Zobrazeno 1 - 10
of 235
pro vyhledávání: '"Elisabeth Tournier Lasserve"'
Autor:
Lou Grangeon, Camille Charbonnier, Aline Zarea, Stephane Rousseau, Anne Rovelet-Lecrux, David Bendetowicz, Marion Lemaitre, Cécile Malrain, Muriel Quillard-Muraine, Kevin Cassinari, David Maltete, Jeremie Pariente, Olivier Moreaud, Eloi Magnin, Benjamin Cretin, Marie-Anne Mackowiak, Adeline Rollin Sillaire, Martine Vercelletto, Elsa Dionet, Olivier Felician, Pauline Rod-Olivieri, Catherine Thomas-Antérion, Gaelle Godeneche, Mathilde Sauvée, Leslie Cartz-Piver, Isabelle Le Ber, Valérie Chauvire, Therèse Jonveaux, Anna-Chloé Balageas, Annie Laquerriere, Charles Duyckaerts, Anne Vital, Andre Maues de Paula, David Meyronet, Lucie Guyant-Marechal, Didier Hannequin, Elisabeth Tournier-Lasserve, Dominique Campion, CNR-MAJ collaborators, Gaël Nicolas, David Wallon
Publikováno v:
Alzheimer’s Research & Therapy, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers. Methods Clinical, radiological, and neuropathological features o
Externí odkaz:
https://doaj.org/article/88847a664cd34093ae31f3d54233ce99
Autor:
Nastasja Grdseloff, Gwenola Boulday, Claudia J. Rödel, Cécile Otten, Daphné Raphaelle Vannier, Cécile Cardoso, Eva Faurobert, Deepika Dogra, Elisabeth Tournier-Lasserve, Salim Abdelilah-Seyfried
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells. Mutations of CCM genes within the brain vascul
Externí odkaz:
https://doaj.org/article/9b484d9e08544ffaaf1cbd816b5c3b74
Autor:
Stéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, Guillaume Ha, Chaker Aloui, Françoise Bergametti, Minh Arnould, Hind Guenou, Jessica Hadjadj, Fanny Dubois Teklali, Florence Riant, Jean-Luc Balligand, Georges Uzan, Bruno O. Villoutreix, Elisabeth Tournier-Lasserve
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Background Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identified in Mendelian forms of MMA, but they explain only a very small proportion of cases. Our aim was to investig
Externí odkaz:
https://doaj.org/article/6cabf2f8d5794295b9752b231297c26a
Autor:
Ruiting Zhang, Elisa Ouin, Lina Grosset, Karine Ighilkrim, Jessica Lebenberg, Stéphanie Guey, Véronique François, Elisabeth Tournier-Lasserve, Eric Jouvent, Hugues Chabriat
Publikováno v:
Journal of Stroke, Vol 24, Iss 3, Pp 352-362 (2022)
Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most devastating cerebral small vessel diseases. However, despite its progression with aging, some patients rema
Externí odkaz:
https://doaj.org/article/52c2c10dce9e4207b4289aa09bdaebfd
Estudios genéticos en pacientes y familias con sospecha de enfermedades neurovasculares hereditarias
Autor:
Sara Banda, Paloma Menéndez-Valladares, Elena Muiño, Elena Arce, Ana Domínguez-Mayoral, Flora Sánchez, Juan M.ª Borreguero, Enrique Montero, Pablo Duque, Soledad Pérez-Sánchez, Irene Alonso, Dominique Hervé, Sonia Reyes, Jabouley Aude, Carla Machado, Hugues Chabriat, Juan J. Ríos, Marina Alonso-Riaño, Ana Trujillo, Manoelle Kossorotoff, Elisabeth Tournier-Lasserve, Joan Montaner
Publikováno v:
Kranion, Vol 18, Iss 3 (2023)
Introducción: Las enfermedades neurovasculares minoritarias como CADASIL, cavernomatosis múltiple familiar o arteriopatía de moyamoya requieren un abordaje diagnóstico multidisciplinario que incluya un panel genético. Métodos: Se ha realizado u
