e34e3f8a0d1b5825c838ee

المؤلفون: Andrew G. Reidenbach, Eric Vallabh Minikel, Hien T. Zhao, Stacy G. Guzman, Alison J. Leed, Michael F. Mesleh, Holly B. Kordasiewicz, Stuart L. Schreiber, Sonia M. Vallabh

المصدر: Biomolecules; Volume 10; Issue 1; Pages: 1

مصطلحات موضوعية: prion, antisense oligonucleotide, biomarker, cerebrospinal fluid, neurodegeneration, isothermal titration calorimetry, dynamic light scattering, nuclear magnetic resonance

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Natural and Bio-inspired Molecules; https://dx.doi.org/10.3390/biom10010001

الاتاحة: https://doi.org/10.3390/biom10010001

المؤلفون: Sonia M Vallabh, José Brandão-Neto, Maria Cristina Nonato, R. Talon, Leandro Oliveira Bortot, Armin Wagner, Stuart L. Schreiber, Frank von Delft, Eric Vallabh Minikel, Kamel El Omari, Andrew G. Reidenbach, Francesca A. Pavlovici, V.L. Rangel

المصدر: Biochimie

مصطلحات موضوعية: Amyloid, Chemistry, Drug discovery, animal diseases, Disulfide bond, General Medicine, Crystallography, X-Ray, Biochemistry, Article, nervous system diseases, Domain (software engineering), Molecular dynamics, Protein Domains, Native state, Biophysics, Humans, PrPC Proteins, Prion protein, Protein Structure, Quaternary, Conformational isomerism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de813cc0d90d872c3a5f3d5f0fac896f
https://doi.org/10.1016/j.biochi.2021.09.005

المؤلفون: Meredith A Mortberg, Juliana E Gentile, Naeem M Nadaf, Charles Vanderburg, Sean Simmons, Dan Dubinsky, Adam Slamin, Salome Maldonado, Caroline L Petersen, Nichole Jones, Holly B Kordasiewicz, Hien T Zhao, Sonia M Vallabh, Eric Vallabh Minikel

المصدر: bioRxiv

مصطلحات موضوعية: Genetics, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e6a0a8fdc2a55ad8c5cb4174924d46
https://doi.org/10.1101/2023.02.14.528473

المؤلفون: Sonia M Vallabh, Dan Zou, Rose Pitstick, Jill O’Moore, Janet Peters, Derek Silvius, Jasna Kriz, Walker S Jackson, George A Carlson, Eric Vallabh Minikel, Deborah E Cabin

مصطلحات موضوعية: Virology, Insect Science, Immunology, Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy), drug development, neurodegeneration, prion, Microbiology, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2a55bf9cfa1e6852f596d58e0cb6d3c
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-191741

المؤلفون: Sonia M Vallabh, Arthur J. Campbell, Jayme L. Dahlin, Michael F. Mesleh, Kong T. Nguyen, Dominick Casalena, S. Kirk Wright, Dmitry L. Usanov, Christopher T. Lemke, Jamie A. Moroco, Joshua R. Sacher, Andrew G. Reidenbach, Murugappan Sathappa, Om K. Shrestha, Eric Vallabh Minikel, Jenna B. Yehl, Douglas S. Auld, Stuart L. Schreiber, V.L. Rangel, Alix I. Chan, Rishi N. Shah, Maria Cristina Nonato, David R. Liu, Florence F. Wagner, Alison Leed, Virendar K. Kaushik

المصدر: J Biol Chem

مصطلحات موضوعية: 0301 basic medicine, Benzimidazole, Magnetic Resonance Spectroscopy, animal diseases, In silico, Drug Evaluation, Preclinical, Biochemistry, Prion Proteins, Prion Diseases, Small Molecule Libraries, 03 medical and health sciences, chemistry.chemical_compound, Drug Discovery, Screening method, Humans, Native protein, Prion protein, Molecular Biology, 030102 biochemistry & molecular biology, Drug discovery, Cell Biology, Progressive neurodegenerative disorder, Small molecule, nervous system diseases, 030104 developmental biology, chemistry, Saturation transfer, Benzimidazoles, Molecular Biophysics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec8fc34d169f5f23f5d3171c3a119372
https://doi.org/10.1074/jbc.ra120.014905

