Zobrazeno 1 - 10
of 561
pro vyhledávání: '"Giovanni, Coppola"'
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:
Imogen J. Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T. Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M. José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S. Block, Aaron M. Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C. Jiskoot, Lieke H. H. Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L. van der Ende, John C. van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D. Rohrer
Publikováno v:
Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number
Externí odkaz:
https://doaj.org/article/1d7c751ac55c494a90e49ef788756561
Autor:
Giovanni Coppola, Marco Merlo
Publikováno v:
Nuova Antologia Militare, Vol 5, Iss 17, Pp 139-216 (2024)
In the practice of medieval wars, fighting with stones was particularly widespread, both during siege operations and in pitched battles. The departments of slingers were therefore particularly appreciated, often farmers and shepherds accustomed to us
Externí odkaz:
https://doaj.org/article/cacd9d78e9484abba6675081e506f897
Autor:
Sahar Gelfman, Arden Moscati, Santiago Mendez Huergo, Rujin Wang, Veera Rajagopal, Neelroop Parikshak, Vijay Kumar Pounraja, Esteban Chen, Michelle Leblanc, Ralph Hazlewood, Jan Freudenberg, Blerta Cooper, Ann J. Ligocki, Charles G. Miller, Tavé Van Zyl, Jonathan Weyne, Carmelo Romano, Botir Sagdullaev, Olle Melander, Aris Baras, Regeneron Genetics Center, Eli A. Stahl, Giovanni Coppola
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Anterior Uveitis (AU) is the inflammation of the anterior part of the eye, the iris and ciliary body and is strongly associated with HLA-B*27. We report AU exome sequencing results from eight independent cohorts consisting of 3,850 cases and
Externí odkaz:
https://doaj.org/article/2a6f67c11f6f43db8996c9159e2e7bb2
Publikováno v:
Applied Sciences, Vol 14, Iss 13, p 5831 (2024)
Orifice Hollow Cathodes are electric devices necessary for the functioning of common plasma thrusters for space applications. Their reliability mainly depends on the success of a spacecraft’s mission equipped with electric propulsion. The developme
Externí odkaz:
https://doaj.org/article/0827da7c2b1c482f90bee4d619d5b02d
Autor:
Jacqueline Cappadocia, Lisa B. Aiello, Michael J. Kelley, Bryson W. Katona, Kara N. Maxwell, Anurag Verma, Ph.D., Shefali S. Verma, Ph.D., Yuki Bradford, M.S., Ashlei Brock, Stephanie DerOhannessian, Scott Dudek, M.S., Joseph Dunn, Theodore Drivas, M.D., Ph.D., Ned Haubein, Khadijah Hu-Sain, Renae Judy, Ashley Kloter, Yi-An Ko, Meghan Livingstone, Linda Morrel, Colleen Morse, M.S., Afiya Poindexter, Marjorie Risman, M.S., Teo Tran, Fred Vadivieso, JoEllen Weaver, Daniel J. Rader, M.D., Marylyn D. Ritchie, Ph.D., Michael D. Feldman, M.D., Ph.D., Christina Beechert, Caitlin Forsythe, M.S., Erin D. Fuller, Zhenhua Gu, M.S., Michael Lattari, Alexander Lopez, M.S., John D. Overton, Ph.D., Maria Sotiropoulos Padilla, M.S., Manasi Pradhan, M.S., Kia Manoochehri, B.S., Thomas D. Schleicher, M.S., Louis Widom, Sarah E. Wolf, M.S., Ricardo H. Ulloa, B.S., Amelia Averitt, Ph.D., Nilanjana Banerjee, Ph.D., Michael Cantor, M.D., Dadong Li, Ph.D., Sameer Malhotra, M.D., Deepika Sharma, MHI, Jeffrey Staples, Ph.D., Xiaodong Bai, Ph.D., Suganthi Balasubramanian, Ph.D., Suying Bao, Ph.D., Boris Boutkov, Ph.D., Siying Chen, Ph.D., Gisu Eom, B.S., Lukas Habegger, Ph.D., Alicia Hawes, B.S., Shareef Khalid, Olga Krasheninina, M.S., Rouel Lanche, B.S., Adam J. Mansfield, B.A., Evan K. Maxwell, Ph.D., George Mitra, B.A., Mona Nafde, M.S., Sean O’Keeffe, Ph.D., Max Orelus, B.B.A., Razvan Panea, Ph.D., Tommy Polanco, B.A., Ayesha Rasool, M.S., Jeffrey G. Reid, Ph.D., William Salerno, Ph.D., Jeffrey C. Staples, Ph.D., Kathie Sun, Ph.D., Goncalo Abecasis, D.Phil., Joshua Backman, Ph.D., Amy Damask, Ph.D., Lee Dobbyn, Ph.D., Manuel Allen Revez Ferreira, Ph.D., Arkopravo Ghosh, M.S., Christopher Gillies, Ph.D., Lauren Gurski, B.S., Eric Jorgenson, Ph.D., Hyun Min Kang, Ph.D., Michael Kessler, Ph.D., Jack Kosmicki, Ph.D., Alexander Li, Ph.D., Nan Lin, Ph.D., Daren Liu, M.S., Adam Locke, Ph.D., Jonathan Marchini, Ph.D., Anthony Marcketta, M.S., Joelle Mbatchou, Ph.D., Arden Moscati, Ph.D., Charles Paulding, Ph.D., Carlo Sidore, Ph.D., Eli Stahl, Ph.D., Kyoko Watanabe, Ph.D., Bin Ye, Ph.D., Blair Zhang, Ph.D., Andrey Ziyatdinov, Ph.D., Ariane Ayer, B.S., Aysegul Guvenek, Ph.D., George Hindy, Ph.D., Giovanni Coppola, M.D., Jan Freudenberg, M.D., Jonas Bovijn, M.D., Katherine Siminovitch, M.D., Kavita Praveen, Ph.D., Luca A. Lotta, M.D., Manav Kapoor, Ph.D., Mary Haas, Ph.D., Moeen Riaz, Ph.D., Niek Verweij, Ph.D., Olukayode Sosina, Ph.D., Parsa Akbari, Ph.D., Priyanka Nakka, Ph.D., Sahar Gelfman, Ph.D., Sujit Gokhale, B.E., Tanima De, Ph.D., Veera Rajagopal, Ph.D., Alan Shuldiner, M.D., Gannie Tzoneva, Ph.D., Juan Rodriguez-Flores, Ph.D., Esteban Chen, M.S., Marcus B. Jones, Ph.D., Michelle G. LeBlanc, Ph.D., Jason Mighty, Ph.D., Lyndon J. Mitnaul, Ph.D., Nirupama Nishtala, Ph.D., Nadia Rana, Ph.D., Jaimee Hernandez, Goncalo Abecasis, PhD, Aris Baras, M.D., Andrew Deubler, Aris Economides, Ph.D., Luca A. Lotta, M.D., Ph.D.
