Title:Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Author(s):Camila Armirola-Ricaurte, N. Zonnekein, Georgios Koutsis, Silvia Amor‐Barris, Ana L. Pelayo‐Negro, Derek Atkinson, Stéphanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio García y García, Mert Karakaya, Germán Morís, Ayşe Polat, Uluç Yiş, Carmen Espinós, Liedewei Van de Vondel, Els De Vriendt, Georgia Karadima, Brunhilde Wirth, Michael G. Hanna, Henry Houlden, José Berciano, Albena Jordanova
Journal Name:Genetics in Medicine
Publisher:Elsevier BV
Vol:26
Issue #:6
Start Page:101117
End Page:101117
Publication Date:
Open Access(OA) Status:OPEN
License:cc-by, cc-by
DOI - Digital Object Identifier:10.1016/j.gim.2024.101117
Title:Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Author(s):Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpınar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Montazer Zohour, Elmostafa El Fahime, Christina Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Rayana Elias Maia, Salehi Mansoor, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaëtan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup, Isabella Herman, Tadahiro Mitani, Jennifer E. Posey, Chee Geap Tay, Iram Javed, Lucinda Carr, Farah Kanani, Fiona Beecroft, Hane Lee, Elsayed Abdelkreem, Milan Macek, Lúciana Mota Bispo, Marwa Abd Elmaksoud, Feyzollah Hashemi‐Gorji, Davut Pehli̇van, David J. Amor, Rami Abou Jamra, Wendy K. Chung, Eshan Karimiani Ghayoor, Philippe M. Campeau, Fowzan S. Alkuraya, Alistair T. Pagnamenta, Joseph G. Gleeson, James R. Lupski, Pasquale Striano, Andrés Moreno-De-Luca, Denis L. J. Lafontaine, Henry Houlden, Reza Maroofian
Journal Name:Genetics in Medicine
Publisher:Elsevier BV
Vol:27
Issue #:4
Start Page:101251
End Page:101251
Publication Date:
Open Access(OA) Status:OPEN
License:cc-by, cc-by
DOI - Digital Object Identifier:10.1016/j.gim.2024.101251
Title:A Smartphone Application as an Exploratory Endpoint in a Phase 3 Parkinson’s Disease Clinical Trial: A Pilot Study
Author(s):Alex Page, Norman C.W. Yung, Peggy Auinger, Charles S. Venuto, Alistair M. Glidden, Eric A. Macklin, Larsson Omberg, Michael A. Schwarzschild, E. Ray Dorsey
Title:New insights into the genetic etiology of Alzheimer’s disease and related dementias
Author(s):Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam, Sonia Moreno–Grau, Najaf Amin, Adam C. Naj, Rafael Campos-Martín, Benjamin Grenier‐Boley, Víctor Andrade, Peter Holmans, Anne Boland, Vincent Damotte, Sven J. van der Lee, Marcos R. Costa, Teemu Kuulasmaa, Qiong Yang, Itziar de Rojas, Joshua C. Bis, Amber Yaqub, Ivana Nedeljković, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Dag Aarsland, Pablo García‐González, Carla Abdelnour, Emilio Alarcón‐Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Álvarez, Victoria Álvarez, Nicola J. Armstrong, Anthoula Tsolaki, Carmen Antúnez, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Sandra Barral, Alexa Beiser, Ana Belén Pastor, Jennifer E. Below, Penelope Benchek, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Merçé Boada, Eric Boerwinkle, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Jan Bressler, Catherine Bresner, Henry Brodaty, Keeley J. Brookes, Luis Ignacio Brusco, Dolores Buiza‐Rueda, Katharina Bürger, Vanessa Burholt, William S. Bush, Miguel Calero, Laura B. Cantwell, Geneviève Chêne, Jaeyoon Chung, Michael L. Cuccaro, Ãngel Carracedo, Roberta Cecchetti, Laura Cervera‐Carles, Camille Charbonnier, Hung‐Hsin Chen, Caterina Chillotti, Simona Ciccone, Jurgen A.H.R. Claassen, Christopher Clark, Elisa Conti, Anaïs