Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry

Autor: Inmaculada Pitarch-Castellano, David Hervás, Maria Grazia Cattinari, Eugenia Ibáñez Albert, Mercedes López Lobato, Nancy Carolina Ñungo Garzón, Juan Rojas, Cristina Puig-Ram, Marcos Madruga-Garrido

Publikováno v: Children, Vol 10, Iss 12, p 1880 (2023)

Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, an

Externí odkaz: https://doaj.org/article/1fa68c40e96a4d09b7aa2772b026b2e6

Synaptic processes and immune-related pathways implicated in Tourette syndrome

Autor: Fotis Tsetsos, Dongmei Yu, Jae Hoon Sul, Alden Y. Huang, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten R. Muller-Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, Harald Aschauer, Mara Stamenkovic, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas V. Fernandez, Csaba Barta, Zsanett Tarnok, Peter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Danielle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara J. Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Michael Wagner, James A. Knowles, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Nancy J. Cox, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Peristera Paschou, on behalf of the Tourette Association of America International Consortium for Genetics, Sabrina Darrow, Roger Kurlan, James F. Leckman, Jan H. Smit, the Gilles de la Tourette GWAS Replication Initiative, Harald Aschauer Harald Aschauer, Anastasios Konstantinidis, Kirsten Müller-Vahl, Tomasz Wolanczyk, the Tourette International Collaborative Genetics Study, Lawrence Brown, Keun-Ah Cheon, Blanca Garcia-Delgar, Donald Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Bennett L. Leventhal, Marcos Madruga-Garrido, Pablo Mir, Astrid Morer, Alexander Münchau, Kerstin J. Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Samuel Zinner, and the Psychiatric Genomics Consortium Tourette Syndrome Working Group, Thomas Fernandez, Gary Heiman, Pieter Hoekstra, Jay Tischfield, Douglas Woods

Publikováno v: Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021)

Abstract Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis

Externí odkaz: https://doaj.org/article/1e03ee514141459ab171b2316307b113

Yale Global Tic Severity Scale (YGTSS): Psychometric Quality of the Gold Standard for Tic Assessment Based on the Large-Scale EMTICS Study

Autor: Martina Haas, Ewgeni Jakubovski, Carolin Fremer, Andrea Dietrich, Pieter J. Hoekstra, Burkard Jäger, Kirsten R. Müller-Vahl, The EMTICS Collaborative Group, Alan Apter, Valentina Baglioni, Juliane Ball, Noa Benaroya-Milshtein, Benjamin Bodmer, Emese Bognar, Bianka Burger, Judith Buse, Francesco Cardona, Marta Correa Vela, Nanette M. Debes, Maria Cristina Ferro, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Tammy J. Hedderly, Isobel Heyman, Chaim Huyser, Marcos Madruga-Garrido, Anna Marotta, Davide Martino, Pablo Mir, Astrid Morer, Norbert Müller, Alexander Münchau, Peter Nagy, Valeria Neri, Thaïra J.C. Openneer, Alessandra Pellico, Ángela Periañez Vasco, Kerstin J. Plessen, Cesare Porcelli, Marina Redondo, Renata Rizzo, Veit Roessner, Daphna Ruhrman, Jaana M.L. Schnell, Anette Schrag, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Zsanett Tarnok, Jennifer Tübing, Victoria L. Turner, Susanne Walitza, Elif Weidinger

Publikováno v: Frontiers in Psychiatry, Vol 12 (2021)

The Yale Global Tic Severity Scale (YGTSS) is a clinician-rated instrument considered as the gold standard for assessing tics in patients with Tourette's Syndrome and other tic disorders. Previous psychometric investigations of the YGTSS exhibit diff

Externí odkaz: https://doaj.org/article/1afd2adf9d3f49fd9d0c657b08d3cc6c

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Autor: Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, Dylan Trundell

Publikováno v: LANCET NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

BACKGROUND: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917024073c62a8e3c3c8eedaa6f463bb
https://doi.org/10.1016/s1474-4422(21)00367-7

Investigation of gene-environment interactions in relation to tic severity

Autor: Frank Visscher, Kerstin J. Plessen, Tammy Hedderly, Jungeun Song, Bennett L. Leventhal, Eun-Young Shin, Lawrence W. Brown, Alexander Münchau, Robert A. King, Young Key Kim, Young Shin Kim, Veit Roessner, Andrea Dietrich, Samuel Kuperman, Thomas V. Fernandez, Keun-Ah Cheon, Carol A. Mathews, Athanasios Maras, Donald L. Gilbert, Yun-Joo Koh, Laura Ibanez-Gomez, Dongmei Yu, Astrid Morer, Sodahm Kook, Marcos Madruga-Garrido, Julie Hagstrøm, Dorothy E. Grice, Jay A. Tischfield, Lisa Osiecki, Mohamed Abdulkadir, Blanca Garcia-Delgar, Samuel H. Zinner, Chaim Huyser, Barbara J. Coffey, Dong-Ho Song, Gary A. Heiman, Pieter J. Hoekstra, Hyun Ju Hong, Pablo Mir, Isobel Heyman, Jeremiah M. Scharf

Publikováno v: Journal of neural transmission (Vienna, Austria : 1996), vol 128, iss 11
Journal of Neural Transmission
Journal of Neural Transmission, 128, 1757-1765. SPRINGER WIEN
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of neural transmission (Vienna, Austria, 128(11), 1757-1765. Springer Verlag
Abdulkadir, M, Yu, D, Osiecki, L, King, R A, Fernandez, T V, Brown, L W, Cheon, K A, Coffey, B J, Garcia-Delgar, B, Gilbert, D L, Grice, D E, Hagstrøm, J, Hedderly, T, Heyman, I, Hong, H J, Huyser, C, Ibanez-Gomez, L, Kim, Y K, Kim, Y S, Koh, Y J, Kook, S, Kuperman, S, Leventhal, B, Madruga-Garrido, M, Maras, A, Mir, P, Morer, A, Münchau, A, Plessen, K J, Roessner, V, Shin, E Y, Song, D H, Song, J, Visscher, F, Zinner, S H, Mathews, C A, Scharf, J M, Tischfield, J A, Heiman, G A, Dietrich, A & Hoekstra, P J 2021, ' Investigation of gene–environment interactions in relation to tic severity ', Journal of Neural Transmission, vol. 128, no. 11, pp. 1757-1765 . https://doi.org/10.1007/s00702-021-02396-y
Journal of neural transmission, vol. 128, no. 11, pp. 1757-1765

Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adver

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4989ca9784d759cde2ac83fbc175b51a
https://research.rug.nl/en/publications/752a6a37-2bec-4452-9c76-869d5fbe516f