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

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/b8b7499dd4d9446c941b6c08b5f8bee4

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

Relation: https://elifesciences.org/articles/35664; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/95282479a6144039bffdf9fe3019b479

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

URL الوصول: https://doaj.org/article/b2678bd5981b4644b024934250897893

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

URL الوصول: https://doaj.org/article/8e0ad59b00f44e48822c11311414e619

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3222666?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bba60cb6f8df4bf1a1be9a0efa401d02

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

URL الوصول: https://doaj.org/article/3a2b8e9a76094f53a4b32e441bb751a4

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

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2023.1112405/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/c69bb290778f47b3905ab577dd0339df

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

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2022.1050596/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/61449fea63ae4dd59fb2a82311667ab2

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

Relation: https://www.mdpi.com/2218-1989/12/11/1096; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/df86a412a29d4ee49b512db906f4337b

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 Medicine

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed582d2f280d0aca61a78bfda7e338e
https://doaj.org/article/2c1accb04c5e475dbe0325f3e155c28c