المؤلفون: Chun Hao Wong, Steven W. Wingett, Chen Qian, J. Matthew Taliaferro, Douglas Ross-Thriepland, Simon L. Bullock

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::21355d6db357473e56d262f912da4507
https://doi.org/10.1101/2023.03.01.530592

المؤلفون: Rachel Michaelson-Cohen, Nada Alahmady, Agnes L. Nishimura, Moein Kanaan, Bradley N. Smith, Simon Topp, Rachel Eiges, Stephen Newhouse, Hagar Mor Shaked, Marc Gotkine, Gerome Breen, Caroline Vance, Chun Hao Wong, Martina de Majo, Silvina Epsztejn-Litman, Christopher Shaw, Yossef Lerner Y

المصدر: Neurobiology of Aging. 106:1-6

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Aging, Nonsense-mediated decay, Gene Expression, Cell Cycle Proteins, Genes, Recessive, Biology, medicine.disease_cause, Consanguinity, Middle East, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Loss of Function Mutation, Risk Factors, medicine, Humans, RNA, Messenger, Allele, Amyotrophic lateral sclerosis, Alleles, Genetic Association Studies, Loss function, Aged, Optineurin, Aged, 80 and over, Genetics, Mutation, General Neuroscience, Amyotrophic Lateral Sclerosis, Membrane Transport Proteins, Heterozygote advantage, Middle Aged, medicine.disease, Nonsense Mediated mRNA Decay, 030104 developmental biology, Mendelian inheritance, symbols, Female, Neurology (clinical), Geriatrics and Gerontology, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf14077770a0e54dfb122f5ff88a4e77
https://doi.org/10.1016/j.neurobiolaging.2021.05.009

المؤلفون: Claire Troakes, Federico Verde, Cinzia Tiloca, Simon Topp, Peter C. Sapp, Masatoshi Maki, Monkel Lek, Michael E. Weale, Kevin P. Kenna, Stephen E. Moss, Robert H. Brown, Karen E. Morrison, Jonathan D. Glass, Emma L. Scotter, Martina de Majo, Michael A. Simpson, Christopher Shaw, Jack W. Miller, Pamela J. Shaw, Alberto Garcia Redondo, Athina Soragia-Gkazi, Han-Jou Chen, Bradley N. Smith, Ammar Al-Chalabi, Hideki Shibata, Wejdan Kattuah, Vincenzo Silani, Jacqueline C. Mitchell, Anneloor L.M.A. ten Asbroek, Andrew P. King, Peter J. Nestor, Cinzia Gellera, Hardev Pall, Akane Sato, Jacqueline de Belleroche, Maryangel Jeon, Nigel Leigh, Martin R Turner, Janine Kirby, Frank Baas, Kevin Talbot, Jesús Esteban-Pérez, Safa Al-Sarraj, Orla Hardiman, Nicholas W Parkin, Claudia Fallini, Diana Marques Dias, Stefano Duga, Antonia Ratti, Christopher C.J. Miller, Caroline Vance, Chun Hao Wong, Nicola Ticozzi, John Landers, Matthew Nolan, J M Vianney de Jong

المساهمون: ARD - Amsterdam Reproduction and Development, Genome Analysis, Other departments, ANS - Complex Trait Genetics, Human Genetics, Medical Research Council (MRC)