Corma‐Gómez, Emanuele Maria Costantini, Carlo Custodero, Delphine Daian, Carolina Dalmasso, Antonio Daniele, Efthimios Dardiotis, Jean‐François Dartigues, Peter Paul De Deyn, Kátia de Paiva Lopes, Lot D. de Witte, Stéphanie Debette, Jürgen Deckert, Teodoro del Ser, Nicola Denning, Anita L. DeStefano, Martin Dichgans, Janine Diehl‐Schmid, Mónica Díez-Fairén, Paolo Rossi, Srdjan Djurovic, Emmanuelle Duron, Emrah Düzel, Carole Dufouil, Gudny Eiriksdottir, Sebastiaan Engelborghs, Valentina Escott‐Price, Ana Espinosa, Michael Ewers, Kelley M. Faber, Fabrizio Tagliavini, Sune Fallgaard Nielsen, David W. Fardo, Lucia Farotti, Chiara Fenoglio, Marta Fernández‐Fuertes, Raffaele Ferrari, Catarina B. Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Bernard Fongang, Myriam Fornage, Juan Fortea, Tatiana M. Foroud, Silvia Fostinelli, Nick C. Fox, Emlio Franco-Macías, María J. Bullido, Ana Frank, Lutz Froelich, Brian Fulton‐Howard, Daniela Galimberti, José María García‐Alberca, Pablo García‐González, Sebastián García‐Madrona, Guillermo García‐Ribas, Roberta Ghidoni, Ina Giegling, Giaccone Giorgio, Alison Goate, Oliver Goldhardt, Duber Gomez-Fonseca, Antonio González‐Pérez, Caroline Graff, Giulia Grande, Emma Green, Timo Grimmer, Edna Grünblatt, Michelle Grunin, Vilmundur Guðnason, Tamar Guetta‐Baranes, Annakaisa Haapasalo, Georgios M. Hadjigeorgiou, Jonathan L. Haines, Kara L. Hamilton‐Nelson, Harald Hampel, Olivier Hanon, John Hardy, Annette M. Hartmann, Lucrezia Hausner, Janet Harwood, Stefanie Heilmann‐Heimbach, Seppo Helisalmi, Michael T. Heneka, Isabel Hernández, Martin J. Herrmann, Per Hoffmann, Clive Holmes, Henne Holstege, Raquel Huerto Vilas, Marc Hulsman, Jack Humphrey, Geert Jan Biessels, Xueqiu Jian, Charlotte Johansson, Gyungah Jun, Yuriko Kastumata, John Kauwe, Patrick G. Kehoe, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary H. Kosmidis, Walter A. Kukull, Pavel P. Kuksa, Brian W. Kunkle, Amanda Kuzma, Carmen Lage, Erika J. Laukka, Lenore J. Launer, Alessandra Lauria, Chien‐Yueh Lee, Jenni Lehtisalo, Ondřej Lerch, Alberto Lleó, W.T. Longstreth, Oscar L. López, Adolfo López de Munain, Seth Love, Malin Löwemark, Lauren Luckcuck, Kathryn L. Lunetta, Yiyi Ma, Juan Macías, Catherine Macleod, Wolfgang Maier, Francesca Mangialasche, Marco Spallazzi, Marta Marquié, Iain Marshall, Eden R. Martin, Ángel Martín Montes, Carmen Martínez Rodríguez, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Miguel Medina, Alun Meggy, Shima Mehrabian, Silvia Mendoza, Manuel Menéndez‐González, Pablo Mir, Susanne Moebus, Merel O. Mol, Laura Molina‐Porcel, Laura Montrreal, Laura Morelli, Fermín Moreno, Kevin Morgan, Thomas Mosley, Markus M. Nöthen, Carolina Muchnik, Shubhabrata Mukherjee, Benedetta Nacmias, Tiia Ngandu, Gaël Nicolas, Børge G. Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Gemma Ortega, Alessandro Padovani, Paolo Caffarra, Goran Papenberg, Lucilla Parnetti, Florence Pasquier, Pau Pástor, Gina M. Peloso, Alba Pérez‐Cordón, Jordi Pérez‐Tur, Pierre Péricard, Oliver Peters, Yolande A.L. Pijnenburg, Juan A. Pineda, Gerard Piñol-Ripoll, Claudia Pisanu, Thomas Polak, Julius Popp, Daniëlle Posthuma, Josef Priller, Raquel Puerta, Olivier Quenez, Inés Quintela, Jesper Qvist Thomassen, Alberto Rábano, Innocenzo Rainero, Farid Rajabli, Inez Ramakers, Luís Miguel Real, Marcel Reinders, Christiane Reitz, Dolly Reyes‐Dumeyer, Perry Ridge, Steffi G. Riedel‐Heller, Peter Riederer, Natalia Roberto, Eloy Rodríguez‐Rodríguez, Arvid Rongve, Irene Rosas Allende, Maitée Rosende-Roca, José Luís Royo, Elisa Rubino, Dan Rujescu, María Eugenia Sáez, Paraskevi