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1دورية أكاديمية
المؤلفون: Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
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
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المؤلفون: Patrick Cossette, Kristopher T. Kahle, Liliya Silayeva, Alexandre Dionne-Laporte, Patrick A. Dion, Dan Spiegelman, Cynthia V. Bourassa, Tarek Z. Deeb, Nancy D. Merner, Philip Awadalla, Jacek Majewski, Yuze Shang, Stephen J. Moss, Brian P. Walcott, Arjun Khanna, Alan Hodgkinson, Bo Liang, Igor Medina, Annie Levert, Guy A. Rouleau, Hamid Nikbakht, Perrine Friedel, Pamela Lachance-Touchette
المصدر: EMBO reports. 15:766-774
مصطلحات موضوعية: Models, Molecular, Protein Conformation, ved/biology.organism_classification_rank.species, Action Potentials, Biology, medicine.disease_cause, Hippocampus, Biochemistry, Cell Line, Idiopathic generalized epilepsy, Serine, Chlorides, Gene Frequency, Genetics, medicine, Animals, Humans, Protein Interaction Domains and Motifs, Phosphorylation, Model organism, Molecular Biology, Alleles, Mutation, Symporters, GABAA receptor, ved/biology, Pyramidal Cells, Scientific Reports, Quebec, Genetic Variation, medicine.disease, Rats, Case-Control Studies, Symporter, Epilepsy, Generalized, Cotransporter
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المؤلفون: John B.J. Kwok, Ronald C. Petersen, Natalie E. Farrawell, Kelly L. Williams, Jack W. Miller, Athina Soragia Gkazi, Annie Levert, Jun Mitsui, Alberto García-Redondo, Simon Topp, José Luis Muñoz-Blanco, Jason E. Kost, Ian P. Blair, Hussein Daoud, Cinzia Gellera, Xun Hu, Jun Goto, Robert H. Brown, Guy A. Rouleau, Justin J. Yerbury, Claire S. Leblond, Bradley N. Smith, John Landers, Meraida Polak, Vinod Sundaramoorthy, Shoji Tsuji, Julie D. Atkin, Hiroyuki Ishiura, William S. Brooks, Joanne D. Stockton, Karen E. Morrison, Jonathan D. Glass, Claire Winnick, Patrick A. Dion, Nicholas J. Cole, Neill R. Graff-Radford, Aaron D. Gitler, Katharine Y. Zhang, Dennis W. Dickson, Albert Lee, Cyril Pottier, Karyn Boundy, Sadaf T. Warraich, Carol Dobson-Stone, Emily P. McCann, Caroline Vance, Garth A. Nicholson, Marka van Blitterswijk, Jacqueline de Belleroche, Jesús Esteban-Pérez, Stephanie L. Rayner, Alberto Rábano, Shu Yang, Yuji Takahashi, Jennifer A. Fifita, Mark P. Molloy, Alessandra Chesi, Melissa E. Murray, Rosa Rademakers, Bradley F. Boeve, Roger S. Chung, Alison L. Hogan, Vincenzo Silani, Nicola Ticozzi, Orla Hardiman, Christopher Shaw, Emily K. Don, Gilles J. Guillemin
المساهمون: Medical Research Council (MRC)
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Williams, K L, Topp, S, Yang, S, Smith, B, Fifita, J A, Warraich, S T, Zhang, K Y, Farrawell, N, Vance, C, Hu, X, Chesi, A, Leblond, C S, Lee, A, Rayner, S L, Sundaramoorthy, V, Dobson-Stone, C, Molloy, M P, van Blitterswijk, M, Dickson, D W, Petersen, R C, Graff-Radford, N R, Boeve, B F, Murray, M E, Pottier, C, Don, E, Winnick, C, McCann, E P, Hogan, A, Daoud, H, Levert, A, Dion, P A, Mitsui, J, Ishiura, H, Takahashi, Y, Goto, J, Kost, J, Gellera, C, Gkazi, A S, Miller, J, Stockton, J, Brooks, W S, Boundy, K, Polak, M, Muñoz-Blanco, J L, Esteban-Pérez, J, Rábano, A, Hardiman, O, Morrison, K E, Ticozzi, N, Silani, V, de Belleroche, J, Glass, J D, Kwok, J B J, Guillemin, G J, Chung, R S, Tsuji, S, Brown, R H, García-Redondo, A, Rademakers, R, Landers, J E, Gitler, A D, Rouleau, G A, Cole, N J, Yerbury, J J, Atkin, J D, Shaw, C E, Nicholson, G A & Blair, I P 2016, ' CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia ', Nature Communications, vol. 7, 11256 . https://doi.org/10.1038/ncomms11253
Nature communications
Williams, K L, Topp, S, Yang, S, Smith, B, Fifita, J A, Warraich, S T, Zhang, K Y, Farrawell, N, Vance, C, Hu, X, Chesi, A, Leblond, C S, Lee, A, Rayner, S L, Sundaramoorthy, V, Dobson-Stone, C, Molloy, M P, van Blitterswijk, M, Dickson, D W, Petersen, R C, Graff-Radford, N R, Boeve, B F, Murray, M E, Pottier, C, Don, E, Winnick, C, McCann, E P, Hogan, A, Daoud, H, Levert, A, Dion, P A, Mitsui, J, Ishiura, H, Takahashi, Y, Goto, J, Kost, J, Gellera, C, Gkazi, A S, Miller, J, Stockton, J, Brooks, W S, Boundy, K, Polak, M, Muñoz-Blanco, J L, Esteban-Pérez, J, Rábano, A, Hardiman, O, Morrison, K E, Ticozzi, N, Silani, V, De Belleroche, J, Glass, J D, Kwok, J B J, Guillemin, G J, Chung, R S, Tsuji, S, Brown, R H, García-Redondo, A, Rademakers, R, Landers, J E, Gitler, A D, Rouleau, G A, Cole, N J, Yerbury, J J, Atkin, J D, Shaw, C E, Nicholson, G A & Blair, I P 2016, ' CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia ', Nature Communications, vol. 7, 11253 . https://doi.org/10.1038/ncomms11253
