Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Renaud TOURAINE"'
Autor:
Alice Castaldo, Celine Delestrain, Rémi Diesler, Claire Merveilleux du Vignaux, Marion Onnee, Renaud Touraine, Lara Chalabreysse, Pascale Fanen, Ralph Epaud, Vincent Cottin, Alix De Becdelièvre
Publikováno v:
ERJ Open Research, Vol 9, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/4b45611a19014afe855328aad96ecd7d
Autor:
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Abstract Background Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a subset o
Externí odkaz:
https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7a
Autor:
Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna Jansen, J. Chris Kingswood, the TOSCA investigators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnos
Externí odkaz:
https://doaj.org/article/3dc0f80054b74f879b4183fb55c67671
Autor:
Yousra Benmakhlouf, Renaud Touraine, Ines Harzallah, Zeineb Zian, Kaoutar Ben Makhlouf, Amina Barakat, Naima Ghailani Nourouti, Mohcine Bennani Mechita
Publikováno v:
BMC Research Notes, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Objective Intellectual Disability (ID) represents a neuropsychiatric disorder, which its etiopathogenesis remains insufficiently understood. Mutations in the Aristaless Related Homeobox gene (ARX) have been identified to cause syndromic and
Externí odkaz:
https://doaj.org/article/0ca085e180954c6082b8abcd2187fb98
Autor:
Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D’Amato, Guillaume Beure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, J. Chris Kingswood, Anna C. Jansen, on behalf of TOSCA Consortium and TOSCA Investigators
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-13 (2020)
Abstract Background Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested t
Externí odkaz:
https://doaj.org/article/a0b23c01846a4a969de87a33d9d5e4c5
Autor:
Rima Nabbout, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Finbar O'Callaghan, Jiong Qin, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, J. Chris Kingswood
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited. Here, we present data from TuberOus Sclerosis regist
Externí odkaz:
https://doaj.org/article/dab0f9ec57fc46a8acf1e1131716674c
Autor:
Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)
Abstract Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social di
Externí odkaz:
https://doaj.org/article/11f492c26ac74b05ad0d3a1140c45abd
Autor:
J. Chris Kingswood, Elena Belousova, Mirjana P. Benedik, Klemens Budde, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume B. d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, TOSCA Consortium and TOSCA Investigators
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
This non-interventional post-authorisation safety study (PASS) assessed the long-term safety of everolimus in patients with tuberous sclerosis complex (TSC) who participated in the TuberOus SClerosis registry to increase disease Awareness (TOSCA) cli
Externí odkaz:
https://doaj.org/article/a666c78816a54aa88cba18411810f45b
Autor:
J. Chris Kingswood, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, Matthias Sauter
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Renal angiomyolipomas are one of the most common renal manifestations in patients with tuberous sclerosis complex (TSC), with potentially life-threatening complications and a poor prognosis. Despite the considerable progress in understanding TSC-asso
Externí odkaz:
https://doaj.org/article/51825b430f94456883ed6728eb5c658c
Autor:
Anna C. Jansen, Stephanie Vanclooster, Petrus J. de Vries, Carla Fladrowski, Guillaume Beaure d'Augères, Tom Carter, Elena Belousova, Mirjana P. Benedik, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, José C. Ferreira, Martha Feucht, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, J. Chris Kingswood
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Research on tuberous sclerosis complex (TSC) to date has focused mainly on the physical manifestations of the disease. In contrast, the psychosocial impact of TSC has received far less attention. The aim of this study was therefore to examine the imp
Externí odkaz:
https://doaj.org/article/d56f635ce4d64a1f911bba77897bc9ba