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The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01384-x
By:
- Tauziède-Espariat, Arnault;
- Pierre, Thibaut;
- Wassef, Michel;
- Castel, David;
- Riant, Florence;
- Grill, Jacques;
- Roux, Alexandre;
- Pallud, Johan;
- Dezamis, Edouard;
- Bresson, Damien;
- Benichi, Sandro;
- Blauwblomme, Thomas;
- Benzohra, Djallel;
- Gauchotte, Guillaume;
- Pouget, Celso;
- Colnat-Coulbois, Sophie;
- Mokhtari, Karima;
- Balleyguier, Corinne;
- Larousserie, Frédérique;
- Dangouloff-Ros, Volodia
Publication type:
Article
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Published in:
2017
By:
- Coutelier, Marie;
- Coarelli, Giulia;
- Monin, Marie-Lorraine;
- Konop, Juliette;
- Davoine, Claire-Sophie;
- Tesson, Christelle;
- Valter, Rémi;
- Anheim, Mathieu;
- Behin, Anthony;
- Castelnovo, Giovanni;
- Charles, Perrine;
- David, Albert;
- Ewenczyk, Claire;
- Fradin, Mélanie;
- Goizet, Cyril;
- Hannequin, Didier;
- Labauge, Pierre;
- Riant, Florence;
- Sarda, Pierre;
- Sznajer, Yves
Publication type:
journal article
Familial form of typical childhood absence epilepsy in a consanguineous context.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1889, doi. 10.1111/j.1528-1167.2010.02649.x
By:
- Abouda, Hanen;
- Hizem, Yosr;
- Gargouri, Amina;
- Depienne, Christel;
- Bouteiller, Delphine;
- Riant, Florence;
- Tournier-Lasserve, Elisabeth;
- Gourfinkel-An, Isabelle;
- LeGuern, Eric;
- Gouider, Riadh
Publication type:
Article
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Published in:
2018
By:
- Humbertclaude, Véronique;
- Krams, Benjamin;
- Nogue, Erika;
- Nagot, Nicolas;
- Annequin, Daniel;
- Tourniaire, Barbara;
- Tournier‐Lasserve, Elisabeth;
- Riant, Florence;
- Roubertie, Agathe;
- Echenne, Bernard;
- Nguyen, Marie‐Ange;
- Doummar, Diane;
- Milh, Mathieu;
- Napuri, Silvia;
- Lion‐François, Laurence;
- Tardieu, Marc;
- Cheuret, Emmanuel;
- Spitz, Marie‐Aude;
- Saint Martin, Anne;
- Dubois, Fanny
Publication type:
journal article
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Published in:
2016
By:
- Tantsis, Esther M;
- Gill, Deepak;
- Griffiths, Lyn;
- Gupta, Sachin;
- Lawson, John;
- Maksemous, Neven;
- Ouvrier, Robert;
- Riant, Florence;
- Smith, Robert;
- Troedson, Christopher;
- Webster, Richard;
- Menezes, Manoj P
Publication type:
journal article
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
Published in:
2010
By:
- Malpas, Timothy J.;
- Riant, Florence;
- Tournier-Lasserve, Elisabeth;
- Vahedi, Katayoun;
- Neville, Brian G. R.
Publication type:
Letter
Association of Genetic Defects in Primary Resected Lung Adenocarcinoma Revealed by Targeted Allelic Imbalance Analysis.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2002, v. 27, n. 4, p. 495, doi. 10.1165/rcmb.4800
By:
- Cave-Riant, Florence;
- Cuillerier, Benoit;
- Beau-Faller, Michèle;
- Martinet, Nadine;
- Alla, François;
- Bronner, Christian;
- Schneider, Anne;
- Oudet, Pierre;
- Gaub, Marie Pierre
Publication type:
Article
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Published in:
2011
By:
- Anheim, Mathieu;
- Maillart, Elisabeth;
- Vuillaumier-Barrot, Sandrine;
- Flamand-Rouvière, Constance;
- Pineau, Fanny;
- Ewenczyk, Claire;
- Riant, Florence;
- Apartis, Emmanuelle;
- Roze, Emmanuel
Publication type:
Letter
Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family.
Published in:
2010
By:
- Chi-un Choe;
- Riant, Florence;
- Gerloff, Christian;
- Tournier-Lasserve, Elisabeth;
- Orth, Michael
Publication type:
Letter
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.
Published in:
Journal of Neurology, 2008, v. 255, n. 10, p. 1600, doi. 10.1007/s00415-008-0982-8
By:
- Roubertie, Agathe;
- Echenne, Bernard;
- Leydet, Julie;
- Soete, Sophie;
- Krams, Benjamin;
- Rivier, François;
- Riant, Florence;
- Tournier-Lasserve, Elisabeth
Publication type:
Article
Long-term improvement of paroxysmal dystonic choreathetosis with acetazolamide.
