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收藏Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations儿童脑和脊髓海绵状血管畸形临床与分子景观
Benichi, Sandro; Balducci, Estelle; Benzakoun, Joseph; Ghannam, Boulos; Attieh, Christian; Metais, Alice; Bourgeois, Marie; Guida, Lelio; Kaltenbach, Sophie; Tauziede-Espariat, Arnault; Riant, Florence; Villarese, Patrick; Lefevre, Coline; Roux, Charles-Joris; Puget, Stephanie; Naggara, Olivier; Oppenheim, Catherine; Nabbout, Rima; Boddaert, Nathalie; Beccaria, Kevin; Tournier-Lasserve, Elisabeth; Kossorotoff, Manoelle; Varlet, Pascale; Asnafi, Vahid; Canaud, Guillaume; Blauwblomme, Thomas 分享 收藏 分享 收藏 Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in miceRomay, Milagros C.; Knutsen, Russell H.; Ma, Feiyang; Mompeon, Ana; Hernandez, Gloria E.; Salvador, Jocelynda; Mirkov, Snezana; Batra, Ayush; Sullivan, David P.; Procissi, Daniele; Buchanan, Samuel; Kronquist, Elise; Ferrante, Elisa A.; Muller, William A.; Walshon, Jordain; Steffens, Alicia; McCortney, Kathleen; Horbinski, Craig; Tournier-Lasserve, Elisabeth; Sonabend, Adam M.; Sorond, Farzaneh A.; Wang, Michael M.; Boehm, Manfred; Kozel, Beth A.; Iruela-Arispe, M. Luisa 分享 收藏 Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemiaCousyn, Louis; Demeret, Sophie; Philippi, Anne; Bergametti, Francoise; Villa, Chiara; Morbini, Patrizia; Riant, Florence; Soulier, Jean; Tournier-Lasserve, Elisabeth; Denier, Christian 分享 收藏 Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 VariationsMorel, Helene; Bailly, Laurent; Urbanczyk, Cedric; Herve, Dominique; Berroir, Stephane; Le Bouc, Raphael; Levy, Richard; Meyer, Mylene; Aloui, Chaker; Tournier-Lasserve, Elisabeth; Mathey, Guillaume 分享 收藏 Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya diseasePinard, Amelie; Ye, Wenlei; Fraser, Stuart M.; Rosenfeld, Jill A.; Pichurin, Pavel; Hickey, Scott E.; Guo, Dongchuan; Cecchi, Alana C.; Boerio, Maura L.; Guey, Stephanie; Aloui, Chaker; Lee, Kwanghyuk; Kraemer, Markus; Alyemni, Saleh Omar; Bamshad, Michael J.; Nickerson, Deborah A.; Tournier-Lasserve, Elisabeth; Haider, Shozeb; Jin, Sheng Chih; Smith, Edward R.; Kahle, Kristopher T.; Jan, Lily Yeh; He, Mu; Milewicz, Dianna M. 分享 收藏 Phenotype and imaging features associated with APP duplicationsGrangeon, Lou; Charbonnier, Camille; Zarea, Aline; Rousseau, Stephane; Rovelet-Lecrux, Anne; Bendetowicz, David; Lemaitre, Marion; Malrain, Cecile; Quillard-Muraine, Muriel; Cassinari, Kevin; Maltete, David; Pariente, Jeremie; Moreaud, Olivier; Magnin, Eloi; Cretin, Benjamin; Mackowiak, Marie-Anne; Sillaire, Adeline Rollin; Vercelletto, Martine; Dionet, Elsa; Felician, Olivier; Rod-Olivieri, Pauline; Thomas-Anterion, Catherine; Godeneche, Gaelle; Sauvee, Mathilde; Cartz-Piver, Leslie; Le Ber, Isabelle; Chauvire, Valerie; Jonveaux, Therese; Balageas, Anna-Chloe; Laquerriere, Annie; Duyckaerts, Charles; Vital, Anne; de Paula, Andre Maues; Meyronet, David; Guyant-Marechal, Lucie; Hannequin, Didier; Tournier-Lasserve, Elisabeth; Campion, Dominique; Nicolas, Gael; Wallon, David 分享 收藏 Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertensionCapri, Yline; Kwon, Theresa; Boyer, Olivia; Bourmance, Lucas; Testa, Noe; Baudouin, Veronique; Bonnefoy, Ronan; Couderc, Anne; Meziane, Chakib; Tournier-Lasserve, Elisabeth; Heidet, Laurence; Melki, Judith 分享 收藏 Impaired retinoic acid signaling in cerebral cavernous