المؤلفون: Stuart L. Schreiber, Eric Vallabh Minikel, Eric S. Lander, Sonia M Vallabh

المصدر: The Lancet Neurology. 19:361-368

مصطلحات موضوعية: 0301 basic medicine, Disease onset, Prions, business.industry, Disease agent, Neurodegenerative Diseases, Single gene, Disease, Bioinformatics, Prion Proteins, Prion Diseases, nervous system diseases, Clinical trial, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Animals, Humans, Medicine, Neurology (clinical), Prion protein, Age of onset, business, Biomarkers, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fbf7ed281f49818b6a4238e7c60d87e
https://doi.org/10.1016/s1474-4422(19)30403-x

المؤلفون: Meredith A. Mortberg, Hien T. Zhao, Andrew G. Reidenbach, Juliana E. Gentile, Eric Kuhn, Jill O’Moore, Patrick M. Dooley, Theresa R. Connors, Curt Mazur, Shona W. Allen, Bianca A. Trombetta, Alison McManus, Matthew R. Moore, Jiewu Liu, Deborah E. Cabin, Holly B. Kordasiewicz, Joel Mathews, Steven E. Arnold, Sonia M. Vallabh, Eric Vallabh Minikel

المصدر: JCI insight. 7(6)

مصطلحات موضوعية: Mice, Genotype, Prions, Animals, Humans, General Medicine, Biomarkers, Prion Proteins, Prion Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::455d984b94d2b103b2753c34cf9aff46
https://pubmed.ncbi.nlm.nih.gov/35133987

المؤلفون: Meredith A Mortberg, Hien T Zhao, Andrew G Reidenbach, Juliana E Gentile, Eric Kuhn, Jill O’Moore, Patrick M Dooley, Theresa R Connors, Curt Mazur, Shona W Allen, Bianca A Trombetta, Alison McManus, Matthew R Moore, Jiewu Liu, Deborah E Cabin, Holly B Kordasiewicz, Joel Mathews, Steven E Arnold, Sonia M Vallabh, Eric Vallabh Minikel

مصطلحات موضوعية: medicine.diagnostic_test, animal diseases, Central nervous system, Biology, nervous system diseases, PRNP, Cerebrospinal fluid, medicine.anatomical_structure, Immunoassay, Pharmacodynamics, Immunology, Parenchyma, Genotype, medicine, Biomarker (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19bb23600f08e727e17bcbc59299d67b
https://doi.org/10.1101/2021.11.01.21265619

المؤلفون: Anne H. O’Donnell-Luria, Monkol Lek, James S. Ware, Kristen M. Laricchia, Benjamin M. Neale, Stacey Donnelly, Irina M. Armean, Jack A. Kosmicki, Stacey Gabriel, Christopher Vittal, David Roazen, Daniel R. Rhodes, Charlotte Tolonen, Matthew Solomonson, Laura D. Gauthier, Qingbo Wang, Andrea Ganna, Raymond K. Walters, Konrad J. Karczewski, Steven Ferriera, Thibault Jeandet, Jessica Alföldi, Mark J. Daly, Kristen M. Connolly, Kristian Cibulskis, Sam Novod, Timothy Poterba, Jeff Gentry, Yossi Farjoun, Moriel Singer-Berk, Diane Kaplan, Harrison Brand, Cotton Seed, Kaitlin E. Samocha, Michael E. Talkowski, Laurent C. Francioli, Molly Schleicher, Miguel Covarrubias, Jessica X. Chong, Christopher Llanwarne, Kathleen Tibbetts, Andrea Saltzman, Beryl B. Cummings, Grace Tiao, Sanna Gudmundsson, Nikelle Petrillo, Nicholas A. Watts, Jose Soto, Arcturus Wang, Daniel G. MacArthur, Valentin Ruano-Rubio, Eric Banks, Daniel P. Birnbaum, Eleanor G. Seaby, Ruchi Munshi, Gordon Wade, Nicola Whiffin, Louis Bergelson, Namrata Gupta, Eleina M. England, Katherine Tashman, Ryan L. Collins, Zachary Zappala, Emma Pierce-Hoffman, Eric Vallabh Minikel, Ben Weisburd

المصدر: Nature

مصطلحات موضوعية: Adult, Male, Biology, Cohort Studies, Mutation Rate, Loss of Function Mutation, Databases, Genetic, Exome Sequencing, Humans, Exome, Genetic Predisposition to Disease, RNA, Messenger, Genes, Essential, Multidisciplinary, Whole Genome Sequencing, Genome, Human, Spectrum (functional analysis), Brain, Genetic Variation, Reproducibility of Results, Addendum, Rare variants, Constraint (information theory), Variation (linguistics), Cardiovascular Diseases, Female, Proprotein Convertase 9, Medical genomics, Algorithm, Genome-Wide Association Study

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4282a8c49253b8d2aa58f13df5b003ff
https://eprints.soton.ac.uk/468341/

المؤلفون: Paul Cannon, Kalpana M. Merchant, Jamie L. Marshall, Jung-Jin Lee, Nicola Whiffin, Danish Saleheen, Anna Guan, Tõnu Esko, Qingbo Wang, Aki S. Havulinna, Cole Whiteman, Daniel G. MacArthur, Christina M. Hultman, Carlos N. Pato, Ruth J. F. Loos, Marco A. S. Baptista, Babak Alipanahi, Mark J. Daly, Kristen M. Laricchia, Irina M. Armean, Aaron Kleinman, James S. Ware, Beryl B. Cummings, Nicholas M Quaife, Laurent C. Francioli, Lili Milani, Konrad J. Karczewski, Jessica Alföldi, Julia K. Goodrich, Patrick F. Sullivan, Genome Aggregation Database Production Team, Eric Vallabh Minikel, Peter Morrison, Aarno Palotie, Bozenna Iliadou, Joanne B. Cole, Michele T. Pato, Girish N. Nadkarni

المساهمون: Medicum, Institute for Molecular Medicine Finland, Complex Disease Genetics, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Helsinki Institute of Life Science HiLIFE, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, University Management, Biostatistics Helsinki, HUS Helsinki and Uusimaa Hospital District, Tampere University, Clinical Medicine, Department of Clinical Chemistry, Imper, Rosetrees Trust, Wellcome Trust

مصطلحات موضوعية: 0301 basic medicine, Male, ved/biology.organism_classification_rank.species, Research & Experimental Medicine, Genome, 0302 clinical medicine, PARKINSONS-DISEASE, Loss of Function Mutation, EPIDEMIOLOGY, Myocytes, Cardiac, Lymphocytes, 11 Medical and Health Sciences, Biological Specimen Banks, Genetics, Aged, 80 and over, Drug discovery, Genome Aggregation Database Production Team, Parkinson Disease, General Medicine, Middle Aged, LRRK2, 3. Good health, Phenotype, Medicine, Research & Experimental, Gain of Function Mutation, Female, Life Sciences & Biomedicine, Adult, Biochemistry & Molecular Biology, Heterozygote, Longevity, Immunology, Genomics, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, 23andMe Research Team, General Biochemistry, Genetics and Molecular Biology, Cell Line, 03 medical and health sciences, Humans, COHORT, Kinase activity, Model organism, Gene, Loss function, Embryonic Stem Cells, Aged, Science & Technology, ved/biology, Cell Biology, the 23andMe Research Team, GENE, nervous system diseases, 030104 developmental biology, Genome Aggregation Database Consortium, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, DISEASE-ASSOCIATED MUTATIONS, 030217 neurology & neurosurgery