Published in:
Journal of Neurology, 2006, v. 253, n. 10, p. 1362, doi. 10.1007/s00415-006-0206-z
By:
- Michel, Veronique;
- Riant, Florence;
- Tournier-Lasserve, Elisabeth;
- Guehl, Dominique;
- Lagueny, Alain;
- Bioulac, Bernard;
- Burbaud, Pierre
Publication type:
Article
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 11, p. 733
By:
- Cavé-Riant, Florence;
- Denier, Christian;
- Labauge, Pierre;
- Cécillon, Michaelle;
- Maciazek, Jacqueline;
- Joutel, Anne;
- Laberge-le Couteulx, Sophie;
- Tournier-Lasserve, Elisabeth
Publication type:
Article
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.
Published in:
FEBS Journal, 2010, v. 277, n. 5, p. 1070, doi. 10.1111/j.1742-4658.2009.07535.x
By:
- Riant, Florence;
- Bergametti, Francoise;
- Ayrignac, Xavier;
- Boulday, Gwenola;
- Tournier-Lasserve, Elisabeth
Publication type:
Article
Mutations in the netrin-1 gene cause congenital mirror movements.
Published in:
Journal of Clinical Investigation, 2017, v. 127, n. 11, p. 3923, doi. 10.1172/JCI95442
By:
- Méneret, Aurélie;
- Franz, Elizabeth A.;
- Trouillard, Oriane;
- Oliver, Thomas C.;
- Zagar, Yvrick;
- Robertson, Stephen P.;
- Welniarz, Quentin;
- Gardner, R. J. MacKinlay;
- Gallea, Cécile;
- Srour, Myriam;
- Depienne, Christel;
- Jasoni, Christine L.;
- Dubacq, Caroline;
- Riant, Florence;
- Lamy, Jean-Charles;
- Morel, Marie-Pierre;
- Guérois, Raphael;
- Andreani, Jessica;
- Fouquet, Coralie;
- Doulazmi, Mohamed
Publication type:
Article
FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 565, doi. 10.1002/acn3.51005
By:
- Piarroux, Julie;
- Riant, Florence;
- Humbertclaude, Véronique;
- Remerand, Ganaelle;
- Hadjadj, Jessica;
- Rejou, Franck;
- Coubes, Christine;
- Pinson, Lucile;
- Meyer, Pierre;
- Roubertie, Agathe
Publication type:
Article
Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.
Published in:
Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
By:
- Riant, Florence;
- Burglen, Lydie;
- Corpechot, Michaelle;
- Robert, Julien;
- Durr, Alexandra;
- Solé, Guilhem;
- Petit, Florence;
- Freihuber, Cécile;
- De Marco, Olivier;
- Sarret, Catherine;
- Castelnovo, Giovanni;
- Devillard, Françoise;
- Afenjar, Alexandra;
- Héron, Bénédicte;
- Lasserve, Elisabeth Tournier
Publication type:
Article
A novel hereditary small vessel disease of the brain.
Published in:
Annals of Neurology, 2006, v. 59, n. 2, p. 353
By:
- Steve Verreault;
- Anne Joutel;
- Florence Riant;
- Georgina Neves;
- Mario Rui Silva;
- Jacqueline Maciazek;
- Elizabeth Tournier‐Lasserve;
- Marie‐Germaine Bousser;
- Hugues Chabriat
Publication type:
Article
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
Published in:
Annals of Neurology, 2004, v. 55, n. 2, p. 213
By:
- Christian Denier;
- Pierre Labauge;
- Laurent Brunereau;
- Florence Cavé-Riant;
- Florence Marchelli;
- Minh Arnoult;
- Michaelle Cecillon;
- Jacqueline Maciazek
Publication type:
Article
Cognitive impairment in children with CACNA1A mutations.
Published in:
2020
By:
- Humbertclaude, Veronique;
- Riant, Florence;
- Krams, Benjamin;
- Zimmermann, Valerie;
- Nagot, Nicolas;
- Annequin, Daniel;
- Echenne, Bernard;
- Tournier‐Lasserve, Elisabeth;
- Roubertie, Agathe;
- Bonnemains, Chrystelle;
- Chabrier, Stéphane;
- Cheuret, Emmanuel;
- Doummar, Diane;
- Dubois, Fanny;
- Kossorotoff, Manoelle;
- Leboucq, Nicolas;
- Leydet, Julie;
- Lion‐François, Laurence;
- Meyer, Pierre;
- Milh, Mathieu
Publication type:
journal article
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.
Published in:
Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00471-x
By:
- 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
Publication type:
Article
Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study.
Published in:
European Neurology, 2010, v. 64, n. 2, p. 114, doi. 10.1159/000315145
By:
- Jung, Julien;
- Testard, Hervé;
- Tournier-Lasserve, Elisabeth;
- Riant, Florence;
- Vallet, Anne-Evelyne;
- Berroir, Stéphane;
- Broussolle, Emmanuel
Publication type:
Article
New CACNA1A Gene Mutation in a Case of Familial Hemiplegic Migraine with Status epilepticus.
