Multiple system atrophy: genetic risks and alpha-synuclein mutations [version 1; referees: 2 approved]

by Heather T Whittaker, Yichen Qui, Conceição Bettencourt, Henry Houlden
Published 2017-11-01

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

by Lucia V Schottlaender, Conceição Bettencourt, Aoife P Kiely, Annapurna Chalasani, Viruna Neergheen, Janice L Holton, Iain Hargreaves, Henry Houlden
Published 2016-01-01

Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis

by Conceição Bettencourt, Ignazio S. Piras, Sandrine C. Foti, Joshua Talboom, Yasuo Miki, Tammaryn Lashley, Robert Balazs, Emmanuelle Viré, Thomas T. Warner, Matt J. Huentelman, Janice L. Holton
Published 2020-05-01

Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

by Maria Jose Casarejos, Juan Perucho, Jose Luis López-Sendón, Justo García de Yébenes, Conceição Bettencourt, Ana Gómez, Carolina Ruiz, Peter Heutink, Patrizia Rizzu, Maria Angeles Mena
Published 2014-01-01

Gene co-expression networks shed light into diseases of brain iron accumulation

by Conceição Bettencourt, Paola Forabosco, Sarah Wiethoff, Moones Heidari, Daniel M. Johnstone, Juan A. Botía, Joanna F. Collingwood, John Hardy, Elizabeth A. Milward, Mina Ryten, Henry Houlden
Published 2016-03-01

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

by Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Published 2017-11-01

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

by Ignazio S. Piras, Christiane Bleul, Isabelle Schrauwen, Joshua Talboom, Lorida Llaci, Matthew D. De Both, Marcus A. Naymik, Glenda Halliday, Conceicao Bettencourt, Janice L. Holton, Geidy E. Serrano, Lucia I. Sue, Thomas G. Beach, Nadia Stefanova, Matthew J. Huentelman
Published 2020-06-01

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Published 2019-07-01