وصف الملف: fulltext

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c561587579bf49d7e8186937ea3476
http://hdl.handle.net/10138/317759

المؤلفون: Angharad M. Roberts, Alexander Ing, Helen Sage, Paul J.R. Barton, Daniel G. MacArthur, Birgit Funke, Steven M. Harrison, Eric Vallabh Minikel, Konrad J. Karczewski, Nicola Whiffin, Roddy Walsh, Stuart A. Cook, James S. Ware, K Thomson, Anne H. O’Donnell-Luria, Zach Zappala

المساهمون: Fondation Leducq, British Heart Foundation, Wellcome Trust, Department of Health, Royal Brompton & Harefield NHS Foundation Trust

المصدر: The American Journal of Human Genetics. 104:187-190

مصطلحات موضوعية: Genetics & Heredity, Science & Technology, Genome, Genetic Variation, High resolution, 11 Medical And Health Sciences, Computational biology, 06 Biological Sciences, Biology, Genetic architecture, Interpretation (model theory), Genetic variation, Prevalence, Genetics, Letters to the Editor, Life Sciences & Biomedicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd31f6b8efd6e5d42a11df5ec4030234
https://doi.org/10.1016/j.ajhg.2018.11.012

المؤلفون: Sonia M Vallabh, Jacquelyn Stathopoulos, Samantha Graffam, Deborah E Cabin, Rose Pitstick, Tyler Caron, George A. Carlson, Jeffrey B. Carroll, Rhonda O’Keefe, Hien T Zhao, Jiyan Ma, Holly B. Kordasiewicz, Jae Beom Kim, Debbie McKenzie, Jason Le, Michael P Kavanaugh, Eric Vallabh Minikel, Holger Wille, Jasna Kriz, Stuart L. Schreiber, Jill O'Moore, Katsumi Doh-ura, Matthew Beck, Judd M. Aiken

المصدر: Nucleic Acids Research

مصطلحات موضوعية: AcademicSubjects/SCI00010, animal diseases, NAR Breakthrough Article, Disease, Neuropathology, Biology, Prion Proteins, Cell Line, Prion Diseases, Mice, 03 medical and health sciences, Therapeutic approach, 0302 clinical medicine, Genetics, Animals, Medicine, Dosing, Prion protein, Pathological, Neuroinflammation, 030304 developmental biology, 0303 health sciences, Surrogate endpoint, business.industry, Brain, Heterozygote advantage, Oligonucleotides, Antisense, nervous system diseases, 3. Good health, Mice, Inbred C57BL, RNAi Therapeutics, Immunology, Biomarker (medicine), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a83f52ed969a327263d04ee6f67bc11
https://doi.org/10.1101/2020.03.27.011940

المؤلفون: Eric Vallabh Minikel, Sonia M Vallabh

المصدر: Nature Reviews Neurology. 17:5-6

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, animal diseases, MEDLINE, Disease, nervous system diseases, PRNP, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Drug development, Medicine, Neurology (clinical), Genetic risk, Prion protein, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f4cf9235fce884cc9bc5d36a5ab944b1
https://doi.org/10.1038/s41582-020-00433-0

المؤلفون: Michael F. Mesleh, Sonia M Vallabh, Holly B. Kordasiewicz, Stacy G Guzman, Andrew G. Reidenbach, Stuart L. Schreiber, Hien T Zhao, Eric Vallabh Minikel, Alison Leed

المصدر: Biomolecules
Volume 10
Issue 1

مصطلحات موضوعية: 0301 basic medicine, antisense oligonucleotide, RNase P, animal diseases, Biochemistry, Article, cerebrospinal fluid, Prion Proteins, law.invention, prion, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, law, In vivo, medicine, Humans, Molecular Biology, 030304 developmental biology, 0303 health sciences, Chemistry, Neurodegeneration, neurodegeneration, RNA, Isothermal titration calorimetry, dynamic light scattering, Oligonucleotides, Antisense, medicine.disease, In vitro, Recombinant Proteins, Cell biology, 3. Good health, nervous system diseases, isothermal titration calorimetry, nuclear magnetic resonance, Kinetics, 030104 developmental biology, Mechanism of action, 030220 oncology & carcinogenesis, Recombinant DNA, biomarker, medicine.symptom, 030217 neurology & neurosurgery, HeLa Cells, Protein Binding

