المؤلفون: Ormandzhiev S., Todorov T., Angelov T., Chamova T., Mitev V., Todorova A., Tournev I.

المصدر: Acta Medica Bulgarica, Vol 49, Iss 1, Pp 12-16 (2022)

مصطلحات موضوعية: amyotrophic lateral sclerosis, c9orf72 gene, hexanucleotide repeat expansion, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2719-5384

URL الوصول: https://doaj.org/article/0d3269d8bf61453084c2bb77b60c7e20

المؤلفون: Theresa König, Raphael Wurm, Tandis Parvizi, Sara Silvaieh, Christoph Hotzy, Hakan Cetin, Sigrid Klotz, Ellen Gelpi, Christian Bancher, Thomas Benke, Peter Dal-Bianco, Michaela Defrancesco, Peter Fischer, Josef Marksteiner, Hedwig Sutterlüty, Gerhard Ransmayr, Reinhold Schmidt, Alexander Zimprich, Elisabeth Stögmann

المصدر: Neurobiology of Disease, Vol 175, Iss , Pp 105927- (2022)

مصطلحات موضوعية: C9orf72 hexanucleotide repeat expansion, Intermediate repeats, Neurodegenerative diseases, Alzheimer dementia (AD), Frontotemporal dementia (FTD), Early onset dementia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996122003199; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/b33e5952807e41e09a340163a888807d

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Yukari Hatanaka, Tomohiro Umeda, Keiko Shigemori, Toshihide Takeuchi, Yoshitaka Nagai, Takami Tomiyama

المصدر: Biomedicines, Vol 10, Iss 5, p 1080 (2022)

مصطلحات موضوعية: C9orf72, frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), hexanucleotide repeat expansion (HRE), RNA foci, double-strand RNA-dependent protein kinase (PKR), Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/5/1080; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/9d6ac0bc4b2b458a85fd9d819abfed78

المؤلفون: Hannah Rostalski, Tomi Hietanen, Stina Leskelä, Andrea Behánová, Ali Abdollahzadeh, Rebekka Wittrahm, Petra Mäkinen, Nadine Huber, Dorit Hoffmann, Eino Solje, Anne M. Remes, Teemu Natunen, Mari Takalo, Jussi Tohka, Mikko Hiltunen, Annakaisa Haapasalo

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: amyotrophic lateral sclerosis, BV-2 cells, C9orf72 DPRs, C9orf72 hexanucleotide repeat expansion, frontotemporal lobar degeneration, microglia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.550140/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/7ee95a02d4244ed2974cb00b06245408

المؤلفون: Foteini Christidi, Rosa De Micco, Kaylena A. Ehgoetz Martens, Cristina Moglia, Francesca Trojsi

المصدر: Frontiers in Neuroscience, Vol 13 (2019)

مصطلحات موضوعية: neurodegenerative diseases, movement disorders, motor neuron disease, non-motor symptoms, C9orf72 hexanucleotide repeat expansion, neuropsychiatric disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2019.01296/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/18d7f9980737452d82f8a33e8da0423c

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Samra, Kiran, Macdougall, Amy, Peakman, Georgia, Bouzigues, Arabella, Bocchetta, Martina, Cash, David M., Greaves, Caroline V., Convery, Rhian S., van Swieten, John C., Jiskoot, Lize C., Seelaar, Harro, Moreno, Fermin, Sánchez-Valle, Raquel, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, de Mendonca, Alexandre, Butler, Christopher R., Gerhard, Alexander, Ducharme, Simon, Le Ber, Isabelle, Tiraboschi, Pietro, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Rohrer, Jonathan D., Russell, Lucy L., Rademakers, Rosa, Bruffaerts, Rose, Genetic FTD Initiative (GENFI)

