Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia
Cousyn, Louis, Demeret, Sophie, Philippi, Anne, Bergametti, Françoise, Villa, Chiara, Morbini, Patrizia, Riant, Florence, Soulier, Jean, Tournier-Lasserve, Elisabeth, Denier, Christian
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2024)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2024)
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Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease
Verdura, Edgard, Hervé, Dominique, Scharrer, Eva, Amador, Maria Del Mar, Guyant-Maréchal, Lucie, Philippi, Anne, Corlobé, Astrid, Bergametti, Françoise, Gazal, Steven, Prieto-Morin, Carol, Beaufort, Nathalie, Le Bail, Benoit, Viakhireva, Irina, Dichgans, Martin, Chabriat, Hugues, Haffner, Christof, Tournier-Lasserve, Elisabeth
Published in Brain (London, England : 1878) (01.08.2015)
Published in Brain (London, England : 1878) (01.08.2015)
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Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
Guey, Stéphanie, Kraemer, Markus, Hervé, Dominique, Ludwig, Thomas, Kossorotoff, Manoëlle, Bergametti, Françoise, Schwitalla, Jan Claudius, Choi, Simone, Broseus, Lucile, Callebaut, Isabelle, Genin, Emmanuelle, Tournier-Lasserve, Elisabeth
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy
Grangeon, Lou, Guey, Stéphanie, Schwitalla, Jan Claudius, Bergametti, Françoise, Arnould, Minh, Corpechot, Michaelle, Hadjadj, Jessica, Riant, Florence, Aloui, Chaker, Drunat, Severine, Vidaud, Dominique, Tournier-Lasserve, Elisabeth, Kraemer, Markus
Published in Stroke (1970) (01.04.2019)
Published in Stroke (1970) (01.04.2019)
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Genotype-phenotype correlations in cerebral cavernous malformations patients
Denier, Christian, Labauge, Pierre, Bergametti, Françoise, Marchelli, Florence, Riant, Florence, Arnoult, Minh, Maciazek, Jacqueline, Vicaut, Eric, Brunereau, Laurent, Tournier-Lasserve, Elisabeth
Published in Annals of neurology (01.11.2006)
Published in Annals of neurology (01.11.2006)
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Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic
Coste, Thibault, Hervé, Dominique, Neau, Jean Philippe, Jouvent, Eric, Ba, Fatoumata, Bergametti, Françoise, Lamy, Matthias, Cogez, Julien, Derache, Nathalie, Schneckenburger, Romain, Grelet, Maude, Gollion, Cédric, Lanotte, Livia, Lauer, Valérie, Layet, Valérie, Urbanczyk, Cédric, Didic, Mira, Raynouard, Igor, Delaval, Laure, Dassa, Jérémie, Florea, Alexandru, Badiu, Carmen, Nguyen, Karine, Tournier-Lasserve, Elisabeth
Published in Brain (London, England : 1878) (22.10.2021)
Published in Brain (London, England : 1878) (22.10.2021)
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Genetics of cavernous angiomas
Labauge, Pierre, MD, Denier, Christian, MD, Bergametti, Francoise, PhD, Tournier-Lasserve, Elisabeth, Prof
Published in Lancet neurology (01.03.2007)
Published in Lancet neurology (01.03.2007)
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Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy
Verdura, Edgard, Hervé, Dominique, Bergametti, Françoise, Jacquet, Clémence, Morvan, Typhaine, Prieto-Morin, Carol, Mackowiak, Alexandre, Manchon, Eric, Hosseini, Hassan, Cordonnier, Charlotte, Girard-Buttaz, Isabelle, Rosenstingl, Sophie, Hagel, Christian, Kuhlenbaümer, Gregor, Leca-Radu, Elena, Goux, Didier, Fleming, Lauren, Van Agtmael, Tom, Chabriat, Hugues, Chapon, Françoise, Tournier-Lasserve, Elisabeth
Published in Annals of neurology (01.11.2016)
Published in Annals of neurology (01.11.2016)
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Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia
