Search Results - "Legallic, Solenn"

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease by Rovelet-Lecrux, Anne, Deramecourt, Vincent, Legallic, Solenn, Maurage, Claude-Alain, Le Ber, Isabelle, Brice, Alexis, Lambert, Jean-Charles, Frébourg, Thierry, Hannequin, Didier, Pasquier, Florence, Campion, Dominique

“…Abstract Progranulin gene ( PGRN ) mutations cause ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17 (FTLDU-17). The spectrum of…”
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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification by NICOLAS, Gaël, POTTIER, Cyril, MARTINAUD, Olivier, DEFEBVRE, Luc, KRYSTKOWIAK, Pierre, PARIENTE, Jérémie, CLANET, Michel, LABAUGE, Pierre, AYRIGNAC, Xavier, LEFAUCHEUR, Romain, LE BER, Isabelle, FREBOURG, Thierry, MALTETE, David, HANNEQUIN, Didier, CAMPION, Dominique, COUTANT, Sophie, ROVELET-LECRUX, Anne, LEGALLIC, Solenn, ROUSSEAU, Stéphane, VASCHALDE, Yvan, GUYANT-MARECHAL, Lucie, AUGUSTIN, Jérôme

“…To identify a new idiopathic basal ganglia calcification (IBGC)-causing gene. In a 3-generation family with no SLC20A2 mutation, we performed whole exome…”
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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration by Benajiba, Lina, Le Ber, Isabelle, Camuzat, Agnès, Lacoste, Mathieu, Thomas-Anterion, Catherine, Couratier, Philippe, Legallic, Solenn, Salachas, François, Hannequin, Didier, Decousus, Marielle, Lacomblez, Lucette, Guedj, Eric, Golfier, Véronique, Camu, William, Dubois, Bruno, Campion, Dominique, Meininger, Vincent, Brice, Alexis

“…TDP‐43 (TAR‐DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD…”
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A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease by ROVELET-LECRUX, Anne, LEGALLIC, Solenn, PUEL, Michele, PAQUET, Claire, CROISILE, Bernard, THOMAS-ANTERION, Catherine, VERCELLETTO, Martine, LEVY, Richard, FREBOURG, Thierry, HANNEQUIN, Didier, CAMPION, Dominique, WALLON, David, FLAMAN, Jean-Michel, MARTINAUD, Olivier, BOMBOIS, Stéphanie, ROLLIN-SILLAIRE, Adeline, MICHON, Agnes, LE BER, Isabelle, PARIENTE, Jérémie

“…Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD…”
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Frontotemporal dementia phenotype associated with MAPT gene duplication by Rovelet-Lecrux, Anne, Hannequin, Didier, Guillin, Olivier, Legallic, Solenn, Jurici, Snejana, Wallon, David, Frebourg, Thierry, Campion, Dominique

“…Microduplications at 17q21.31 have recently been reported in children with mental retardation, autism spectrum disorders and/or dysmorphic features, as well as…”
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Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome by Raux, Grégory, Bumsel, Emilie, Hecketsweiler, Bernadette, van Amelsvoort, Therese, Zinkstok, Janneke, Manouvrier-Hanu, Sylvie, Fantini, Carole, Brévière, Georges-Marie M., Di Rosa, Gabriella, Pustorino, Giuseppina, Vogels, Annick, Swillen, Ann, Legallic, Solenn, Bou, Jacqueline, Opolczynski, Gaelle, Drouin-Garraud, Valérie, Lemarchand, Marie, Philip, Nicole, Gérard-Desplanches, Aude, Carlier, Michèle, Philippe, Anne, Nolen, Marie Christine, Heron, Delphine, Sarda, Pierre, Lacombe, Didier, Coizet, Cyril, Alembik, Yves, Layet, Valérie, Afenjar, Alexandra, Hannequin, Didier, Demily, Caroline, Petit, Michel, Thibaut, Florence, Frebourg, Thierry, Campion, Dominique

“…Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental…”
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Type I hyperprolinemia: genotype/phenotype correlations by Guilmatre, Audrey, Legallic, Solenn, Steel, Gary, Willis, Alecia, Di Rosa, Gabriella, Goldenberg, Alice, Drouin-Garraud, Valérie, Guet, Agnès, Mignot, Cyril, Des Portes, Vincent, Valayannopoulos, Vassili, Van Maldergem, Lionel, Hoffman, Jodi D, Izzi, Claudia, Espil-Taris, Caroline, Orcesi, Simona, Bonafé, Luisa, Le Galloudec, Eric, Maurey, Hélène, Ioos, Christine, Afenjar, Alexandra, Blanchet, Patricia, Echenne, Bernard, Roubertie, Agathe, Frebourg, Thierry, Valle, David, Campion, Dominique

“…Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline…”
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No pathogenic rearrangement within the DISC 1 gene in psychosis by Legallic, Solenn, Bou, Jacqueline, Haouzir, Sadeq, Allio, Gabrielle, Demily, Caroline, Petit, Michel, Frebourg, Thierry, Thibaut, Florence, Campion, Dominique

“…A translocation disrupting the DISC 1 gene segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Mutation screening of…”
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Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation by Di Rosa, Gabriella, Pustorino, Giuseppina, Spano, Maria, Campion, Dominique, Calabrò, Marilena, Aguennouz, Mohammed, Caccamo, Daniela, Legallic, Solenn, Sgro, Domenica Lucia, Bonsignore, Maria, Tortorella, Gaetano

“…Type I hyperprolinemia (HPI) is an autosomal recessive disorder caused by proline oxidase deficiency. This enzyme is encoded by the proline dehydrogenase…”
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Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation by Guilmatre, Audrey, Dubourg, Christèle, Mosca, Anne-Laure, Legallic, Solenn, Goldenberg, Alice, Drouin-Garraud, Valérie, Layet, Valérie, Rosier, Antoine, Briault, Sylvain, Bonnet-Brilhault, Frédérique, Laumonnier, Frédéric, Odent, Sylvie, Le Vacon, Gael, Joly-Helas, Géraldine, David, Véronique, Bendavid, Claude, Pinoit, Jean-Michel, Henry, Céline, Impallomeni, Caterina, Germano, Eva, Tortorella, Gaetano, Di Rosa, Gabriella, Barthelemy, Catherine, Andres, Christian, Faivre, Laurence, Frébourg, Thierry, Saugier Veber, Pascale, Campion, Dominique

“…CONTEXT Results of comparative genomic hybridization studies have suggested that rare copy number variations (CNVs) at numerous loci are involved in the cause…”
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ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia by Demily, Caroline, Legallic, Solenn, Bou, Jacqueline, Houy-Durand, Emmanuelle, Van Amelsvoort, Thérèse, Zinkstok, Janneke, Manouvrier-Hanue, Sylvie, Vogels, Annick, Drouin-Garraud, Valérie, Philip, Nicole, Philippe, Anne, Héron, Delphine, Sarda, Pierre, Petit, Michel, Thibaut, Florence, Frébourg, Thierry, Campion, Dominique

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