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)مصطلحات موضوعية: 0301 basic medicine, Male, General Physics and Astronomy, Bioinformatics, 0302 clinical medicine, Missense mutation, Amyotrophic lateral sclerosis, Uncategorized, Genetics, Multidisciplinary, Chromosome Mapping, Middle Aged, Pedigree, Frontotemporal Dementia, Female, Engineering sciences. Technology, Frontotemporal dementia, Adult, Science, Mutation, Missense, Locus (genetics), Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Genetic linkage, Cell Line, Tumor, Cyclins, MD Multidisciplinary, mental disorders, medicine, Dementia, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Aged, Family Health, Sequence Homology, Amino Acid, Amyotrophic Lateral Sclerosis, General Chemistry, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Proteasome, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16, Genome-Wide Association Study
وصف الملف: application/pdf; text
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المؤلفون: Annie Levert, Patrick A. Dion, Cynthia Soderblom, Craig Blackstone, Guy A. Rouleau, Nicolas Dupré, Inge A. Meijer, Peng-Peng Zhu, Sandra Laurent, Michel Sylvain, Jacques Puymirat, Bernard Brais, Julia Stadler
المصدر: Annals of Neurology. 61:599-603
مصطلحات موضوعية: Genetics, Atlastin, 0303 health sciences, Hereditary spastic paraplegia, Guanosine, Biology, medicine.disease, Spastin, nervous system diseases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, GTP-binding protein regulators, Neurology, Membrane protein, chemistry, medicine, French canadian, Triphosphatase, Neurology (clinical), 030217 neurology & neurosurgery, 030304 developmental biology
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المؤلفون: Patrick A. Dion, Daniel Rochefort, Veronique V. Belzil, Pascale Hince, Catherine André-Guimont, Andrew W. Folkmann, Annie Levert, Susan R. Wente, Hannah M. Kaneb, Guy A. Rouleau, Anne Noreau, Hussein Daoud, William Camu, Sabrina Vidal, Li-En Jao, Anna Szuto, Jean-Pierre Bouchard, Claire S. Leblond, Nicolas Dupré, Simon Girard
المساهمون: Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (5), pp.1363-1373. ⟨10.1093/hmg/ddu545⟩
Human molecular genetics, vol 24, iss 5مصطلحات موضوعية: Nucleocytoplasmic Transport Proteins, Messenger, Haploinsufficiency, Neurodegenerative, medicine.disease_cause, Medical and Health Sciences, 0302 clinical medicine, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Amyotrophic lateral sclerosis, Zebrafish, Genetics (clinical), Genetics & Heredity, Genetics, Arthrogryposis, Motor Neurons, Microscopy, 0303 health sciences, Mutation, Microscopy, Confocal, biology, General Medicine, Articles, Biological Sciences, 3. Good health, Pedigree, DNA-Binding Proteins, Codon, Nonsense, Confocal, Neurological, Lethal arthrogryposis with anterior horn cell disease, RNA Splicing, Nonsense mutation, Mutation, Missense, 03 medical and health sciences, Rare Diseases, medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, RNA, Messenger, Codon, Molecular Biology, Protein Processing, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Animal, Lethal congenital contracture syndrome, Amyotrophic Lateral Sclerosis, Post-Translational, Neurosciences, biology.organism_classification, medicine.disease, Brain Disorders, Disease Models, Animal, Orphan Drug, Nonsense, Hela Cells, Disease Models, Nuclear Pore, RNA, Missense, ALS, Protein Processing, Post-Translational, 030217 neurology & neurosurgery, HeLa Cells
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97485f7f5c5a6742e972d5ee2a182d2c
https://hal.umontpellier.fr/hal-02191093 -
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المؤلفون: Francesca Di Biasio, Claudio Colonnese, Ennio Iezzi, Matteo Bologna, Alfonso Fasano, Myriam Srour, Annie Levert, Guy A. Rouleau, Luigi Pavone, Giovanni Grillea, Alfredo Berardelli, Fabio Sebastiano