المساهمون: Neurology, Genetic FTD Initiative (GENFI), Samra, Kiran [0000-0002-3105-7099], Peakman, Georgia [0000-0002-3319-138X], Bocchetta, Martina [0000-0003-1814-5024], Convery, Rhian S [0000-0002-9477-1812], van Swieten, John C [0000-0001-6278-6844], Jiskoot, Lize C [0000-0002-1120-1858], Seelaar, Harro [0000-0003-1989-7527], Rowe, James B [0000-0001-7216-8679], Borroni, Barbara [0000-0001-9340-9814], Finger, Elizabeth [0000-0003-4461-7427], Synofzik, Matthis [0000-0002-2280-7273], Galimberti, Daniela [0000-0002-9284-5953], Gerhard, Alexander [0000-0002-8071-6062], Ducharme, Simon [0000-0002-7309-1113], Le Ber, Isabelle [0000-0002-2508-5181], Tiraboschi, Pietro [0000-0002-2171-1720], Sorbi, Sandro [0000-0002-0380-6670], Rohrer, Jonathan D [0000-0002-6155-8417], Apollo - University of Cambridge Repository, Miltenberger, Gabriel, Couto, Frederico Simões do, Gabilondo, Alazne, Gorostidi, Ana, Villanua, Jorge, Cañada, Marta, Tainta, Mikel, Zulaica, Miren, Barandiaran, Myriam, Alves, Patricia, Bender, Benjamin, Wilke, Carlo, Graf, Lisa, Vogels, Annick, Vandenbulcke, Mathieu, Damme, Philip Van, Bruffaerts, Rose, Poesen, Koen, Rosa-Neto, Pedro, Gauthier, Serge, Camuzat, Agnès, Brice, Alexis, Bertrand, Anne, Funkiewiez, Aurélie, Rinaldi, Daisy, Saracino, Dario, Colliot, Olivier, Sayah, Sabrina, Prix, Catharina, Wlasich, Elisabeth, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl-Straub, Sarah, Rollin, Adeline, Kuchcinski, Gregory, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João, Almeida, Maria Rosario, Tábuas-Pereira, Miguel, Afonso, Sónia, Nelson, Annabel, Thomas, David L, Todd, Emily, Benotmane, Hanya, Nicholas, Jennifer, Shafei, Rachelle, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Premi, Enrico, Gasparotti, Roberto, Archetti, Silvana, Gazzina, Stefano, Cantoni, Valentina, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Giaccone, Giorgio, Fede, Giuseppe Di, Caroppo, Paola, Prioni, Sara, Redaelli, Veronica, Tang-Wai, David, Rogaeva, Ekaterina, Castelo-Branco, Miguel, Freedman, Morris, Keren, Ron, Black, Sandra, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M, Giannini, Lucia, Minkelen, Rick van, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Lombardi, Gemma, Bessi, Valentina, Veldsman, Michele, Andersson, Christin, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Lladó, Albert, Antonell, Anna, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Borrego-Ecija, Sergi, Verdelho, Ana, Maruta, Carolina, Ferreira, Catarina B, Repositório da Universidade de Lisboa

المصدر: Journal of neurology, neurosurgery, and psychiatry, 94(5), 357-368. BMJ Publishing Group
Journal of neurology, neurosurgery and psychiatry
Journal of neurology, neurosurgery, and psychiatry 94(5), 357-368 (2023). doi:10.1136/jnnp-2022-330152

مصطلحات موضوعية: genetics [Hallucinations], GENETICS, Hallucinations, Clinical Neurology, Medizin, C9ORF72, PROGRESSION, Anxiety, DIAGNOSIS, PHENOTYPE, AMYOTROPHIC-LATERAL-SCLEROSIS, diagnosis [Frontotemporal Dementia], SDG 3 - Good Health and Well-being, CRITERIA, Humans, ddc:610, MUTATION, genetics [Frontotemporal Dementia], Psychiatry, NEUROPSYCHIATRY, Science & Technology, PSYCHIATRIC-SYMPTOMS, FRONTOTEMPORAL DEMENTIA, Mental Status and Dementia Tests, HEXANUCLEOTIDE REPEAT EXPANSION, PREVALENCE, Psychiatry and Mental health, Psychotic Disorders, Frontotemporal Dementia, Surgery, Neurosciences & Neurology, Human medicine, Neurology (clinical), Life Sciences & Biomedicine

وصف الملف: application/pdf; text/xml; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80bb8ea18d2ed887b9c1045ccd11b0dd
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85152599102

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