malformationsGrdseloff, Nastasja; Boulday, Gwenola; Roedel, Claudia J.; Otten, Cecile; Vannier, Daphne Raphaelle; Cardoso, Cecile; Faurobert, Eva; Dogra, Deepika; Tournier-Lasserve, Elisabeth; Abdelilah-Seyfried, Salim 分享 收藏 Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageLecca, Mauro; Pehlivan, Davut; Suner, Damia Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contro, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, Maria Angeles; Bauza, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anais; Unger, Sheila; Gungor, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmueller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R.; Errichiello, Edoardo 分享 收藏 Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathyGuey, Stephanie; Herve, Dominique; Kossorotoff, Manoelle; Ha, Guillaume; Aloui, Chaker; Bergametti, Francoise; Arnould, Minh; Guenou, Hind; Hadjadj, Jessica; Dubois Teklali, Fanny; Riant, Florence; Balligand, Jean-Luc; Uzan, Georges; Villoutreix, Bruno O.; Tournier-Lasserve, Elisabeth 分享 收藏 European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)欧洲卒中组织 (ESO) 烟雾病血管病指南: 由血管欧洲参考网络 (VASCERN) 认可Bersano, Anna; Khan, Nadia; Fuentes, Blanca; Acerbi, Francesco; Canavero, Isabella; Tournier-Lasserve, Elisabeth; Vajcoczy, Peter; Zedde, Maria Luisa; Hussain, Salman; Lemeret, Sabrina; Kraemer, Markus; Herve, Dominique 分享 收藏 分享 收藏 Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotypeCoste, T.; Aloui, C.; Petit, F.; Moutton, S.; Devisme, L.; Wells, C. F.; Leboucq, N.; Verpillat, P.; Yvert, M.; Rivier, F.; Tournier-Lasserve, E. 分享 收藏 Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factorsDupe, Charlotte; Guey, Stephanie; Biard, Lucie; Dieng, Sokhna; Lebenberg, Jessica; Grosset, Lina; Alili, Nassira; Herve, Dominique; Tournier-Lasserve, Elisabeth; Jouvent, Eric; Chevret, Sylvie; Chabriat, Hugues 分享 收藏 Elderly CADASIL Patients with Intact Neurological StatusZhang, Ruiting; Ouin, Elisa; Grosset, Lina; Ighilkrim, Karine; Lebenberg, Jessica; Guey, Stephanie; Francois, Veronique; Tournier-Lasserve, Elisabeth; Jouvent, Eric; Chabriat, Hugues 分享 收藏 Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate脑小血管疾病极端情况的基因定位研究表明TRIM47是一个强有力的候选者Mishra, Aniket; Duplaa, Cecile; Vojinovic, Dina; Suzuki, Hideaki; Sargurupremraj, Muralidharan; Zilhao, 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.; Bulow, Robin; Weiss, Stefan; Yu, Miao; Bastin, Mark E.; Lopez, Oscar L.; Vernooij, Meike W.; Beiser, Alexa S.; Voelker, Uwe; Kacprowski, Tim; Soumare, Aicha; Smith, Jennifer A.; Knopman, David S.; Morris, Zoe; Zhu, Yicheng; Rotter, Jerome, I; Dufouil, Carole; Hernandez, Maria Valdes; Maniega, Susana Munoz; 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., Jr.; Couffinhal, Thierry; Debette, Stephanie 分享 收藏 分享 收藏 Hemiplegic Migraine Associated With PRRT2 Variations A Clinical and Genetic StudyRiant, Florence; Roos, Caroline; Roubertie, Agathe; Barbance, Cecile; Hadjadj, Jessica; Auvin, Stephane; Baille, Guillaume; Beltramone, Marion; Boulanger, Cecile; Cahn, Alice; Cata, Florina; Cheuret, Emmanuel; Cuvellier, Jean-Christophe; Defo, Antoine; Demarquay, Genevieve; Donnet, Anne; Gaillard, Nicolas; Massardier, Evelyne; Guy, Nathalie; Lamoureux, Sylvie; Le Moigno, Laurence; Lucas, Christian; Ratiu, Diana; Redon, Sylvain; Rey, Caroline; Thauvin, Christel; Viallet, Francois; Tournier-Lasserve, Elisabeth; Ducros, Anne 分享 收藏 
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