مصطلحات موضوعية: Neurological signs, medicine.medical_specialty, electromyography, corticospinal excitability, electromyography, functional magnetic resonance imaging, interhemispheric inhibition, mirror movements, neurophysiology, transcranial magnetic stimulation, medicine.medical_treatment, Electromyography, Audiology, mirror movements, Mirror movements, Variable Expression, Neuroimaging, interhemispheric inhibition, transcranial magnetic stimulation, medicine, Research Articles, medicine.diagnostic_test, organic chemicals, fungi, Neurophysiology, functional magnetic resonance imaging, Transcranial magnetic stimulation, Neurology, Neurology (clinical), corticospinal excitability, neurophysiology, Functional magnetic resonance imaging, Psychology, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ffd4825d0c9346384d0c1583819ec6
https://europepmc.org/articles/PMC6353446/ -
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المؤلفون: Giovanni Stevanin, Julie Gauthier, Anne Noreau, Alexandra Durr, Anna Szuto, Annie Levert, Nicolas Dupré, Cynthia V. Bourassa, Mathieu Anheim, Alexis Brice, Sylvia Dobrzeniecka, Patrick A. Dion, Jean-Pierre Bouchard, Guy A. Rouleau, Sylvie Forlani
المصدر: JAMA neurology. 70(10)
مصطلحات موضوعية: Adult, Male, Ataxia, Cerebellar Ataxia, Population, DNA Mutational Analysis, Nerve Tissue Proteins, Biology, medicine.disease_cause, Cohort Studies, Dysmetria, medicine, Humans, education, Genetics, Family Health, Mutation, education.field_of_study, Cerebellar ataxia, Nuclear Proteins, Autosomal recessive cerebellar ataxia, medicine.disease, Cytoskeletal Proteins, Gait Ataxia, Cerebellar atrophy, Female, Neurology (clinical), medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fb5218423045747041cbcedf14679a8
https://pubmed.ncbi.nlm.nih.gov/23959263 -
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المؤلفون: Marie-France Rioux, Anna Szuto, Nicolas Dupré, Annie Levert, Pascale Thibodeau, Guy A. Rouleau, Bernard Brais, Patrick A. Dion, Anne Noreau
المصدر: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 39(1)
مصطلحات موضوعية: Family Health, Male, Pediatrics, medicine.medical_specialty, Canada, Genotype, Hereditary spastic paraplegia, business.industry, Spastic Paraplegia, Hereditary, DNA Mutational Analysis, Cytochrome P450 Family 7, General Medicine, medicine.disease, Neurology, Gene Frequency, Mutation, Steroid Hydroxylases, medicine, French canadian, Humans, Female, Neurology (clinical), Age of Onset, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9f1864341e40884d09a427cafd9a5ff
https://pubmed.ncbi.nlm.nih.gov/22384504 -
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المؤلفون: Michel Panisset, Patrick A. Dion, Nancy D. Merner, John Verner Raelson, Annie Levert, Geneviève Bernard, Sabrina Diab, Simon Girard, Helene Fournier, Nicolas Dupré, Dan Spiegelman, Anne Noreau, Cynthia V. Bourassa, Hélène Catoire, Guy A. Rouleau, Patrick Cossette, Jean-Baptiste Rivière, Anna Szuto, Veronique V. Belzil, Sylvain Chouinard, Majid Belouchi, Alexandre Dionne-Laporte, Pascale Hince
المصدر: American journal of human genetics. 91(2)
مصطلحات موضوعية: Essential Tremor, Nonsense mutation, Molecular Sequence Data, Biology, Article, Genetics, medicine, Missense mutation, Humans, Point Mutation, Genetics(clinical), Exome, Genetic Predisposition to Disease, Amyotrophic lateral sclerosis, Genetics (clinical), Exome sequencing, Essential tremor, Base Sequence, Point mutation, Quebec, Sequence Analysis, DNA, medicine.disease, Cancer research, RNA-Binding Protein FUS
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المؤلفون: Inge A, Meijer, Patrick, Dion, Sandra, Laurent, Nicolas, Dupré, Bernard, Brais, Annie, Levert, Jacques, Puymirat, Marie France, Rioux, Michel, Sylvain, Peng-Peng, Zhu, Cynthia, Soderblom, Julia, Stadler, Craig, Blackstone, Guy A, Rouleau
المصدر: Annals of neurology. 61(6)
مصطلحات موضوعية: Adult, Paraplegia, Adolescent, Electrodiagnosis, DNA Mutational Analysis, Quebec, Membrane Proteins, Middle Aged, GTP Phosphohydrolases, GTP-Binding Proteins, Child, Preschool, Two-Hybrid System Techniques, Humans, Family, Lymphocytes, RNA, Messenger, Sequence Deletion