المصدر: Science translational medicine 9(388), eaad9157 (2017). doi:10.1126/scitranslmed.aad9157
Smith, B N, Topp, S D, Fallini, C, Shibata, H, Chen, H-J, Troakes, C, King, A, Ticozzi, N, Kenna, K P, Soragia-Gkazi, A, Miller, J W, Sato, A, Dias, D M, Jeon, M, Vance, C, Wong, C H, de Majo, M, Kattuah, W, Mitchell, J C, Scotter, E L, Parkin, N W, Sapp, P C, Nolan, M, Nestor, P J, Simpson, M, Weale, M, Lek, M, Baas, F, Vianney de Jong, J M, Ten Asbroek, A L M A, Redondo, A G, Esteban-Pérez, J, Tiloca, C, Verde, F, Duga, S, Leigh, N, Pall, H, Morrison, K E, Al-Chalabi, A, Shaw, P J, Kirby, J, Turner, M R, Talbot, K, Hardiman, O, Glass, J D, De Belleroche, J, Maki, M, Moss, S E, Miller, C, Gellera, C, Ratti, A, Al-Sarraj, S, Brown, R H, Silani, V, Landers, J E & Shaw, C E 2017, ' Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis ', Science Translational Medicine, vol. 9, no. 388, eaad9157 . https://doi.org/10.1126/scitranslmed.aad9157
Science translational medicine, 9(388). American Association for the Advancement of Science
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, TDP-43, metabolism [Human Embryonic Stem Cells], Human Embryonic Stem Cells, Research & Experimental Medicine, FAMILIAL ALS, Protein aggregation, medicine.disease_cause, S100 Calcium Binding Protein A6, Mutant protein, Annexin, Amyotrophic lateral sclerosis, metabolism [S100 Calcium Binding Protein A6], S100A6, Mutation, 11 Medical And Health Sciences, General Medicine, Transport protein, genetics [Amyotrophic Lateral Sclerosis], Protein Transport, Medicine, Research & Experimental, CALCIUM-BINDING, ddc:500, RETICULUM EXIT SITES, Life Sciences & Biomedicine, Protein Binding, Annexins, genetics [Mutation], Biology, Article, CU/ZN SUPEROXIDE-DISMUTASE, 03 medical and health sciences, medicine, Humans, metabolism [Annexins], GENOME-WIDE ASSOCIATION, Gene, Science & Technology, Amyotrophic Lateral Sclerosis, Haplotype, COMMON FOUNDER, Cell Biology, FRONTOTEMPORAL DEMENTIA, 06 Biological Sciences, medicine.disease, GENE, Molecular biology, genetics [Annexins], 030104 developmental biology

وصف الملف: text; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b27a966da4ef46374f870b487a8486
https://doi.org/10.1126/scitranslmed.aad9157

المؤلفون: Karen E. Morrison, Athina Soragia Gkazi, Claire Troakes, Jacqueline de Belleroche, Christopher Shaw, Bradley N. Smith, Simon Topp, Pamela J. Shaw, Ammar Al-Chalabi, Jack W. Miller, Safa Al-Sarraj, Caroline Vance, Chun Hao Wong, Janine Kirby, Martina de Majo

المساهمون: Medical Research Council (MRC)

المصدر: 2908.e18
2908.e17

مصطلحات موضوعية: Male, Oncology, Aging, medicine.medical_specialty, Pathology, Geriatrics & Gerontology, Cohort Studies, Mitochondrial Proteins, Open Reading Frames, symbols.namesake, Exon, Internal medicine, Genetic variation, medicine, Genetics, Humans, Amyotrophic lateral sclerosis, Mitochondrial protein, Genetic Association Studies, Sanger sequencing, Science & Technology, Neurology & Neurosurgery, business.industry, General Neuroscience, Neurosciences, Genetic Variation, 1103 Clinical Sciences, Exons, Sequence Analysis, DNA, medicine.disease, United Kingdom, CHCHD10, Cohort, symbols, Female, Neurology (clinical), Neurosciences & Neurology, Geriatrics and Gerontology, ALS, business, 1109 Neurosciences, Life Sciences & Biomedicine, Developmental Biology, Frontotemporal dementia, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d52e2dd1ef40be06aed27d0b9ffadeba
http://hdl.handle.net/10044/1/30741

المؤلفون: Bradley N. Smith, Mike Dragunow, Jennifer Pereira, Richard L.M. Faull, Alison Charleston, Beth J. Synek, Clinton Turner, Christopher Shaw, J Ames W T Bailey, Leon Smyth, Chun-Hao Wong, Emma L. Scotter, Martina de Majo, Maurice A. Curtis, Henry J. Waldvogel, Caroline Vance

المصدر: Neurobiology of Aging. 49:214.e1-214.e5

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Aging, Pathology, medicine.medical_specialty, Autophagy-Related Proteins, Cell Cycle Proteins, Neuropathology, TARDBP, UBQLN2, 03 medical and health sciences, 0302 clinical medicine, C9orf72, medicine, Humans, Amyotrophic lateral sclerosis, Ubiquitins, Genetic Association Studies, Adaptor Proteins, Signal Transducing, Aged, Aged, 80 and over, DNA Repeat Expansion, C9orf72 Protein, biology, General Neuroscience, Amyotrophic Lateral Sclerosis, Brain, Middle Aged, medicine.disease, 030104 developmental biology, Mutation, biology.protein, Female, Neurology (clinical), Geriatrics and Gerontology, Trinucleotide repeat expansion, Motor neurone disease, 030217 neurology & neurosurgery, New Zealand, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719401fd777838e4be3d72b2542083ca
https://doi.org/10.1016/j.neurobiolaging.2016.06.019