Sakka, Ingvild Saltvedt, Ángela Sanabria, María Bernal Sánchez‐Arjona, Florentino Sánchez-García, Pascual Sánchez‐Juan, Raquel Sánchez‐Valle, Sigrid B. Sando, Chloé Sarnowski, Claudia L. Satizábal, Michela Scamosci, Nikolaos Scarmeas, Elio Scarpini, Philip Scheltens, Norbert Scherbaum, Martin Scherer, Matthias Schmid, Anja Schneider, Jonathan M. Schott, Geir Selbæk, Davide Seripa, Manuel Serrano‐Ríos, Jin Sha, Alexey Shadrin, Olivia Anna Skrobot, Susan Slifer, Gijsje J. L. Snijders, Hilkka Soininen, Vincenzo Solfrizzi, Alina Solomon, Yeunjoo E. Song, Sandro Sorbi, Óscar Sotolongo‐Grau, Gianfranco Spalletta, Annika Spottke, Alessio Squassina, Eystein Stordal, Juan Pablo Tartan, Lluís Tárraga, Niccoló Tesi, Anbupalam Thalamuthu, Thomas Tegos, Giuseppe Tosto, Latchezar Traykov, Lucio Tremolizzo, Anne Tybjærg-Hansen, André G. Uitterlinden, Abbe Ullgren, Ingun Ulstein, Sergi Valero, Otto Valladares, Christine Van Broeckhoven, Jeffery M. Vance, Badri N. Vardarajan, Aad van der Lugt, Jasper Van Dongen, Jeroen van Rooij, John C. van Swieten, Rik Vandenberghe, Frans Verhey, Jean‐Sébastien Vidal, Jonathan Vogelgsang, Martin Vyhnálek, Michael Wagner, David Wallon, Li-San Wang, Ruiqi Wang, Leonie Weinhold, Jens Wiltfang, Gill Windle, Bob Woods, Mary Yannakoulia, Habil Zare, Yi Zhao, Xiaoling Zhang, Congcong Zhu, Miren Zulaica, EADB, Jan Laczó, Václav Maťoška, María Serpente, Francesca Assogna, Fabrizio Piras, Federica Piras, Valentina Ciullo, Jacob Shofany, Carlo Ferrarese, Simona Andreoni, Gessica Sala, Chiara Paola Zoia, Maria Del Zompo, Alberto Benussi, Patrizia Bastiani, Mari Takalo, Teemu Natunen, Tiina Laatikainen, Jaakko Tuomilehto, Riitta Antikainen, Timo Strandberg, Jaana Lindström, Markku Peltonen, Richard Abraham, Ammar Al‐Chalabi, Nicholas J. Bass, Carol Brayne, Kristelle S. Brown, John Collinge, David Craig, Pangiotis Deloukas, Nick C. Fox, Amy Gerrish, Michael Gill, Rhian Gwilliam, Denise Harold, Paul Hollingworth, Jarret A. 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Mather, Frank Jessen, M. Arfan Ikram, Alexandre de Mendonça, Jakub Hort, Magda Tsolaki, Margaret A. Pericak‐Vance, Philippe Amouyel, Julie Williams, Ruth Frikke‐Schmidt, Jordi Clarimón, Jean‐François Deleuze, Giacomina Rossi, Sudha Seshadri, Ole A. Andreassen, Martin Ingelsson, Mikko Hiltunen, Kristel Sleegers, Gerard D. Schellenberg, Cornelia M. van Duijn, Rebecca Sims, Wiesje M. van der Flier, Agustı́n Ruiz, Alfredo Ramı́rez, Jean‐Charles Lambert
Journal Name:Nature Genetics
Publisher:Springer Science and Business Media LLC
Vol:54
Issue #:4
Start Page:412
End Page:436
Publication Date:
Open Access(OA) Status:OPEN
License:cc-by, cc-by
DOI - Digital Object Identifier:10.1038/s41588-022-01024-z
Title:African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
Author(s):Pilar Álvarez Jerez, Peter Wild Crea, Daniel M. Ramos, Emil K. Gustavsson, Mandy Radefeldt, Andrey Damianov, Mary B. Makarious, Oluwadamilola O. Ojo, Kimberley J. Billingsley, Laksh Malik, Kensuke Daida, Sarah Bromberek, Fangle Hu, Zachary Schneider, Aditya Surapaneni, Julia T. Stadler, Mie Rizig, Huw R. Morris, Caroline B. Pantazis, Hampton L. Leonard, Laurel A. Screven, Yue Qi, Mike A. Nalls, Sara Bandrés‐Ciga, John Hardy, Henry Houlden, Celeste Eng, Esteban G. Burchard, Linda Kachuri, Chia-Ho Lin, Douglas L. Black, Global Parkinson’s Genetics Program (GP2), Mike A. Nalls, Andrew B. Singleton, Steffen Fischer, Peter Bauer, Xylena Reed, Mina Ryten, Christian Beetz, Michael E. Ward, Njideka Okubadejo, Cornelis Blauwendraat
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