المؤلفون: Federico Verde, Antonia Ratti, Barbara Poletti, Vincenzo Silani, Nicola Ticozzi, Cinzia Tiloca, Claudia Morelli, Alberto Doretti, Davide Gentilini, Stefano Messina, Luca Maderna, Isabella Fogh

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 40(7)

مصطلحات موضوعية: Male, Single-nucleotide polymorphism, Dermatology, Disease, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, medicine, SNP, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Amyotrophic lateral sclerosis, Age of Onset, biology, business.industry, Aryldialkylphosphatase, Amyotrophic Lateral Sclerosis, Paraoxonase, General Medicine, Middle Aged, medicine.disease, PON1, Minor allele frequency, Psychiatry and Mental health, Immunology, biology.protein, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe0e8bf56f5719d9ef420c89d942956Test
https://pubmed.ncbi.nlm.nih.gov/30903418Test

المؤلفون: Timothy M. Miller, Jon B. Toledo, Jennifer Farren, Jeffrey D. Rothstein, John Q. Trojanowski, Luc Pregent, Michael G. Heckman, Alessandro Prelle, Aliesha D. O’Raw, Beth K. Rush, Bryan J. Traynor, Laura Braun, Matthew D. Disney, Yari Carlomagno, Veronique V. Belzil, Antonia Ratti, Lilia J. Tabassian, Monica Castanedes-Casey, Dennis W. Dickson, Michael Tierney, John C. van Swieten, Adam L. Boxer, Jeannie Chew, Lauren Elman, Murray Grossman, Emilie A. Perkerson, Mercedes Prudencio, Ana M. Caputo, Frank Rigo, Lillian M. Daughrity, Casey Cook, Otto Pedraza, James D. Berry, David Lacomis, Christina Fournier, Jennifer Jockel-Balsarotti, Leonard Petrucelli, Giovanna Antognetti, Marka van Blitterswijk, Lindsey R. Hayes, Robert H. Brown, Joanne Wuu, Kevin B. Boylan, Jimei Tong, Edythe Wiggs, Amelia Robertson, Linda Rousseau, Karen Jansen-West, Mary Kay Floeter, Yuping Song, John D. Fryer, Tania D Gendron, Robert Bowser, Barbara Poletti, Jennifer D. McBride, Shafeeq Ladha, Federica Solca, Alexander McCampbell, Leo McCluskey, Bruce L. Miller, Weixing Yang, Rosa Rademakers, Virginia Phillips, Chris W. Lee, Mei Yue, Denitza Raitcheva, Carla Palmucci, Jonathan D. Glass, Nancy N. Diehl, Vincenzo Silani, Jeannette N. Stankowski, Pamela Desaro, Cinzia Tiloca, Claudia Morelli, Abhishek Datta, William T. Hu, Yong Jie Zhang, Michael Benatar, Christine Ambrose

المساهمون: Neurology

المصدر: Science Translational Medicine, 9(383):eaai7866. American Association for the Advancement of Science
Science translational medicine, vol 9, iss 383
Science translational medicine

مصطلحات موضوعية: 0301 basic medicine, Oligonucleotides, Neurodegenerative, medicine.disease_cause, Medical and Health Sciences, Mice, 0302 clinical medicine, C9orf72, Leukocytes, Longitudinal Studies, Amyotrophic lateral sclerosis, Dinucleotide Repeats, Neurons, Mutation, Brain, General Medicine, Middle Aged, Biological Sciences, Prognosis, Editorial, Neurological, Adult, Mononuclear, Induced Pluripotent Stem Cells, Clinical Trials and Supportive Activities, Peripheral blood mononuclear cell, Article, Cell Line, 03 medical and health sciences, Rare Diseases, Clinical Research, medicine, Extracellular, Acquired Cognitive Impairment, Genetics, Animals, Humans, Antisense, Biology, Aged, C9orf72 Protein, Oligonucleotide, business.industry, Amyotrophic Lateral Sclerosis, Neurosciences, RNA, Oligonucleotides, Antisense, medicine.disease, Molecular biology, Brain Disorders, 030104 developmental biology, Cancer research, Leukocytes, Mononuclear, Dementia, Human medicine, ALS, Trinucleotide repeat expansion, business, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476c09df1772869d16b8d12d922e0b01Test
https://doi.org/10.1126/scitranslmed.aai7866Test

