Early white matter changes in CADASIL: evidence of segmental intramyelinic oedema in a pre-clinical mouse model

por Cognat, Emmanuel, Cleophax, Sabine, Domenga-Denier, Valérie, Joutel, Anne
Publicado 2014

Altered dynamics of neurovascular coupling in CADASIL

por Huneau, Clément, Houot, Marion, Joutel, Anne, Béranger, Benoit, Giroux, Christian, Benali, Habib, Chabriat, Hugues
Publicado 2018

Prostaglandin E(2) Dilates Intracerebral Arterioles When Applied to Capillaries: Implications for Small Vessel Diseases

por Rosehart, Amanda C., Longden, Thomas A., Weir, Nick, Fontaine, Jackson T., Joutel, Anne, Dabertrand, Fabrice
Publicado 2021

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits

por Kast, Jessica, Hanecker, Patrizia, Beaufort, Nathalie, Giese, Armin, Joutel, Anne, Dichgans, Martin, Opherk, Christian, Haffner, Christof
Publicado 2014

Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL

por Rajani, Rikesh M., Ratelade, Julien, Domenga-Denier, Valérie, Hase, Yoshiki, Kalimo, Hannu, Kalaria, Raj N., Joutel, Anne
Publicado 2019

CADASIL and CARASIL

por Tikka, Saara, Baumann, Marc, Siitonen, Maija, Pasanen, Petra, Pöyhönen, Minna, Myllykangas, Liisa, Viitanen, Matti, Fukutake, Toshio, Cognat, Emmanuel, Joutel, Anne, Kalimo, Hannu
Publicado 2014

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

por Tikka, Saara, Mykkänen, Kati, Ruchoux, Marie-Magdeleine, Bergholm, Robert, Junna, Maija, Pöyhönen, Minna, Yki-Järvinen, Hannele, Joutel, Anne, Viitanen, Matti, Baumann, Marc, Kalimo, Hannu
Publicado 2009

Mechanistic insights into a TIMP3-sensitive pathway constitutively engaged in the regulation of cerebral hemodynamics

por Capone, Carmen, Dabertrand, Fabrice, Baron-Menguy, Celine, Chalaris, Athena, Ghezali, Lamia, Domenga-Denier, Valérie, Schmidt, Stefanie, Huneau, Clément, Rose-John, Stefan, Nelson, Mark T, Joutel, Anne
Publicado 2016

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

por Greisenegger, Elli Katharine, Llufriu, Sara, Chamorro, Angel, Cervera, Alvaro, Jimenez-Escrig, Adriano, Rappersberger, Klemens, Marik, Wolfgang, Greisenegger, Stefan, Stögmann, Elisabeth, Kopp, Tamara, Strom, Tim M., Henes, Jörg, Joutel, Anne, Zimprich, Alexander
Publicado 2020

ER stress and Rho kinase activation underlie the vasculopathy of CADASIL

por Neves, Karla B., Harvey, Adam P., Moreton, Fiona, Montezano, Augusto C., Rios, Francisco J., Alves-Lopes, Rhéure, Nguyen Dinh Cat, Aurelie, Rocchicciolli, Paul, Delles, Christian, Joutel, Anne, Muir, Keith, Touyz, Rhian M.
Publicado 2019

CADASIL mutations sensitize the brain to ischemia via spreading depolarizations and abnormal extracellular potassium homeostasis

por Oka, Fumiaki, Lee, Jeong Hyun, Yuzawa, Izumi, Li, Mei, von Bornstaedt, Daniel, Eikermann-Haerter, Katharina, Qin, Tao, Chung, David Y., Sadeghian, Homa, Seidel, Jessica L., Imai, Takahiko, Vuralli, Doga, Platt, Rosangela M., Nelson, Mark T., Joutel, Anne, Sakadzic, Sava, Ayata, Cenk
Publicado 2022

Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects

por Mishra, Aniket, Chauhan, Ganesh, Violleau, Marie-Helene, Vojinovic, Dina, Jian, Xueqiu, Bis, Joshua C, Li, Shuo, Saba, Yasaman, Grenier-Boley, Benjamin, Yang, Qiong, Bartz, Traci M, Hofer, Edith, Soumaré, Aïcha, Peng, Fen, Duperron, Marie-Gabrielle, Foglio, Mario, Mosley, Thomas H, Schmidt, Reinhold, Psaty, Bruce M, Launer, Lenore J, Boerwinkle, Eric, Zhu, Yicheng, Mazoyer, Bernard, Lathrop, Mark, Bellenguez, Celine, Van Duijn, Cornelia M, Ikram, M Arfan, Schmidt, Helena, Longstreth, W T, Fornage, Myriam, Seshadri, Sudha, Joutel, Anne, Tzourio, Christophe, Debette, Stephanie
Publicado 2019

Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate

por Mishra, Aniket, Duplaà, Cécile, Vojinovic, Dina, Suzuki, Hideaki, Sargurupremraj, Muralidharan, Zilhão, Nuno R, Li, Shuo, Bartz, Traci M, Jian, Xueqiu, Zhao, Wei, Hofer, Edith, Wittfeld, Katharina, Harris, Sarah E, van der Auwera-Palitschka, Sandra, Luciano, Michelle, Bis, Joshua C, Adams, Hieab H H, Satizabal, Claudia L, Gottesman, Rebecca F, Gampawar, Piyush G, Bülow, Robin, Weiss, Stefan, Yu, Miao, Bastin, Mark E, Lopez, Oscar L, Vernooij, Meike W, Beiser, Alexa S, Völker, Uwe, Kacprowski, Tim, Soumare, Aicha, Smith, Jennifer A, Knopman, David S, Morris, Zoe, Zhu, Yicheng, Rotter, Jerome I, Dufouil, Carole, Valdés Hernández, Maria, Muñoz Maniega, Susana, Lathrop, Mark, Boerwinkle, Erik, Schmidt, Reinhold, Ihara, Masafumi, Mazoyer, Bernard, Yang, Qiong, Joutel, Anne, Tournier-Lasserve, Elizabeth, Launer, Lenore J, Deary, Ian J, Mosley, Thomas H, Amouyel, Philippe, DeCarli, Charles S, Psaty, Bruce M, Tzourio, Christophe, Kardia, Sharon L R, Grabe, Hans J, Teumer, Alexander, van Duijn, Cornelia M, Schmidt, Helena, Wardlaw, Joanna M, Ikram, M Arfan, Fornage, Myriam, Gudnason, Vilmundur, Seshadri, Sudha, Matthews, Paul M, Longstreth, William T, Couffinhal, Thierry, Debette, Stephanie
Publicado 2022

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

por Duperron, Marie-Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David-Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching-Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Rundek, Tatjana, Sargurupremraj, Muralidharan, Schilling, Sabrina, Setoh, Kazuya, Soukarieh, Omar, Tabara, Yasuharu, Teumer, Alexander, Thalamuthu, Anbupalam, Trollor, Julian N., Valdés Hernández, Maria C., Vernooij, Meike W., Völker, Uwe, Wittfeld, Katharina, Wong, Tien Yin, Wright, Margaret J., Zhang, Junyi, Zhao, Wanting, Zhu, Yi-Cheng, Schmidt, Helena, Sachdev, Perminder S., Wen, Wei, Yoshida, Kazumichi, Joutel, Anne, Satizabal, Claudia L., Sacco, Ralph L., Bourque, Guillaume, Lathrop, Mark, Paus, Tomas, Fernandez-Cadenas, Israel, Yang, Qiong, Mazoyer, Bernard, Boutinaud, Philippe, Okada, Yukinori, Grabe, Hans J., Mather, Karen A., Schmidt, Reinhold, Joliot, Marc, Ikram, M. Arfan, Matsuda, Fumihiko, Tzourio, Christophe, Wardlaw, Joanna M., Seshadri, Sudha, Adams, Hieab H. H., Debette, Stéphanie
Publicado 2023