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1دورية أكاديمية
المؤلفون: Mfon E Umoh, Eric B Dammer, Jingting Dai, Duc M Duong, James J Lah, Allan I Levey, Marla Gearing, Jonathan D Glass, Nicholas T Seyfried
المصدر: EMBO Molecular Medicine, Vol 10, Iss 1, Pp 48-62 (2018)
مصطلحات موضوعية: C9orf72 expansion mutation, mass spectrometry, neurodegeneration, protein co‐expression, TDP‐43, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jonathan D Glass
المصدر: eLife, Vol 7 (2018)
مصطلحات موضوعية: amyotrophic lateral sclerosis, neuromuscular disease, neurodegeneration, motor neuron, agonist antibody, MuSK, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Juan C. Vizcarra, Thomas M. Pearce, Brittany N. Dugger, Michael J. Keiser, Marla Gearing, John F. Crary, Evan J. Kiely, Meaghan Morris, Bartholomew White, Jonathan D. Glass, Kurt Farrell, David A. Gutman
المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-20 (2023)
مصطلحات موضوعية: Neuropathology, Machine learning, Model-assisted-labeling, Alzheimer’s disease, Neurofibrillary tangles, Braak NFT staging, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2051-5960
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4دورية أكاديمية
المؤلفون: Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5دورية أكاديمية
المؤلفون: Thomas S Wingo, David J Cutler, Nicole Yarab, Crystal M Kelly, Jonathan D Glass
المصدر: PLoS ONE, Vol 6, Iss 11, p e27985 (2011)
وصف الملف: electronic resource
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6دورية أكاديميةThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
المؤلفون: Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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7دورية أكاديمية
المؤلفون: Brett N. Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Philippe Corcia, Philippe Couratier, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Vivian Drory, Vincenzo Silani, Nicola Ticozzi, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Susana Pinto, Jesus S. Mora Pardina, Mónica Povedano Panades, Peter M. Andersen, Markus Weber, Nazli A. Başak, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Patrick Vourc’h, Richard J. B. Dobson, Gerome Breen, Ammar Al-Chalabi, Ashley R. Jones, Alfredo Iacoangeli
المصدر: Frontiers in Cellular Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: ALS (Amyotrophic lateral sclerosis), neurodegeneration, differential expression analysis (DEA), survival analysis, caveolin, Cav, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Ahmad Al Khleifat, Alfredo Iacoangeli, Ashley R. Jones, Joke J. F. A. van Vugt, Matthieu Moisse, Aleksey Shatunov, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Johnathan Cooper-Knock, Simon Topp, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Ross Byrne, Victoria López, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica Povedano Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
المصدر: Frontiers in Cellular Neuroscience, Vol 16 (2022)
مصطلحات موضوعية: amyotrophic lateral sclerosis (ALS), telomere–genetics, whole genome sequence (WGS), genomics, bigdata, MND–motor neuron disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Alexandria L. Sohn, Lingyan Ping, Jonathan D. Glass, Nicholas T. Seyfried, Emily C. Hector, David C. Muddiman
المصدر: Metabolites, Vol 12, Iss 11, p 1096 (2022)
مصطلحات موضوعية: IR-MALDESI MSI, mass spectrometry imaging, Amyotrophic lateral sclerosis (ALS), neurodegenerative disease, multiomic, Microbiology, QR1-502
وصف الملف: electronic resource