المؤلفون: Bradley N. Smith, Swapna Thomas-Jinu, Emily P. McCann, Victoria Snowden, Garth A. Nicholson, Simon Topp, Richard Taylor, Kelly L. Williams, Eric Blanc, Christopher Shaw, Patricia M. Gordon, Holger Bielen, Ian P. Blair, Charles S. Bond, Triona Fielding, Corinne Houart, William S. Talbot, Archa H. Fox, Caroline Vance, Chun Hao Wong, Alejandro Pan-Vazquez

المصدر: Neuron
Thomas-Jinu, S, Gordon, P M, Fielding, T, Taylor, R, Smith, B N, Snowden, V, Blanc, E, Vance, C, Topp, S, Wong, C-H, Bielen, H, Williams, K, McCann, E P, Nicholson, G A, Pan-Vazquez, A, Fox, A H, Bond, C S, Talbot, W S, Blair, I P, Shaw, C E & Houart, C 2017, ' Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development ', Neuron, vol. 94, no. 2, e5, pp. 332-336 . https://doi.org/10.1016/j.neuron.2017.03.026

مصطلحات موضوعية: 0301 basic medicine, amyotrophic lateral sclerosis, RNA-binding protein, RNA Splicing, axonogenesis, Biology, Article, 03 medical and health sciences, Splicing factor, Mice, medicine, motor neurons, Animals, Humans, RNA, Messenger, PTB-Associated Splicing Factor, PSF, Motor skill, Zebrafish, Motor Neurons, neurodevelopment, SFPQ, General Neuroscience, Amyotrophic Lateral Sclerosis, neurodegeneration, Motor Cortex, Correction, RNA-Binding Proteins, central nervous system, Axons, DNA-Binding Proteins, 030104 developmental biology, medicine.anatomical_structure, nervous system, RNA processing, Neuron, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bfc8e9c7d4e50454cd6fd4360d8760c
http://europepmc.org/articles/PMC5441113

المؤلفون: Nicola Ticozzi, Caroline Vance, Chun Hao Wong, Vincenzo Silani, Andrew P. King, Emma L. Scotter, Claire Troakes, Jacqueline C. Mitchell, John Landers, Karan Lund, Simon Topp, Ammar Al-Chalabi, Christopher Shaw, Peter C. Sapp, Robert H. Brown, Safa Al-Sarraj, Bradley N. Smith, Satomi Maekawa

المصدر: Neurobiology of Aging
Smith, B N, Vance, C, Scotter, E L, Troakes, C, Wong, C H, Topp, S, Maekawa, S, King, A, Mitchell, J C, Lund, K, Al-Chalabi, A, Ticozzi, N, Silani, V, Sapp, P, Brown, R H, Landers, J E, Al-Sarraj, S & Shaw, C E 2015, ' Novel mutations support a role for Profilin 1 in the pathogenesis of ALS ', Neurobiology of Aging, vol. 36, no. 3, pp. 1602.e17-1602.e27 . https://doi.org/10.1016/j.neurobiolaging.2014.10.032

مصطلحات موضوعية: Male, Aging, Neuroscience(all), Clinical Neurology, medicine.disease_cause, Profilin 1, Protein Aggregation, Pathological, Cohort Studies, Pathogenesis, Profilins, Meta-Analysis as Topic, medicine, Genetic Report Abstract, Animals, Humans, Genetic Predisposition to Disease, Amyotrophic lateral sclerosis, Allele, Alleles, Cells, Cultured, Genetic Association Studies, Genetics, Mutation, biology, Genetic heterogeneity, General Neuroscience, Amyotrophic Lateral Sclerosis, Case-control study, Genetic Variation, medicine.disease, DNA-Binding Proteins, Ageing, Profilin, Case-Control Studies, biology.protein, TDP-43 proteinopathy, Female, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology, Frontotemporal dementia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b688c0f3c0c5fa7f8089de94016c7e8
https://doi.org/10.1016/j.neurobiolaging.2014.10.032

المؤلفون: Smith, Bradley N., Topp, Simon D., Fallini, Claudia, Hideki Shibata, Han-Jou Chen, Troakes, Claire, King, Andrew, Ticozzi, Nicola, Kenna, Kevin P., Soragia-Gkazi, Athina, Miller, Jack W., Akane Sato, Dias, Diana Marques, Jeon, Maryangel, Vance, Caroline, Chun Hao Wong, de Majo, Martina, Kattuah, Wejdan, Mitchell, Jacqueline C., Scotter, Emma L.

المصدر: Science Translational Medicine; 5/3/2017, Vol. 9 Issue 388, p1-15, 15p

مصطلحات موضوعية: GENETICS of amyotrophic lateral sclerosis, MOTOR neuron diseases, NEUROMUSCULAR diseases, EXONS (Genetics), EXOMES