المؤلفون: Philippine C. Geiszler, Rebecca C. Trueman, Tushar K. Ghosh, Marzena Wojciechowska, David H. Drewry, Ami Ketley, Martin Rüdiger, Marcus Bantscheff, Zhen Zhi Tang, Rudolf Billeter-Clark, Naveed Altaf Malik, Danuta E. Mossakowska, Sonja Ghidelli-Disse, Paulina K. Powalowska, Othman Ahmad Othman, Markus Bösche, Christopher J. Hayes, Charles A. Thornton, Matthew K Tanner, Marta Lopez Morato, William J. Zuercher, Gerard Drewes, J. David Brook, Saam Sedehizadeh, Alessandra Agostini, Paul Bamborough, Iain Uings

المصدر: Science Translational Medicine. 12

مصطلحات موضوعية: Untranslated region, RNA Splicing, RNA, General Medicine, Biology, medicine.disease, Myotonia, Myotonic dystrophy, Cyclin-Dependent Kinases, Disease Models, Animal, Mice, RNA splicing, Cancer research, medicine, Animals, Humans, Myotonic Dystrophy, Trinucleotide Repeat Expansion, Protein kinase A, Trinucleotide repeat expansion, CDK12

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b34d18f2b5a4f68fe67901b5ca4b8cTest
https://doi.org/10.1126/scitranslmed.aaz2415Test

المؤلفون: Villa C., Legato M., Umbach A., Riganti C., Jones R., Martini B., Boido M., Medana C., Facchinetti I., Barni D., Pinto M., Arguello T., Belicchi M., Fagiolari G., Liaci C., Moggio M., Ruffo R., Moraes C. T., Monguzzi A., Merlo G. R., Torrente Y.

المساهمون: Villa, C, Legato, M, Umbach, A, Riganti, C, Jones, R, Martini, B, Boido, M, Medana, C, Facchinetti, I, Barni, D, Pinto, M, Arguello, T, Belicchi, M, Fagiolari, G, Liaci, C, Moggio, M, Ruffo, R, Moraes, C, Monguzzi, A, Merlo, G, Torrente, Y

مصطلحات موضوعية: Animal, Disease Models, Gold, Human, Mice, Reactive Oxygen Specie, Trinucleotide Repeat Expansion, Friedreich Ataxia

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34408077; info:eu-repo/semantics/altIdentifier/wos/WOS:000686429700003; volume:13; issue:607; journal:SCIENCE TRANSLATIONAL MEDICINE; http://hdl.handle.net/10281/325665Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113361510

الإتاحة: https://doi.org/10.1126/scitranslmed.abe1633Test
http://hdl.handle.net/10281/325665Test

المؤلفون: Yari Carlomagno, Paola Giunti, Yuping Song, Bjorn Oskarsson, Jan O. Aasly, Rana Hanna Al-Shaikh, Robin Labrum, Zbigniew K. Wszolek, James M. Polke, João Lemos, Henry L. Paulson, Guojun Bu, Eric R. Eggenberger, Karen Jansen-West, William D. Freeman, Hector Garcia-Moreno, Mercedes Prudencio, Marka van Blitterswijk, Osamu Onodera, Joseph H. Friedman, Ryan J. Uitti, Inês Gomes, Hayley S. McLoughlin, Mark S. LeDoux, Takuya Konno, Venka Veerappan, Nathan P. Staff, Leonard Petrucelli, John N. Caviness, Cristina Januário, Tania F. Gendron, Lillian M. Daughrity, Mari Tada, Iris Vanessa Marin Collazo, Andreas Puschmann, Takeshi Ikeuchi, Katharine Nicholson, Josephine F. Huang, Klaas J. Wierenga, Sorina Gorcenco, Christin Karremo, Matthew R. Spiegel, Akiyoshi Kakita, Jay A. van Gerpen, Judith A. Dunmore, Ronald F. Pfeiffer, Philip W. Tipton, John D. Fryer, Mark R. Pittelkow, Vikram G. Shakkottai, Natalie Byron, Michael G. Heckman

المصدر: Sci Transl Med

مصطلحات موضوعية: Neurons, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurology, business.industry, Mutant, Machado-Joseph Disease, General Medicine, medicine.disease, Bioinformatics, Article, Repressor Proteins, Clinical trial, Polymorphism (computer science), Spinocerebellar ataxia, medicine, Humans, Allele, Ataxin-3, business, Trinucleotide repeat expansion, Gene, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4d7c23f470476850b4410f48d991683Test
https://doi.org/10.1126/scitranslmed.abb7086Test

المؤلفون: Mercedes Prudencio, Aishe Kurti, Jeannette N. Stankowski, Dennis W. Dickson, Linda Rousseau, Emilie A. Perkerson, Yong Jie Zhang, Tania F. Gendron, Ena C. Whitelaw, Dieter Edbauer, Peter O. Bauer, Karen Overstreet, Lillian M. Daughrity, Leonard Petrucelli, Pamela Desaro, Karen Jansen-West, Kevin F. Bieniek, John D. Fryer, Melissa E. Murray, Amelia Johnston, Rosa Rademakers, Monica Castanedes-Casey, Chris W. Lee, Hiroki Sasaguri, Caroline Stetler, Jeannie Chew, Kevin B. Boylan

