OpenURL Connection Search

Select item for more details and to access through your institution.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Published in:
2019
By:
- Maljevic, Snezana;
- Keren, Boris;
- Aung, Ye Htet;
- Forster, Ian C;
- Mignot, Cyril;
- Buratti, Julien;
- Lafitte, Aurélie;
- Freihuber, Cécile;
- Rodan, Lance H;
- Bergin, Ann;
- Hubert, Laurence;
- Poirier, Karine;
- Munnich, Arnold;
- Besmond, Claude;
- Hauser, Natalie;
- Miller, Rebecca;
- McWalter, Kirsty;
- Nabbout, Rima;
- Héron, Delphine;
- Leguern, Eric
Publication type:
Letter
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.
Published in:
2014
By:
- Boillot, Morgane;
- Huneau, Clément;
- Marsan, Elise;
- Lehongre, Katia;
- Navarro, Vincent;
- Ishida, Saeko;
- Dufresnois, Béatrice;
- Ozkaynak, Ekim;
- Garrigue, Jérôme;
- Miles, Richard;
- Martin, Benoit;
- Leguern, Eric;
- Anderson, Matthew P;
- Baulac, Stéphanie
Publication type:
journal article
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1820, doi. 10.1111/j.1528-1167.2011.03163.x
By:
- Mignot, Cyril;
- Moutard, Marie-Laure;
- Trouillard, Oriane;
- Gourfinkel-An, Isabelle;
- Jacquette, Aurélia;
- Arveiler, Benoit;
- Morice-Picard, Fanny;
- Lacombe, Didier;
- Chiron, Catherine;
- Ville, Dorothée;
- Charles, Perrine;
- LeGuern, Eric;
- Depienne, Christel;
- Héron, Delphine
Publication type:
Article
Genes in infantile epileptic encephalopathies.
Published in:
Epilepsia (Series 4), 2010, v. 51, p. 69, doi. 10.1111/j.1528-1167.2010.02855.x
By:
- Depienne, Christel;
- Gourfinkel-An, Isabelle;
- Baulac, Stéphanie;
- LeGuern, Eric
Publication type:
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
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Published in:
Human Genetics, 2023, v. 142, n. 12, p. 1747, doi. 10.1007/s00439-023-02611-8
By:
- Martins, Sandra;
- Yahia, Ashraf;
- Costa, Inês P. D.;
- Siddig, Hassab E.;
- Abubaker, Rayan;
- Koko, Mahmoud;
- Corral-Juan, Marc;
- Matilla-Dueñas, Antoni;
- Brice, Alexis;
- Durr, Alexandra;
- Leguern, Eric;
- Ranum, Laura P. W.;
- Amorim, António;
- Elsayed, Liena E. O.;
- Stevanin, Giovanni;
- Sequeiros, Jorge
Publication type:
Article
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 552, doi. 10.1038/ng.2601
By:
- Ishida, Saeko;
- Picard, Fabienne;
- Rudolf, Gabrielle;
- Noé, Eric;
- Achaz, Guillaume;
- Thomas, Pierre;
- Genton, Pierre;
- Mundwiller, Emeline;
- Wolff, Markus;
- Marescaux, Christian;
- Miles, Richard;
- Baulac, Michel;
- Hirsch, Edouard;
- Leguern, Eric;
- Baulac, Stéphanie
Publication type:
Article
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Published in:
Nature Genetics, 2007, v. 39, n. 3, p. 366, doi. 10.1038/ng1980
By:
- Stevanin, Giovanni;
- Santorelli, Filippo M.;
- Azzedine, Hamid;
- Coutinho, Paula;
- Chomilier, Jacques;
- Denora, Paola S.;
- Martin, Elodie;
- Ouvrard-Hernandez, Anne-Marie;
- Tessa, Alessandra;
- Bouslam, Naïma;
- Lossos, Alexander;
- Charles, Perrine;
- Loureiro, José L.;
- Elleuch, Nizar;
- Confavreux, Christian;
- Cruz, Vítor T.;
- Ruberg, Merle;
- Leguern, Eric;
- Grid, Djamel;
- Tazir, Meriem
Publication type:
Article
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Published in:
Nature Genetics, 2002, v. 30, n. 1, p. 22, doi. 10.1038/ng798
By:
- Cuesta, Ana;
- Pedrola, Laia;
- Sevilla, Teresa;
- García-Planells, Javier;
- Chumillas, María José;
- Mayordomo, Fernando;
- LeGuern, Eric;
- Marín, Ignacio;
- Vílchez, Juan J.;
- Palau, Francesc
Publication type:
Article
First genetic evidence of GABA<sub>A</sub> receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene.
Published in:
Nature Genetics, 2001, v. 28, n. 1, p. 46, doi. 10.1038/ng0501-46
By:
- Baulac, Stéphanie;
- Huberfeld, Gilles;
- Gourfinkel-An, Isabelle;
- Mitropoulou, Georgia;
- Beranger, Alexandre;
- Prud'homme, Jean-François;
- Baulac, Michel;
- Brice, Alexis;
- Bruzzone, Roberto;
- LeGuern, Eric
Publication type:
Article
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Published in:
Nature Genetics, 2000, v. 25, n. 1, p. 17, doi. 10.1038/75542
By:
- Bolino, Alessandra;
- Muglia, Maria;
- Conforti, Francesca Luisa;
- LeGuern, Eric;
- Salih, Mustafa A.M.;
- Georgiou, Domna-Maria;
- Christodoulou, Kyproula;
- Hausmanowa-Petrusewicz, Irena;
- Mandich, Paola;
- Schenone, Angelo;
- Gambardella, Antonio;
- Bono, Franco;
- Quattrone, Aldo;
- Devoto, Marcella;
- Monaco, Anthony P.
