Search Results - "Riant, Florence"

Eye movement disorders are an early manifestation of CACNA1A mutations in children 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

“…Aim The alpha‐1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may…”
Get full text

Mutations in the netrin-1 gene cause congenital mirror movements 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, Vidailhet, Marie, Rouleau, Guy A, Brice, Alexis, Chédotal, Alain, Dusart, Isabelle, Roze, Emmanuel, Markie, David

“…Netrin-1 is a secreted protein that was first identified 20 years ago as an axon guidance molecule that regulates midline crossing in the CNS. It plays…”
Get full text

The multiple faces of the ATP1A3-related dystonic movement disorder 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

Get full text

Defective membrane expression of the Na⁺-HCO₃⁻ cotransporter NBCe1 is associated with familial migraine by Suzuki, Masashi, Van Paesschen, Wim, Stalmans, Ingeborg, Horita, Shoko, Yamada, Hideomi, Bergmans, Bruno A, Legius, Eric, Riant, Florence, De Jonghe, Peter, Li, Yuehong, Sekine, Takashi, Igarashi, Takashi, Fujimoto, Ichiro, Mikoshiba, Katsuhiko, Shimadzu, Mitsunobu, Shiohara, Masaaki, Braverman, Nancy, Al-Gazali, Lihadh, Fujita, Toshiro, Seki, George

“…Homozygous mutations in SLC4A4, encoding the electrogenic Na⁺-HCO₃⁻ cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and…”
Get full text

Genotype-phenotype correlations in cerebral cavernous malformations patients by Denier, Christian, Labauge, Pierre, Bergametti, Françoise, Marchelli, Florence, Riant, Florence, Arnoult, Minh, Maciazek, Jacqueline, Vicaut, Eric, Brunereau, Laurent, Tournier-Lasserve, Elisabeth

“…Objective To compare clinical features of CCM1, CCM2, and CCM3 mutation carriers. Methods A detailed clinical and molecular analysis of 163 consecutive…”
Get full text

Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy 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

“…Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identified in Mendelian forms of MMA, but they…”
Get full text

FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9 by Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe

“…We report four patients from two families who presented attacks of childhood‐onset episodic ataxia associated with pathogenic mutations in the FGF14 gene…”
Get full text

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy by Nicolas, Gaël, Wallon, David, Goupil, Claudia, Richard, Anne-Claire, Pottier, Cyril, Dorval, Véronique, Sarov-Rivière, Mariana, Riant, Florence, Hervé, Dominique, Amouyel, Philippe, Guerchet, Maelenn, Ndamba-Bandzouzi, Bebene, Mbelesso, Pascal, Dartigues, Jean-François, Lambert, Jean-Charles, Preux, Pierre-Marie, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Tournier-Lasserve, Elisabeth, Hébert, Sébastien S, Rovelet-Lecrux, Anne

“…Aβ-related cerebral amyloid angiopathy (CAA) is a major cause of primary non-traumatic brain hemorrhage. In families with an early onset of the disease, CAA…”
Get full text

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations by Denier, Christian, Labauge, Pierre, Brunereau, Laurent, Cavé-Riant, Florence, Marchelli, Florence, Arnoult, Minh, Cecillon, Michaelle, Maciazek, Jacqueline, Joutel, Anne, Tournier-Lasserve, Elisabeth

“…Cerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal…”
Get full text

The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile 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, Boddaert, Nathalie, Debily, Marie-Anne, Hasty, Lauren, Polivka, Marc, Adle-Biassette, Homa, Métais, Alice, Lechapt, Emmanuèle, Chrétien, Fabrice, Sahm, Felix, Sievers, Philipp, Varlet, Pascale

“…The International Society for the Study of Vascular Anomalies (ISSVA) has defined four vascular lesions in the central nervous system (CNS): arteriovenous…”
Get full text

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins by Castiglioni, Claudia, López, Isabel, Riant, Florence, Bertini, Enrico, Terracciano, Alessandra

“…Abstract PRRT2 gene mutations have recently been identified as a causative gene of Paroxysmal kinesigenic dyskinesia (PKD), a rare movement disorder…”
Get full text

JAML, a novel protein with characteristics of a junctional adhesion molecule, is induced during differentiation of myeloid leukemia cells by Moog-Lutz, Christel, Cavé-Riant, Florence, Guibal, Florence C., Breau, Marie A., Di Gioia, Yolande, Couraud, Pierre Olivier, Cayre, Yvon E., Bourdoulous, Sandrine, Lutz, Pierre G.

“…Retinoic acid induces clinical remission in acute promyelocytic leukemia (APL) by triggering differentiation of leukemia promyelocytes. Here, we have…”
Get full text

A novel hereditary small vessel disease of the brain by Verreault, Steve, Joutel, Anne, Riant, Florence, Neves, Georgina, Rui Silva, Mario, Maciazek, Jacqueline, Tournier-Lasserve, Elizabeth, Bousser, Marie-Germaine, Chabriat, Hugues

“…Objective Only few hereditary ischemic small vessel diseases of the brain (SVDB) have been reported so far. Cerebral autosomal dominant arteriopathy with…”
Get full text

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations by Cavé-Riant, Florence, Denier, Christian, Labauge, Pierre, Cécillon, Michaelle, Maciazek, Jacqueline, Joutel, Anne, Laberge-Le Couteulx, Sophie, Tournier-Lasserve, Elisabeth

“…Cerebral Cavernous Malformations (CCM/MIM 604214) are vascular malformations characterised by abnormally enlarged capillary cavities without intervening brain…”
Get full text

New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus by Beauvais, Katell, Cavé-Riant, Florence, De Barace, Claire, Tardieu, Marc, Tournier-Lasserve, Elisabeth, Furby, Alain

Get more information

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations by Chaussenot, Annabelle, Ayrignac, Xavier, Chatron, Nicolas, Granchon-Riolzir, Terry, Labauge, Pierre, Tournier-Lasserve, Elisabeth, Riant, Florence

“…Loss-of-function variants in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple cerebral…”
Get full text

CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y) by Ishida, Chiho, Sakajiri, Ken-ichi, Yoshita, Mitsuhiro, Joutel, Anne, Cave-Riant, Florence, Yamada, Masahito

“…We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a…”
Get full text

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM by Riant, Florence, Bergametti, Francoise, Ayrignac, Xavier, Boulday, Gwenola, Tournier-Lasserve, Elisabeth

“…Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three…”
Get full text

Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia by Cousyn, Louis, Demeret, Sophie, Philippi, Anne, Bergametti, Françoise, Villa, Chiara, Morbini, Patrizia, Riant, Florence, Soulier, Jean, Tournier-Lasserve, Elisabeth, Denier, Christian

Get full text

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies 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, Tison, François, Ullmann, Urielle, Van Maldergem, Lionel, Mochel, Fanny, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra

“…Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of…”
Get full text