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10
المؤلفون: Ahmad Al Khleifat, Alfredo Iacoangeli, Joke J. F. A. van Vugt, Harry Bowles, Matthieu Moisse, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Aleksey Shatunov, Johnathan Cooper-Knock, Simon Topp, Ross Byrne, Cinzia Gellera, Victoria López, Ashley R. Jones, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi
المساهمون: Wellcome Trust, Unión Europea. Comisión Europea. 7 Programa Marco, Unión Europea. Comisión Europea. H2020, Unión Europea. Fondo Social Europeo (ESF/FSE), Research Foundation - Flanders, KU Leuven (Bélgica), Science Foundation Ireland, Amyotrophic Lateral Sclerosis Association (Estados Unidos), NIH - National Institute of Neurological Disorders and Stroke (NINDS) (Estados Unidos), Repositório da Universidade de Lisboa, Vural, Atay (ORCID 0000-0003-3222-874X & YÖK ID 182369), Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Ahmad Al, Khleifat, Alfredo, Iacoangeli, Joke J F A van, Vugt, Harry, Bowles, Matthieu, Moisse, Ramona A J, Zwamborn, Rick A A van, der Spek, Aleksey, Shatunov, Johnathan, Cooper-Knock, Simon, Topp, Ross, Byrne, Cinzia, Gellera, Victoria, Lopez, Ashley R, Jones, Sarah, Opie-Martin, Yolanda, Campos, Wouter van, Rheenen, Brendan, Kenna, Kristel R Van, Eijk, Kevin, Kenna, Markus, Weber, Bradley, Smith, Isabella, Fogh, Vincenzo, Silani, Karen E., Morrison, Richard, Dobson, Michael A van, Es, Russell L., McLaughlin, Patrick, Vourc’h, Adriano, Chio, Philippe, Corcia, Mamede, de Carvalho, Marc, Gotkine, Monica, P Panades, Jesus ,S Mora, Pamela, J Shaw, John, E Landers, Jonathan, D Glass, Christopher, E Shaw, Orla, Hardiman, Wim, Robberecht, Philip Van, Damme, Leonard H van, den Berg, Jan, H Veldink, Ammar, Al-Chalabi, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine
المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-8 (2022)
npj Genomic Medicine
Al Khleifat, A, Iacoangeli, A, van Vugt, J J F A, Bowles, H, Moisse, M, Zwamborn, R A J, van der Spek, R A A, Shatunov, A, Cooper-Knock, J, Topp, S, Byrne, R, Gellera, C, López, V, Jones, A R, Opie-Martin, S, Vural, A, Campos, Y, van Rheenen, W, Kenna, B, Van Eijk, K R, Kenna, K, Weber, M, Smith, B, Fogh, I, Silani, V, Morrison, K E, Dobson, R, van Es, M A, McLaughlin, R L, Vourc'h, P, Chio, A, Corcia, P, de Carvalho, M, Gotkine, M, Panades, M P, Mora, J S, Shaw, P J, Landers, J E, Glass, J D, Shaw, C E, Basak, N, Hardiman, O, Robberecht, W, Van Damme, P, van den Berg, L H, Veldink, J H & Al-Chalabi, A 2022, ' Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis ', NPJ Genomic Medicine, vol. 7, no. 1, 8 . https://doi.org/10.1038/s41525-021-00267-9
Dipòsit Digital de la UB
Universidad de Barcelona
NPJ Genomic Medicineمصطلحات موضوعية: Genetics and heredity, C9ORF72, VARIANTS, QH426-470, Article, 03 medical and health sciences, 0302 clinical medicine, Human genetics, Genetics, INCLUSION-BODY MYOPATHY, Amyotrophic lateral sclerosis (ALS), Molecular Biology, Genetics (clinical), COPY NUMBER VARIATION, 030304 developmental biology, Genetics & Heredity, 0303 health sciences, Science & Technology, Genètica humana, HERITABILITY, Comparative genomics, Amyotrophic lateral sclerosis, Disease progression, Advanced launch system (STS), ASSOCIATION, HEXANUCLEOTIDE REPEAT EXPANSION, Genome sequences, PAGET-DISEASE, Medicine, BONE, Life Sciences & Biomedicine, FAMILIAL FRONTOTEMPORAL DEMENTIA, 030217 neurology & neurosurgery, Esclerosi lateral amiotròfica
وصف الملف: application/pdf; fulltext; Electronic; pdf