Publication type:
Article
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
Published in:
Nature Genetics, 2000, v. 24, n. 4, p. 343, doi. 10.1038/74159
By:
- Escayg, Andrew;
- MacDonald, Bryan T.;
- Meisler, Miriam H.;
- Baulac, Stéphanie;
- Huberfeld, Gilles;
- An-Gourfinkel, Isabelle;
- Brice, Alexis;
- LeGuern, Eric;
- Moulard, Bruno;
- Chaigne, Denys;
- Buresi, Catherine;
- Malafosse, Alain
Publication type:
Article
LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.
Published in:
Scientific Reports, 2016, p. 21769, doi. 10.1038/srep21769
By:
- Boillot, Morgane;
- Lee, Chun-Yao;
- Allene, Camille;
- Leguern, Eric;
- Baulac, Stéphanie;
- Rouach, Nathalie
Publication type:
Article
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.738272
By:
- Dahawi, Maha;
- Elmagzoub, Mohamed S.;
- A. Ahmed, Elhami;
- Baldassari, Sara;
- Achaz, Guillaume;
- Elmugadam, Fatima A.;
- Abdelgadir, Wasma A.;
- Baulac, Stéphanie;
- Buratti, Julien;
- Abdalla, Omer;
- Gamil, Sahar;
- Alzubeir, Maha;
- Abubaker, Rayan;
- Noé, Eric;
- Elsayed, Liena;
- Ahmed, Ammar E.;
- Leguern, Eric
Publication type:
Article
Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096387
By:
- Aubart, Mélodie;
- Gobert, Delphine;
- Aubart-Cohen, Fleur;
- Detaint, Delphine;
- Hanna, Nadine;
- d’Indya, Hyacintha;
- Lequintrec, Janine-Sophie;
- Renard, Philippe;
- Vigneron, Anne-Marie;
- Dieudé, Philippe;
- Laissy, Jean-Pierre;
- Koch, Pierre;
- Muti, Christine;
- Roume, Joelle;
- Cusin, Veronica;
- Grandchamp, Bernard;
- Gouya, Laurent;
- LeGuern, Eric;
- Papo, Thomas;
- Boileau, Catherine
Publication type:
Article
Genome-Wide High-Resolution aCGH Analysis of Gestational Choriocarcinomas.
Published in:
PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029426
By:
- HenriettêPoaty;
- PhilippêCoullin;
- Peko, Jean Félix;
- PhilippêDessen;
- Diatta, Ange Lucien;
- Valent, Alexander;
- Leguern, Eric;
- SophiêPrévot;
- Gombé-Mbalawa, Charles;
- Candelier, Jean-Jacques;
- Picard, Jean-Yves;
- Bernheim, Alain
Publication type:
Article
Epilepsy Caused by an Abnormal Alternative Splicing with Dosage Effect of the SV2A Gene in a Chicken Model.
Published in:
PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026932
By:
- Douaud, Marine;
- Feve, Katia;
- Pituello, Fabienne;
- Gourichon, David;
- Boitard, Simon;
- Leguern, Eric;
- Coquerelle, Gé rard;
- Vieaud, Agathe;
- Batini, Cesira;
- Naquet, Robert;
- Vignal, Alain;
- Tixier-Boichard, Michè le;
- Pitel, Frédérique
Publication type:
Article
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness.
Published in:
2000
By:
- Dubourg, Odile;
- Barhoumi, Choukri;
- Azzedine, Hamid;
- Birouk, Nazha;
- Brice, Alexis;
- Bouche, Pierre;
- Leguern, Eric;
- Dubourg, O;
- Barhoumi, C;
- Azzedine, H;
- Birouk, N;
- Brice, A;
- Bouche, P;
- Leguern, E
Publication type:
journal article
Recurrent polyradiculoneuropathy with the 17p11.2 deletion.
Published in:
1997
By:
- Le Forestier, Nadine;
- LeGuern, Eric;
- Coullin, Philippe;
- Birouk, Nazha;
- Maisonobe, Thierry;
- Brice, Alexis;
- Léger, Jean Marc;
- Bouche, Pierre;
- Le Forestier, N;
- LeGuern, E;
- Coullin, P;
- Birouk, N;
- Maisonobe, T;
- Brice, A;
- Léger, J M;
- Bouche, P
Publication type:
journal article
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Published in:
Journal of Molecular Medicine, 2011, v. 89, n. 9, p. 915, doi. 10.1007/s00109-011-0758-y
By:
- Couarch, Philippe;
- Vernia, Santiago;
- Gourfinkel-An, Isabelle;
- Lesca, Gaëtan;
- Gataullina, Svetlana;
- Fedirko, Estelle;
- Trouillard, Oriane;
- Depienne, Christel;
- Dulac, Olivier;
- Steschenko, Dominique;
- Leguern, Eric;
- Sanz, Pascual;
- Baulac, Stéphanie
Publication type:
Article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Published in:
Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
By:
- Henden, Lyndal;
- Freytag, Saskia;
- