المؤلفون: Danny Bergeron, Laurence Faucher-Giguère, Ann-Kathrin Emmerichs, Karine Choquet, Kristina Sungeun Song, Gabrielle Deschamps-Francoeur, Étienne Fafard-Couture, Andrea Rivera, Sonia Couture, L. Stirling Churchman, Florian Heyd, Sherif Abou Elela, Michelle S. Scott

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-25 (2023)

مصطلحات موضوعية: SnoRNA, RNA-RNA interactions, Alternative splicing regulation, SnoRNA/host gene relationship, Nonsense-mediated decay, Cis-regulation, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/9cacce3aeec94e56b9bf6649e0fa23d4

المؤلفون: Karine Choquet, Maxime Pinard, Sharon Yang, Robyn D. Moir, Christian Poitras, Marie-Josée Dicaire, Nicolas Sgarioto, Roxanne Larivière, Claudia L. Kleinman, Ian M. Willis, Marie-Soleil Gauthier, Benoit Coulombe, Bernard Brais

المصدر: Molecular Brain, Vol 12, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Leukodystrophy, RNA polymerase III, Mouse model, POLR3A, POLR3B, Myelination, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13041-019-0479-7; https://doaj.org/toc/1756-6606

URL الوصول: https://doaj.org/article/cbbd2c5dc7884b72a7840efca0d6b4f9

المؤلفون: Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R. Anne McKinney, Alanna J. Watt, Bernard Brais

المصدر: Molecular Brain, Vol 12, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: ARSACS, Purkinje cell, cerebellum, Sacsin, SACS, Ataxia, Mouse model, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13041-019-0438-3; https://doaj.org/toc/1756-6606

URL الوصول: https://doaj.org/article/badcef6e2e4d400aaf08c0ad52d683c0

المؤلفون: Elisabeth Lata, Karine Choquet, Francis Sagliocco, Bernard Brais, Geneviève Bernard, Martin Teichmann

المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)

مصطلحات موضوعية: RNA polymerase III (Pol III), Pol III-related hypomyelinating leukodystrophy (POLR3-HLD), innate immunity, neurodegenerative disease, Pol III subunits (POLR3A, POLR3B, POLR3C, POLR3E, POLR3F, POLR3GL, POLR3H, POLR3K, POLR1C), Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2021.696438/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/854006a57af54359916f1c9b5247f3fe

المؤلفون: Lama Darbelli, Karine Choquet, Stéphane Richard, Claudia L. Kleinman

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/2b87d7231695460a91e0f2f7857ac0f8

المؤلفون: Karine Choquet, Sharon Yang, Robyn D. Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E. Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M. Willis, Claudia L. Kleinman, Bernard Brais

المصدر: Molecular Brain, Vol 10, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: Leukodystrophy, POLR3A, Mouse model, Hypomyelination, RNA Polymerase III, Transfer RNAs, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13041-017-0294-y; https://doaj.org/toc/1756-6606

URL الوصول: https://doaj.org/article/e9fa24610fa84790802d0015fd6a49cd

المؤلفون: Loïc Binan, Javier Mazzaferri, Karine Choquet, Louis-Etienne Lorenzo, Yu Chang Wang, El Bachir Affar, Yves De Koninck, Jiannis Ragoussis, Claudia L. Kleinman, Santiago Costantino

المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/82b7efadde1744799f964a4dd60168bb

المؤلفون: Danya J. Martell, Hope E. Merens, Claudia Fiorini, Alexis Caulier, Jacob C. Ulirsch, Robert Ietswaart, Karine Choquet, Giovanna Graziadei, Valentina Brancaleoni, Maria Domenica Cappellini, Caroline Scott, Nigel Roberts, Melanie Proven, Noémi BA Roy, Christian Babbs, Douglas R. Higgs, Vijay G. Sankaran, L. Stirling Churchman

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::800915e53878822adec809d30f93ead3
https://doi.org/10.1101/2023.03.03.23286760

المؤلفون: Erik McShane, Mary Couvillion, Robert Ietswaart, Gyan Prakash, Brendan M. Smalec, Iliana Soto, Autum R. Baxter-Koenigs, Karine Choquet, L. Stirling Churchman

المصدر: bioRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42b246668b9b51b62a149239740fd4c7
https://europepmc.org/articles/PMC9948965/