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67c2f45fbbe246f8fb9e20d166b75519
http://europepmc.org/articles/PMC7022474

المؤلفون: Eric Kuhn, Piero Parchi, Jiri G. Safar, Rhonda O’Keefe, Alexandra R. Cocco, Sabina Capellari, Andrew G. Reidenbach, Eric Vallabh Minikel, Inga Zerr, Franc Llorens, Gregory J. Raymond, Stuart L. Schreiber, Christina R. Hartigan, Michael D. McCarthy, Sonia M Vallabh, Steven A. Carr

المساهمون: Minikel E.V., Kuhn E., Cocco A.R., Vallabh S.M., Hartigan C.R., Reidenbach A.G., Safar J.G., Raymond G.J., McCarthy M.D., O'Keefe R., Llorens F., Zerr I., Capellari S., Parchi P., Schreiber S.L., Carr S.A.

المصدر: Mol Cell Proteomics

مصطلحات موضوعية: multiple reaction monitoring, animal diseases, Enzyme-Linked Immunosorbent Assay, Pharmacology, Biochemistry, cerebrospinal fluid, Mass Spectrometry, Prion Proteins, Analytical Chemistry, law.invention, Prion Diseases, prion, 03 medical and health sciences, Mice, 0302 clinical medicine, Cerebrospinal fluid, neurodegenerative disease, Downregulation and upregulation, Drug Development, law, Medicine, Animals, Humans, Prion protein, Molecular Biology, 030304 developmental biology, 0303 health sciences, biomarker: diagnostic, business.industry, Research, 030302 biochemistry & molecular biology, Selected reaction monitoring, Targeted mass spectrometry, Creutzfeldt-Jakob disease, 3. Good health, nervous system diseases, Rats, Macaca fascicularis, Drug development, Pharmacodynamics, Recombinant DNA, Biomarker (medicine), business, 030217 neurology & neurosurgery, Intracellular

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a4c00f75b80f2f56fc53eca258f1ab
https://europepmc.org/articles/PMC6885701/

المؤلفون: Samantha Graffam, Stuart L. Schreiber, Holly Kordasiewicz, Hien T Zhao, Brent Race, Eric E. Swayze, Byron Caughey, Jason Le, Lori L. Lubke, Katie Williams, Rhonda O’Keefe, Jacquelyn Stathopoulos, Andrew G. Reidenbach, Gregory J. Raymond, Deborah E Cabin, Tyler Caron, Eric Vallabh Minikel, Curt Mazur, Allison Kraus, Lynne D. Raymond, Jeffrey B. Carroll, Sonia M Vallabh

المصدر: JCI Insight

مصطلحات موضوعية: 0301 basic medicine, Prions, Genetic enhancement, animal diseases, Disease, Therapeutics, Pharmacology, Prion Diseases, 03 medical and health sciences, Mice, 0302 clinical medicine, Bolus (medicine), Gene therapy, In vivo, Drug Discovery, medicine, Animals, Neurodegeneration, business.industry, Brain, General Medicine, Genetic Therapy, Oligonucleotides, Antisense, medicine.disease, 3. Good health, nervous system diseases, Mice, Inbred C57BL, Survival Rate, Disease Models, Animal, 030104 developmental biology, Mechanism of action, Tolerability, 030220 oncology & carcinogenesis, Drug delivery, Female, medicine.symptom, business, Research Article, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2318f227c770d1c1bfab0eed97f7ddab
http://europepmc.org/articles/PMC6777807