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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34264-y
By:
- Leitão, Elsa;
- Schröder, Christopher;
- Parenti, Ilaria;
- Dalle, Carine;
- Rastetter, Agnès;
- Kühnel, Theresa;
- Kuechler, Alma;
- Kaya, Sabine;
- Gérard, Bénédicte;
- Schaefer, Elise;
- Nava, Caroline;
- Drouot, Nathalie;
- Engel, Camille;
- Piard, Juliette;
- Duban-Bedu, Bénédicte;
- Villard, Laurent;
- Stegmann, Alexander P. A.;
- Vanhoutte, Els K.;
- Verdonschot, Job A. J.;
- Kaiser, Frank J.
Publication type:
Article
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Published in:
2018
By:
- Marini, Carla;
- Porro, Alessandro;
- Rastetter, Agnès;
- Dalle, Carine;
- Rivolta, Ilaria;
- Bauer, Daniel;
- Oegema, Renske;
- Nava, Caroline;
- Parrini, Elena;
- Mei, Davide;
- Mercer, Catherine;
- Dhamija, Radhika;
- Chambers, Chelsea;
- Coubes, Christine;
- Thévenon, Julien;
- Kuentz, Paul;
- Julia, Sophie;
- Pasquier, Laurent;
- Dubourg, Christèle;
- Carré, Wilfrid
Publication type:
journal article
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Published in:
Nature Genetics, 2014, v. 46, n. 6, p. 640, doi. 10.1038/ng.2952
By:
- Nava, Caroline;
- Dalle, Carine;
- Rastetter, Agnès;
- Striano, Pasquale;
- de Kovel, Carolien G F;
- Nabbout, Rima;
- Cancès, Claude;
- Ville, Dorothée;
- Brilstra, Eva H;
- Gobbi, Giuseppe;
- Raffo, Emmanuel;
- Bouteiller, Delphine;
- Marie, Yannick;
- Trouillard, Oriane;
- Robbiano, Angela;
- Keren, Boris;
- Agher, Dahbia;
- Roze, Emmanuel;
- Lesage, Suzanne;
- Nicolas, Aude
Publication type:
Article
Inhibition of the I<sub>h</sub> current in isolated peripheral nerve: A novel mode of peripheral antinociception?
Published in:
Muscle & Nerve, 2001, v. 24, n. 2, p. 254, doi. 10.1002/1097-4598(200102)24:2<254::AID-MUS110>3.0.CO;2-#
By:
- Dalle, Carine;
- Schneider, Markus;
- Clergue, François;
- Bretton, Christine;
- Jirounek, Petr
Publication type:
Article
Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity.
Published in:
Cellular & Molecular Life Sciences, 2023, v. 80, n. 6, p. 1, doi. 10.1007/s00018-023-04797-6
By:
- Lefebvre-Omar, Cynthia;
- Liu, Elise;
- Dalle, Carine;
- d’Incamps, Boris Lamotte;
- Bigou, Stéphanie;
- Daube, Clément;
- Karpf, Léa;
- Davenne, Marc;
- Robil, Noémie;
- Jost Mousseau, Coline;
- Blanchard, Stéphane;
- Tournaire, Guillaume;
- Nicaise, Charles;
- Salachas, François;
- Lacomblez, Lucette;
- Seilhean, Danielle;
- Lobsiger, Christian S.;
- Millecamps, Stéphanie;
- Boillée, Séverine;
- Bohl, Delphine
Publication type:
Article
Regulation of potassium channel genes important in epilepsy.
Published in:
FASEB Journal, 2007, v. 21, n. 6, p. A957, doi. 10.1096/fasebj.21.6.a957-b
By:
- Wood, Ian Christopher;
- Dalle, Carine;
- Mucha, Mariusz;
- Robertson, Brian
Publication type:
Article
3-O-sulfated heparan sulfate interactors target synaptic adhesion molecules from neonatal mouse brain and inhibit neural activity and synaptogenesis in vitro.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-76030-4
By:
- Maïza, Auriane;
- Sidahmed-Adrar, Nazha;
- Michel, Patrick P.;
- Carpentier, Gilles;
- Habert, Damien;
- Dalle, Carine;
- Redouane, Walid;
- Hamza, Magda;
- van Kuppevelt, TH;
- Ouidja, Mohand Ouidir;
- Courty, José;
- Chantepie, Sandrine;
- Papy-Garcia, Dulce;
- Stettler, Olivier
Publication type:
Article
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 14, p. 2972, doi. 10.1093/hmg/ddw148
By:
- Gautier, Clément A.;
- Erpapazoglou, Zoi;
- Mouton-Liger, François;
- Muriel, Marie Paule;
- Cormier, Florence;
- Bigou, Stéphanie;
- Duffaure, Sophie;
- Girard, Mathilde;
- Foret, Benjamin;
- Iannielli, Angelo;
- Broccoli, Vania;
- Dalle, Carine;
- Bohl, Delphine;
- Michel, Patrick P.;
- Corvol, Jean-Christophe;
- Brice, Alexis;
- Corti, Olga
Publication type:
Article
A204E mutation in Na<sub>v</sub>1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34750-8
By:
- Kokunai, Yosuke;
- Dalle, Carine;
- Vicart, Savine;
- Sternberg, Damien;
- Pouliot, Valérie;
- Bendahhou, Said;
- Fournier, Emmanuel;
- Chahine, Mohamed;
- Fontaine, Bertrand;
- Nicole, Sophie
Publication type:
Article
Transcriptional Control of KCNQ Channel Genes and the Regulation of Neuronal Excitability.
Published in:
Journal of Neuroscience, 2010, v. 30, n. 40, p. 13235, doi. 10.1523/JNEUROSCI.1981-10.2010
By:
- Mucha, Mariusz;
- Ooi, Lezanne;
- Linley, John E.;
- Mordaka, Pawel;
- Dalle, Carine;
- Robertson, Brian;
- Gamper, Nikita;
- Wood, Ian C.
Publication type:
Article

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