المصدر: Science

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Multidisciplinary, Neurodegeneration, Cerebellar Purkinje cell, Biology, medicine.disease, Astrogliosis, C9orf72 Protein, C9orf72, medicine, Amyotrophic lateral sclerosis, Trinucleotide repeat expansion, Engineering sciences. Technology, Frontotemporal dementia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9340e0776496c05cc423327f356727d5Test
https://doi.org/10.1126/science.aaa9344Test

المؤلفون: Stella M. Hurtley

المصدر: Science. 363:703.12-705

مصطلحات موضوعية: Open reading frame, Multidisciplinary, Heterochromatin, C9orf72, Gene expression, Neurodegeneration, medicine, Chromosome 9, Amyotrophic lateral sclerosis, Biology, medicine.disease, Trinucleotide repeat expansion, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3e001a294391d3d53715f2cebc5246dTest
https://doi.org/10.1126/science.363.6428.703-lTest

المؤلفون: Stella M. Hurtley

المصدر: Science. 348:1102-1104

مصطلحات موضوعية: Multidisciplinary, C9orf72, business.industry, Neurodegeneration, medicine, Disease, Amyotrophic lateral sclerosis, Trinucleotide repeat expansion, medicine.disease, business, Neuroscience, Frontotemporal dementia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b81d3412bde13e5472782aeccb2d288dTest
https://doi.org/10.1126/science.348.6239.1102-kTest

المؤلفون: Steven M. Hersch, M. Maral Mouradian, Hyunkyung Jeong, April M. Griffin, Dimitri Krainc, Yong Man Kim, Anthone W. Dunah, Anne B. Young, Naoko Tanese, David G. Standaert

المصدر: Science. 296:2238-2243

مصطلحات موضوعية: Huntingtin, Transcription, Genetic, Mice, Promoter Regions, Genetic, Cells, Cultured, Neurons, Genetics, Regulation of gene expression, Huntingtin Protein, Multidisciplinary, Cell Death, Brain, Nuclear Proteins, Polyglutamine tract, Cell biology, DNA-Binding Proteins, Huntington Disease, congenital, hereditary, and neonatal diseases and abnormalities, Sp1 Transcription Factor, Down-Regulation, Mice, Transgenic, Nerve Tissue Proteins, Biology, Transfection, Cell Line, Huntington's disease, SETD2, Two-Hybrid System Techniques, mental disorders, Coactivator, medicine, Animals, Humans, Cell Nucleus, TATA-Binding Protein Associated Factors, Receptors, Dopamine D2, DNA, medicine.disease, Corpus Striatum, Rats, nervous system diseases, Gene Expression Regulation, Solubility, nervous system, Mutation, Transcription Factor TFIID, Caudate Nucleus, Peptides, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2f4301a50d6c49e250b7c108c1e8cbeTest
https://doi.org/10.1126/science.1072613Test

المؤلفون: Michael J. McDonald, Jun-Yi Leu, Shin Yen Chong, Yen-Hsin Yu, Cheng-Fu Kao, Jheng-Fen Guo

المصدر: Science Advances

مصطلحات موضوعية: DNA Replication, 0301 basic medicine, repeat sequence, Mutation rate, Guanine, Saccharomyces cerevisiae Proteins, Transcription, Genetic, Inverted repeat, homologous recombination, Saccharomyces cerevisiae, Biology, Models, Biological, 03 medical and health sciences, Mutation Rate, evolution, Genetics, translesion synthesis, Research Articles, Suppressor mutation, DNA Repeat Expansion, Multidisciplinary, Point mutation, SciAdv r-articles, mutator, Sequence Analysis, DNA, Rad52 DNA Repair and Recombination Protein, 030104 developmental biology, Mutagenesis, Tandem Repeat Sequences, Mutation, Dynamic mutation, Mutation at a distance, Homologous recombination, Trinucleotide repeat expansion, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a865b166cd3ec51dacb1af1c8029db1Test
https://doi.org/10.1126/sciadv.1501033Test

المؤلفون: Eric L. Logigian, Carolyn McClain, Linda M. Callahan, Matt Krym, Ami Mankodi, Robert J. White, Charles A. Thornton, Don Henderson

المصدر: Science. 289:1769-1772

مصطلحات موضوعية: Untranslated region, congenital, hereditary, and neonatal diseases and abnormalities, RNA Splicing, Action Potentials, Mice, Transgenic, Protein Serine-Threonine Kinases, Biology, Myotonic dystrophy, Myotonin-Protein Kinase, CELF1 Protein, Mice, chemistry.chemical_compound, medicine, Animals, Humans, Myotonic Dystrophy, MBNL1, RNA, Messenger, Transgenes, Muscular dystrophy, Muscle, Skeletal, 3' Untranslated Regions, In Situ Hybridization, Fluorescence, Cell Nucleus, Multidisciplinary, Three prime untranslated region, Myotonin-protein kinase, medicine.disease, Molecular biology, Actins, Disease Models, Animal, Phenotype, chemistry, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2705193bc4a40c6c9aa5364b030333Test
https://doi.org/10.1126/science.289.5485.1769Test

المؤلفون: Laura M. Zahn

المصدر: Science. 360:1199.5-1200

مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, Multidisciplinary, Huntingtin, Population, Inheritance (genetic algorithm), Disease, Heritability, Biology, Human genetics, nervous system diseases, mental disorders, Trinucleotide repeat expansion, education, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::77fbc994fd4ca3b5b7dc68f21d603bf3Test
https://doi.org/10.1126/science.360.6394.1199-eTest