المؤلفون: Nicholas J. Kramer, Gyan Prakash, Karine Choquet, Iliana Soto, Boryana Petrova, Hope E. Merens, Naama Kanarek, L. Stirling Churchman

المصدر: bioRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8754467e736fc1201806a2151d50263
https://europepmc.org/articles/PMC9934615/

المؤلفون: Karine Choquet, Jonathan Vappou, Paolo Cabras, Ounay Ishak, Afshin Gangi, Elodie Breton

المساهمون: Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Magnetic Resonance Materials in Physics, Biology and Medicine
Magnetic Resonance Materials in Physics, Biology and Medicine, 2023, ⟨10.1007/s10334-023-01062-6⟩

مصطلحات موضوعية: Radiological and Ultrasound Technology, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Biophysics, Radiology, Nuclear Medicine and imaging

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f03e6a68df5bb745a1de153bdb06cd8a
https://doi.org/10.1007/s10334-023-01062-6

المؤلفون: David, Pellerin, Matt C, Danzi, Carlo, Wilke, Mathilde, Renaud, Sarah, Fazal, Marie-Josée, Dicaire, Carolin K, Scriba, Catherine, Ashton, Christopher, Yanick, Danique, Beijer, Adriana, Rebelo, Clarissa, Rocca, Zane, Jaunmuktane, Joshua A, Sonnen, Roxanne, Larivière, David, Genís, Laura, Molina Porcel, Karine, Choquet, Rawan, Sakalla, Sylvie, Provost, Rebecca, Robertson, Xavier, Allard-Chamard, Martine, Tétreault, Sarah J, Reiling, Sara, Nagy, Vikas, Nishadham, Meera, Purushottam, Seena, Vengalil, Mainak, Bardhan, Atchayaram, Nalini, Zhongbo, Chen, Jean, Mathieu, Rami, Massie, Colin H, Chalk, Anne-Louise, Lafontaine, François, Evoy, Marie-France, Rioux, Jiannis, Ragoussis, Kym M, Boycott, Marie-Pierre, Dubé, Antoine, Duquette, Henry, Houlden, Gianina, Ravenscroft, Nigel G, Laing, Phillipa J, Lamont, Mario A, Saporta, Rebecca, Schüle, Ludger, Schöls, Roberta, La Piana, Matthis, Synofzik, Stephan, Zuchner, Bernard, Brais

المصدر: The New England journal of medicine.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fe677fea1d0dfdfe656c241a91fbbe93
https://pubmed.ncbi.nlm.nih.gov/36516086

المؤلفون: Brendan M. Smalec, Robert Ietswaart, Karine Choquet, Erik McShane, Emma R. West, L. Stirling Churchman

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d9b52650ad23fe24149235f94c301b1e
https://doi.org/10.1101/2022.08.21.504696

المؤلفون: Karine Choquet, Autum Koenigs, Sarah-Luisa Dülk, Brendan M. Smalec, Silvi Rouskin, L. Stirling Churchman

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8159d703f5bef80ebb585e3ab4333453
https://doi.org/10.1101/2022.08.12.503515

المؤلفون: Karine Choquet, Hope E. Merens, Heather L. Drexler, Paul S. Tang, L. Stirling Churchman, Jared T. Simpson

المصدر: Nat Protoc

مصطلحات موضوعية: Transcription, Genetic, Polyadenylation, Sequence analysis, RNA Splicing, Context (language use), Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), RNA Precursors, Animals, Humans, RNA, Messenger, RNA Processing, Post-Transcriptional, 030304 developmental biology, 0303 health sciences, Sequence Analysis, RNA, Chemistry, Intron, RNA, Exons, Introns, Reverse transcriptase, Cell biology, RNA splicing, RNA Polymerase II, 030217 neurology & neurosurgery, Protein Modification, Translational

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1faf809a5d926c324605648892d77e4
https://doi.org/10.1038/s41596-020-00469-y

المؤلفون: David Pellerin, Matt C. Danzi, Carlo Wilke, Mathilde Renaud, Sarah Fazal, Marie-Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genís, Laura Molina Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard-Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin H. Chalk, Anne-Louise Lafontaine, François Evoy, Marie-France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie-Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario A. Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais

المصدر: The New England journal of medicine 388, 128-141 (2022). doi:10.1056/NEJMoa2207406