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101858- (2024)
This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2 racially diverse cohorts. We identified clinical reports of the PMS2 c.2523G>A p.(W841∗)
Externí odkaz:
https://doaj.org/article/208611a0067a41088e055b67156b197c
Autor:
Jennifer M. Achiro, Yang Tao, Fuying Gao, Chia-Ho Lin, Marika Watanabe, Sylvia Neumann, Giovanni Coppola, Douglas L. Black, Kelsey C. Martin
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Aging-related memory impairment and pathological memory disorders such as Alzheimer’s disease differ between males and females, and yet little is known about how aging-related changes in the transcriptome and chromatin environment differ between se
Externí odkaz:
https://doaj.org/article/40dfcd13efbb453ea7a5c84a591776c2
Autor:
Kavita Praveen, Gaurang C. Patel, Lauren Gurski, Ariane H. Ayer, Trikaladarshi Persaud, Matthew D. Still, Lawrence Miloscio, Tavé Van Zyl, Silvio Alessandro Di Gioia, Ben Brumpton, Kristi Krebs, Bjørn Olav Åsvold, Esteban Chen, Venkata R. M. Chavali, Wen Fury, Harini V. Gudiseva, Sarah Hyde, Eric Jorgenson, Stephanie Lefebvre, Dadong Li, Alexander Li, James Mclninch, Brijeshkumar Patel, Jeremy S. Rabinowitz, Rebecca Salowe, Claudia Schurmann, Anne-Sofie Seidelin, Eli Stahl, Dylan Sun, Tanya M. Teslovich, Anne Tybjærg-Hansen, Cristen Willer, Scott Waldron, Sabrina Walley, Hua Yang, Sarthak Zaveri, Regeneron Genetics Center, GHS-RGC DiscovEHR Collaboration, Estonian Biobank Research Team, Ying Hu, Kristian Hveem, Olle Melander, Lili Milani, Stefan Stender, Joan M. O’Brien, Marcus B. Jones, Gonçalo R. Abecasis, Michael N. Cantor, Jonathan Weyne, Katia Karalis, Aris Economides, Giusy Della Gatta, Manuel A. Ferreira, George D. Yancopoulos, Aris Baras, Carmelo Romano, Giovanni Coppola
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
Rare variant association data from human genetics combined with in vitro and in vivo functional validation highlight ANGPTL7 as a promising therapeutic target for intraocular pressure reduction, and protection from glaucoma.
Externí odkaz:
https://doaj.org/article/bf2cad284dd24cb3b77f0086f2b2543b
Autor:
Takahiko Noro, Sahil H. Shah, Yuqin Yin, Riki Kawaguchi, Satoshi Yokota, Kun-Che Chang, Ankush Madaan, Catalina Sun, Giovanni Coppola, Daniel Geschwind, Larry I. Benowitz, Jeffrey L. Goldberg
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Adult central nervous system (CNS) axons fail to regenerate after injury, and master regulators of the regenerative program remain to be identified. We analyzed the transcriptomes of retinal ganglion cells (RGCs) at 1 and 5 days after optic
Externí odkaz:
https://doaj.org/article/38eab275dbca49d18b7dd652b839091d
Autor:
Ngan Pan Bennett Au, Gajendra Kumar, Pallavi Asthana, Fuying Gao, Riki Kawaguchi, Raymond Chuen Chung Chang, Kwok Fai So, Yang Hu, Daniel H. Geschwind, Giovanni Coppola, Chi Him Eddie Ma
Publikováno v:
npj Regenerative Medicine, Vol 7, Iss 1, Pp 1-16 (2022)
Abstract Adult mammalian injured axons regenerate over short-distance in the peripheral nervous system (PNS) while the axons in the central nervous system (CNS) are unable to regrow after injury. Here, we demonstrated that Lycium barbarum polysacchar
Externí odkaz:
https://doaj.org/article/59d7549c2a1b4038917bf05b09f9ef36