Published in:
European Neurology, 2004, v. 52, n. 1, p. 58, doi. 10.1159/000079546
By:
- Beauvais, Katell;
- Cavé-Riant, Florence;
- de Barace, Claire;
- Tardieu, Marc;
- Tournier-Lasserve, Elisabeth;
- Furby, Alain
Publication type:
Article
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.
Published in:
Neuroradiology Journal, 2015, v. 28, n. 3, p. 289, doi. 10.1177/1971400915591688
By:
- Garaci, Francesco;
- Marsili, Luisa;
- Riant, Florence;
- Marziali, Simone;
- Cécillon, Michaelle;
- Pasquarelli, Roberto;
- Sangiuolo, Federica;
- Floris, Roberto;
- Novelli, Giuseppe;
- Tournier-Lasserve, Elisabeth;
- Brancati, Francesco
Publication type:
Article
Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study.
Published in:
Movement Disorders, 2022, v. 37, n. 6, p. 1294, doi. 10.1002/mds.29006
By:
- Méneret, Aurélie;
- Mohammad, Shekeeb S.;
- Cif, Laura;
- Doummar, Diane;
- DeGusmao, Claudio;
- Anheim, Mathieu;
- Barth, Magalie;
- Damier, Philippe;
- Demonceau, Nathalie;
- Friedman, Jennifer;
- Gallea, Cécile;
- Gras, Domitille;
- Gurgel‐Giannetti, Juliana;
- Innes, Emily A.;
- Necpál, Ján;
- Riant, Florence;
- Sagnes, Sandrine;
- Sarret, Catherine;
- Seliverstov, Yury;
- Paramanandam, Vijayashankar
Publication type:
Article
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2308, doi. 10.1002/humu.24491
By:
- Leman, Raphaël;
- Parfait, Béatrice;
- Vidaud, Dominique;
- Girodon, Emmanuelle;
- Pacot, Laurence;
- Le Gac, Gérald;
- Ka, Chandran;
- Ferec, Claude;
- Fichou, Yann;
- Quesnelle, Céline;
- Aucouturier, Camille;
- Muller, Etienne;
- Vaur, Dominique;
- Castera, Laurent;
- Boulouard, Flavie;
- Ricou, Agathe;
- Tubeuf, Hélène;
- Soukarieh, Omar;
- Gaildrat, Pascaline;
- Riant, Florence
Publication type:
Article
Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain.
Published in:
Human Mutation, 2008, v. 29, n. 3, p. 452, doi. 10.1002/humu.9527
By:
- Fouillade, Charles;
- Chabriat, Hugues;
- Riant, Florence;
- Mine, Manuèle;
- Arnoud, Minh;
- Magy, Laurent;
- Bousser, Marie Germaine;
- Tournier-Lasserve, Elisabeth;
- Joutel, Anne
Publication type:
Article
ATP1A2 mutations in 11 families with familial hemiplegic migraine.
Published in:
Human Mutation, 2005, v. 26, n. 3, p. 281, doi. 10.1002/humu.9361
By:
- Riant, Florence;
- De Fusco, Maurizio;
- Aridon, Paolo;
- Ducros, Anne;
- Ploton, Claire;
- Marchelli, Florence;
- Maciazek, Jacqueline;
- Bousser, Marie Germaine;
- Casari, Giorgio;
- Tournier-Lasserve, Elisabeth
Publication type:
Article
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
Published in:
Neurogenetics, 2013, v. 14, n. 2, p. 133, doi. 10.1007/s10048-013-0362-0
By:
- Riant, Florence;
- Cecillon, Michaelle;
- Saugier-Veber, Pascale;
- Tournier-Lasserve, Elisabeth
Publication type:
Article
Identification of CACNA1A large deletions in four patients with episodic ataxia.
Published in:
Neurogenetics, 2010, v. 11, n. 1, p. 101, doi. 10.1007/s10048-009-0208-y
By:
- Riant, Florence;
- Lescoat, Christelle;
- Vahedi, Katayoun;
- Kaphan, Elsa;
- Toutain, Annick;
- Soisson, Thierry;
- Wiener-Vacher, Sylvette R.;
- Tournier-Lasserve, Elisabeth
Publication type:
Article
The multiple faces of the ATP1A3-related dystonic movement disorder.
Published in:
Movement Disorders, 2013, v. 28, n. 10, p. 1457, doi. 10.1002/mds.25396
By:
- Roubergue, Anne;
- Roze, Emmanuel;
- Vuillaumier‐Barrot, Sandrine;
- Fontenille, Marie‐Joséphine;
- Méneret, Aurélie;
- Vidailhet, Marie;
- Fontaine, Bertrand;
- Doummar, Diane;
- Philibert, Bertrand;
- Riant, Florence;
- Nicole, Sophie
Publication type:
Article
Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation.
Published in:
Movement Disorders, 2013, v. 28, n. 5, p. 683, doi. 10.1002/mds.25450
By:
- Lambrecq, Virginie;
- Riant, Florence;
- Tournier‐Lasserve, Elisabeth;
- Michel, Véronique;
- Burbaud, Pierre
Publication type:
Article

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