المؤلفون: Valeria Fugnanesi, Laura Cantù, Fabrizio Tagliavini, Marten Beeg, Mario Salmona, Antonio E. Elia, Davide Pareyson, Giulia Mazzoleni, Antonio Bastone, Michela Morbin, Claudia Morelli, Francesca Del Sorbo, Elena Piccoli, Vincenzo Silani, Ettore Salsano, Alessandra Erbetta, Giacomina Rossi, Simona Motta, Elena Del Favero

المصدر: Neurobiology of Aging. 35:408-417

مصطلحات موضوعية: Male, Aging, Tau protein, tau Proteins, Biology, Polymerization, Microtubule polymerization, medicine, Humans, Protein Isoforms, Missense mutation, Codon, Gene, Aged, Aged, 80 and over, Genetics, Genetic heterogeneity, General Neuroscience, Frontotemporal lobar degeneration, Middle Aged, medicine.disease, Phenotype, Tauopathies, Mutation, RNA splicing, biology.protein, Female, Neurology (clinical), Frontotemporal Lobar Degeneration, Geriatrics and Gerontology, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d4a3f515f5a8d15b5c7af233b569f47Test
https://doi.org/10.1016/j.neurobiolaging.2013.08.004Test

المؤلفون: Peter O. Bauer, Karen Overstreet, Peter K. Todd, Vincenzo Silani, Leonard Petrucelli, Tania F. Gendron, Pamela Desaro, Rosa Rademakers, Veronique V. Belzil, James D. Berry, Matthew D. Disney, Bradley F. Boeve, Zhaoming Su, Antonia Ratti, Mary Kay Floeter, Robert H. Brown, Dennis W. Dickson, Karen Jansen-West, Claudia Morelli, Yong Jie Zhang, Wang Yong Yang, Amelia Johnston, Seok Yoon Oh, Merit Cudkowicz, Jeffrey D. Rothstein, Erik Fostvedt, Bryan J. Traynor, Jeannie Chew, Kevin B. Boylan

المصدر: Neuron

مصطلحات موضوعية: Adult, Male, Neuroscience(all), Nerve Tissue Proteins, Plasma protein binding, Biology, Article, C9orf72, Chlorocebus aethiops, medicine, Animals, Humans, RNA, Small Interfering, Cells, Cultured, Aged, Neurons, DNA Repeat Expansion, C9orf72 Protein, Chemistry, General Neuroscience, Amyotrophic Lateral Sclerosis, RNA, Proteins, Translation (biology), Cell Differentiation, Fibroblasts, Middle Aged, Molecular biology, Small molecule, 3. Good health, G-Quadruplexes, Biomarker, medicine.anatomical_structure, Female, Human medicine, Neuron, Trinucleotide repeat expansion, Neuroscience, Biomarkers, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82290d2e4257962a989e2ef120b91725Test
https://doi.org/10.1016/j.neuron.2014.09.019Test

المؤلفون: Janine Kirby, Hayrettin Tumani, Mamede de Carvalho, Petra Steinacker, Wim Robberecht, Pamela J. Shaw, Markus Otto, Magdalena Kuzma-Kozakiewicz, Philip Van Damme, Albert C. Ludolph, Stefan Lehnert, Vincenzo Silani, Claudia Morelli, Júlia Costa

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

مصطلحات موضوعية: Adult, Male, Oncology, medicine.medical_specialty, Pathology, Neurofilament, Enzyme-Linked Immunosorbent Assay, tau Proteins, S100 Calcium Binding Protein beta Subunit, Statistics, Nonparametric, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Neurofilament Proteins, Internal medicine, Paralysis, medicine, Humans, Cystatin C, Amyotrophic lateral sclerosis, Pathological, Chemokine CCL2, Aged, 030304 developmental biology, 0303 health sciences, Amyloid beta-Peptides, biology, business.industry, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Peptide Fragments, Neurology, biology.protein, Progressive motor neuron disease, Biomarker (medicine), Female, Neurology (clinical), medicine.symptom, business, Biomarkers, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca651707da6adfd039e15b737502c7dTest