Microvascular obstruction assessed by 3-tesla magnetic resonance imaging in acute myocardial infarction is correlated with plasma troponin I levels

por Pernet, Karine, Ecarnot, Fiona, Chopard, Romain, Seronde, Marie-France, Plastaras, Philoktimon, Schiele, Francois, Meneveau, Nicolas
Publicado 2014

Contiguous mutation syndrome in the era of high-throughput sequencing

por Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M S, Barouki, Robert, Amiel, Jeanne, Colleaux, Laurence
Publicado 2015

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

por Nguyen, Lam Son, Lepleux, Marylin, Makhlouf, Mélanie, Martin, Christelle, Fregeac, Julien, Siquier-Pernet, Karine, Philippe, Anne, Feron, François, Gepner, Bruno, Rougeulle, Claire, Humeau, Yann, Colleaux, Laurence
Publicado 2016

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

por Nicolle, Romain, Altin, Nami, Siquier-Pernet, Karine, Salignac, Sherlina, Blanc, Pierre, Munnich, Arnold, Bole-Feysot, Christine, Malan, Valérie, Caron, Barthélémy, Nitschké, Patrick, Desguerre, Isabelle, Boddaert, Nathalie, Rio, Marlène, Rausell, Antonio, Cantagrel, Vincent
Publicado 2023

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

por Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent
Publicado 2016

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

por Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Reis, Andre, Sticht, Heinrich, Al-Sanna’a, Nouriya, Rolfs, Arndt, Kulik, Akos, Schulte, Uwe, Colleaux, Laurence, Abou Jamra, Rami, Fakler, Bernd
Publicado 2017

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

por Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry
Publicado 2019

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

por Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Publicado 2020