Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Genetics Study Group"'
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associate
Externí odkaz:
https://doaj.org/article/07eaa87799dd4d0f92bc88b303182da0
Autor:
Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee
Publikováno v:
Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP w
Externí odkaz:
https://doaj.org/article/855cdef1a9b046af9ac1a7a118950c99
Autor:
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean Christophe Corvol, French Parkinson disease Genetics Study Group (PDG)
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and i
Externí odkaz:
https://doaj.org/article/70e73e8ef588464cb23a2e9bc5b7be18
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/00e4e9b861df4fde8b25166bf80aa5f6
Autor:
Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee
Publikováno v:
Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/9f2d97a4d99c4fcda05bd7c06ecc3351
Autor:
Ingo Helbig, Giulia Barcia, Manuela Pendziwiat, Shiva Ganesan, Stefanie H. Mueller, Katherine L. Helbig, Priya Vaidiswaran, Julie Xian, Peter D. Galer, Zaid Afawi, Nicola Specchio, Gerhard Kluger, Gregor Kuhlenbäumer, Silke Appenzeller, Michael Wittig, Uri Kramer, Andreas vanBaalen, Rima Nabbout, FIRES Genetics Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1429-1435 (2020)
Abstract Febrile infection‐related epilepsy syndrome (FIRES) is a devastating epilepsy characterized by new‐onset refractory status epilepticus with a prior febrile infection. We performed exome sequencing in 50 individuals with FIRES, including
Externí odkaz:
https://doaj.org/article/2e6f3dac92674d6d82bb4276627bd400
Autor:
Suzanne Lesage, Marion Houot, Graziella Mangone, Christelle Tesson, Hélène Bertrand, Sylvie Forlani, Mathieu Anheim, Christine Brefel-Courbon, Emmanuel Broussolle, Stéphane Thobois, Philippe Damier, Franck Durif, Emmanuel Roze, François Tison, David Grabli, Fabienne Ory-Magne, Bertrand Degos, François Viallet, Florence Cormier-Dequaire, Anne-Marie Ouvrard-Hernandez, Marie Vidailhet, Ebba Lohmann, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice, for the French Parkinson disease Genetics Study Group(PDG)
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
LRRK2, SNCA, and VPS35 are unequivocally associated with autosomal dominant Parkinson's disease (PD). We evaluated the prevalence of LRRK2, SNCA, and VPS35 mutations and associated clinical features in a large French multi-center cohort of PD patient
Externí odkaz:
https://doaj.org/article/ab626b59f2644450b53b69ad6bb750ad
Autor:
Corazon A. Ngelangel, Mark Anthony U. Javelosa, Eva Maria C. Cutiongco-de la Paz, null The Philippine Cancer Genetics Study Group
Publikováno v:
Acta Medica Philippina. 43
Introduction. In the Philippines, lung, breast, colon-rectum, and oral cavity cancers are among the top 10 most common cancers. This study evaluates the risk factors for these cancers among Filipinos. Methods. This age-matched case-control study incl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6762c5473fb2f7fd39426f0afdea9100
https://doi.org/10.47895/amp.v43i4.7387
https://doi.org/10.47895/amp.v43i4.7387
Autor:
Alessio, Gerussi, Damiano, Verda, Claudio, Cappadona, Laura, Cristoferi, Davide Paolo, Bernasconi, Sandro, Bottaro, Marco, Carbone, Marco, Muselli, Pietro, Invernizzi, Rosanna, Asselta, On Behalf Of The Italian Pbc Genetics Study Group
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 10; Pages: 1587
Background: The application of Machine Learning (ML) to genetic individual-level data represents a foreseeable advancement for the field, which is still in its infancy. Here, we aimed to evaluate the feasibility and accuracy of an ML-based model for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f292ac725bd577c9dd25e7243e7080
https://hdl.handle.net/10281/401144
https://hdl.handle.net/10281/401144
Autor:
Cordell, Heather J, Han, Younghun, Mells, George F, Li, Yafang, Hirschfield, Gideon M, Greene, Casey S, Xie, Gang, Juran, Brian D, Zhu, Dakai, Qian, David C, Floyd, James AB, Morley, Katherine I, Prati, Daniele, Lleo, Ana, Cusi, Daniele, Canadian-US PBC Consortium, Italian PBC Genetics Study Group, UK-PBC Consortium, Gershwin, M Eric, Anderson, Carl A, Lazaridis, Konstantinos N, Invernizzi, Pietro, Seldin, Michael F, Sandford, Richard N, Amos, Christopher I, Siminovitch, Katherine A
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50732bcdffbc26bad305c939c0b63258