Hervé, Dominique, Philippi, Anne, Belbouab, Reda, Zerah, Michel, Chabrier, Stéphane, Collardeau-Frachon, Sophie, Bergametti, Francoise, Essongue, Aurore, Berrou, Eliane, Krivosic, Valérie, Sainte-Rose, Christian, Houdart, Emmanuel, Adam, Frédéric, Billiemaz, Kareen, Lebret, Marilyne, Roman, Sabine, Passemard, Sandrine, Boulday, Gwenola, Delaforge, Audrey, Guey, Stéphanie, Dray, Xavier, Chabriat, Hugues, Brouckaert, Peter, Bryckaert, Maryjke, Tournier-Lasserve, Elisabeth
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
Guey, Stéphanie, Grangeon, Lou, Brunelle, Francis, Bergametti, Françoise, Amiel, Jeanne, Lyonnet, Stanislas, Delaforge, Audrey, Arnould, Minh, Desnous, Béatrice, Bellesme, Céline, Hervé, Dominique, Schwitalla, Jan C, Kraemer, Markus, Tournier-Lasserve, Elisabeth, Kossorotoff, Manoelle
Published in Journal of medical genetics (01.08.2017)
Published in Journal of medical genetics (01.08.2017)
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Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations
Bergametti, Françoise, Viot, Geraldine, Verny, Christophe, Brechard, Marie Pierre, Denier, Christian, Labauge, Pierre, Petit, Paul, Nouet, Aurélien, Viallet, François, Chaussenot, Annabelle, Hervé, Dominique, Tournier-Lasserve, Elisabeth, Riant, Florence
Published in Journal of medical genetics (01.06.2020)
Published in Journal of medical genetics (01.06.2020)
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Journal Article
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O, Tournier-Lasserve, Elisabeth
Published in Human genomics (20.03.2023)
Published in Human genomics (20.03.2023)
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End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy
Aloui, Chaker, Hervé, Dominique, Marenne, Gaelle, Savenier, Florian, Le Guennec, Kilan, Bergametti, Francoise, Verdura, Edgard, Ludwig, Thomas E., Lebenberg, Jessica, Jabeur, Waliyde, Morel, Hélène, Coste, Thibault, Demarquay, Geneviève, Bachoumas, Panagiotis, Cogez, Julien, Mathey, Guillaume, Bernard, Emilien, Chabriat, Hugues, Génin, Emmanuelle, Tournier‐Lasserve, Elisabeth
Published in Annals of neurology (01.12.2021)
Published in Annals of neurology (01.12.2021)
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Cerebral Cavernous Malformations Arise Independent of the Heart of Glass Receptor
Zheng, Xiangjian, Riant, Florence, Bergametti, Françoise, Myers, Cynthia D, Tang, Alan T, Kleaveland, Benjamin, Pan, Wei, Yang, Jisheng, Tournier-Lasserve, Elisabeth, Kahn, Mark L
Published in Stroke (1970) (01.05.2014)
Published in Stroke (1970) (01.05.2014)
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An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease
Aloui, Chaker, Neumann, Lisa, Bergametti, Françoise, Sartori, Eric, Herbreteau, Marc, Maillard, Arnaud, Coste, Thibault, Morel, Hélène, Hervé, Dominique, Chabriat, Hugues, Timsit, Serge, Viakhireva, Irina, Denoyer, Yves, Allibert, Rémi, Demurger, Florence, Gollion, Cedric, Vermersch, Patrick, Marchelli, Florence, Blugeon, Corinne, Lemoine, Sophie, Tourtier-Bellosta, Claire, Brouazin, Alexis, Leutenegger, Anne-Louise, Pipiras, Eva, Tournier-Lasserve, Elisabeth
Published in JAMA network open (17.04.2024)
Published in JAMA network open (17.04.2024)
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The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Pinard, Amélie, Guey, Stéphanie, Guo, Dongchuan, Cecchi, Alana C, Kharas, Natasha, Wallace, Stephanie, Regalado, Ellen S, Hostetler, Ellen M, Sharrief, Anjail Z, Bergametti, Françoise, Kossorotoff, Manoelle, Hervé, Dominique, Kraemer, Markus, Bamshad, Michael J, Nickerson, Deborah A, Smith, Edward R, Tournier-Lasserve, Elisabeth, Milewicz, Dianna M
Published in Genetics in medicine (01.02.2020)
Published in Genetics in medicine (01.02.2020)
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