مصطلحات موضوعية: Canada, genetics [Cerebellar Ataxia], pathology [Friedreich Ataxia], Australia, genetics [Introns], genetics [DNA Repeat Expansion], Humans, General Medicine, ddc:610, pathology [Cerebellar Ataxia], genetics [Friedreich Ataxia]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d4407d5e825b4fbd8d0cfb4927a7a1
https://pub.dzne.de/record/169165

المؤلفون: Ounay Ishak, Elodie Breton, Karine Choquet, Anne Josset, Paolo Cabras, Jonathan Vappou

المساهمون: Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Physics in Medicine and Biology
Physics in Medicine and Biology, In press, ⟨10.1088/1361-6560/acac5e⟩

مصطلحات موضوعية: HIFU therapy, Interventional MRI, Sciences du Vivant [q-bio]/Ingénierie biomédicale, Therapy monitoring, Radiological and Ultrasound Technology, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Radiology, Nuclear Medicine and imaging, [PHYS.MECA.BIOM]Physics [physics]/Mechanics [physics]/Biomechanics [physics.med-ph], MR Elastography, Thermal ablation, Supersonic shear wave, [PHYS.MECA.ACOU]Physics [physics]/Mechanics [physics]/Acoustics [physics.class-ph]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::181e6146eca5512ae117a9acbccaf42f
https://doi.org/10.1088/1361-6560/acac5e

المؤلفون: Benoit Coulombe, Elisabeth Meloche, Geneviève Bernard, Raphael Schiffmann, Claudia L. Kleinman, Marc R. Fabian, Marie-Josée Dicaire, Martin Teichmann, Karine Choquet, Adeline Vanderver, Diane Forget, Bernard Brais

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, RNA polymerase III, leukodystrophy, Down-Regulation, Genes, Recessive, Biology, Biochemistry, Transcriptome, 03 medical and health sciences, chemistry.chemical_compound, CRISPR/Cas, proteomics, brain cytoplasmic 200 RNA (BCYRN1), Transcription (biology), Translational regulation, Humans, RNA, Messenger, Molecular Biology, Gene, 030102 biochemistry & molecular biology, RNA, Molecular Bases of Disease, Cell Biology, Cell biology, transfer RNA (tRNA), myelin, Hereditary Central Nervous System Demyelinating Diseases, 030104 developmental biology, chemistry, Mutation, Transfer RNA, RNA, Long Noncoding, RNA-seq, transcription, oligodendrocyte, DNA, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2acbee3c24d1373ef98044be8c00cc
https://doi.org/10.1074/jbc.ra118.006271

المؤلفون: Martine Tétreault, Yi-Hong Shao, Jason Karamchandani, Stefan Nicolau, Karine Choquet, Eric Bareke, Erin K. O'Ferrall, Bernard Brais

المصدر: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 48(2)

مصطلحات موضوعية: biology, business.industry, Calpain, Sequence Analysis, RNA, MEDLINE, RNA, General Medicine, Bioinformatics, medicine.disease, Neurology, Muscular Dystrophies, Limb-Girdle, Mutation, biology.protein, Medicine, Humans, Neurology (clinical), Muscular dystrophy, business, Muscle, Skeletal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::786fa828b2f8ac8327b016ea2b3930a1
https://pubmed.ncbi.nlm.nih.gov/32646536

المؤلفون: David A. Dyment, Kym M. Boycott, Bernard Brais, Laurence Gauquelin, Sohnee Ahmed, Jacek Majewski, Mark A. Tarnopolsky, Allan Micheil Innes, Martine Tétreault, Samantha K Rojas, Guy A. Rouleau, Francois P. Bernier, Karine Choquet, Michael T. Geraghty, Oksana Suchowersky, Grace Yoon, Taila Hartley

المصدر: Mov Disord Clin Pract

مصطلحات موضوعية: 0301 basic medicine, Disease gene, Pediatrics, medicine.medical_specialty, Ataxia, business.industry, 030105 genetics & heredity, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Neurology, Cohort, medicine, Cerebellar atrophy, Neurology (clinical), Medical diagnosis, medicine.symptom, Prospective cohort study, business, Genetic diagnosis, 030217 neurology & neurosurgery, Exome sequencing, Research Articles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d557b439400a4b1ee400c816343675f
https://pubmed.ncbi.nlm.nih.gov/33163565