نتائج البحث - "Annie Levert"

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2742f08a78bf057bb8af1cef05775251
https://hdl.handle.net/20.500.12530/26848

Find this article in full text from ProQuest

4

Characterization of a novel SPG3A deletion in a French-Canadian family

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cc30b1f64c9d6508b94ca4d47a3b0475
https://doi.org/10.1002/ana.21114

View record at Wiley

5

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

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 5

مصطلحات 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