Externí odkaz:
https://doaj.org/article/064fd8998b1149879e619c70c731d13d
Autor:
Salim Abdelilah-Seyfried, M. Luisa Iruela-Arispe, Josef M. Penninger, Elisabeth Tournier-Lasserve, Miikka Vikkula, Ondine Cleaver
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 8 (2022)
Externí odkaz:
https://doaj.org/article/ce136ec515304a3cbb8f606c26ea2b69
Autor:
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
Publikováno v:
The American Journal of Human Genetics. 110:681-690
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in
Autor:
Silvia Lanfranconi, Elisa Scola, Jennifer M T A Meessen, Roberto Pallini, Giulio A Bertani, Rustam Al-Shahi Salman, Elisabetta Dejana, Roberto Latini, Giorgia Abete Fornara, Nicolò M. Agnelli, Alessio Albanese, Issam Awad, Renzo Bagnati, Giovanna Balconi, Elena Ballabio, Ettore Beghi, Roberto Bernasconi, Giulio A. Bertani, Silvia Besana, Adriana Blanda, Chiara Bossi, Nereo Bresolin, Maria G. Buratti, Roberta Calabrese, Maria R. Carriero, Marco Castori, Elisa F. Ciceri, Rossella Ciurleo, Giacomo P. Comi, Valeria Contarino, Giorgio Conte, Leonardo D'Agruma, Giorgio Q. D'Alessandris, Ugo de Grazia, Rina Di Bonaventura, Piergiorgio d'Orio, Giuseppe Farago', Andreana Foresta, Carmela Fusco, Chiara Gaudino, Maria G. Lampugnani, Alessia Lanno, Francesca Lazzaroni, Cornelia Lee, Marco Locatelli, Aldo P. Maggioni, Peetra Magnusson, Matteo Malinverno, Maurizio Mangiavacchi, Antonella Mangraviti, Silvia Marino, Selene Mazzola, Enrico B. Nicolis, Deborah Novelli, Maria L. Ojeda Fernandez, Antonio Petracca, Fabrizio Pignotti, Simona Pogliani, Marco Poloni, Alessandro Prelle, Pamela Raggi, Franca Raucci, Caroline Regna-Gladin, Dario Ronchi, Emma Scelzo, Salim Seyfried, Anna Simeone, Carmelo L. Sturiale, Laura Tassi, Mauro Tettamanti, Valter Torri, Elisabeth Tournier-Lasserve, Rita Treglia, Fabio M. Triulzi, Celeste Ungaro, Elison Ursi, Gloria Valcamonica, Antonella Vasami', Barbara Zarino
Publikováno v:
2022, ' Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM) : a randomised, open-label, blinded-endpoint, phase 2 pilot trial ', Lancet Neurology, vol. 22, no. 1, pp. 35-44 . https://doi.org/10.1016/S1474-4422(22)00409-4
BACKGROUND: Observations in people with cerebral cavernous malformations, and in preclinical models of this disorder, suggest that the β-blocker propranolol might reduce the risk of intracerebral haemorrhage. We aimed to evaluate the safety and effi
Autor:
Masafumi Ihara, Yumi Yamamoto, Yorito Hattori, Wanyang Liu, Hatasu Kobayashi, Hiroyuki Ishiyama, Takeshi Yoshimoto, Satoru Miyawaki, Tim Clausen, Oh Young Bang, Gary K Steinberg, Elisabeth Tournier-Lasserve, Akio Koizumi
Publikováno v:
The Lancet Neurology. 21:747-758
Moyamoya disease is a rare cause of stroke, radiologically characterised by progressive stenosis of the terminal portion of the internal carotid arteries and compensatory capillary collaterals. The discovery that RNF213, which encodes an unconvention
Autor:
Florence Riant, Lydie Burglen, Michaelle Corpechot, Julien Robert, Alexandra Durr, Guilhem Solé, Florence Petit, Cécile Freihuber, Olivier De Marco, Catherine Sarret, Giovanni Castelnovo, Françoise Devillard, Alexandra Afenjar, Bénédicte Héron, Elisabeth Tournier Lasserve
Publikováno v:
Clinical Genetics.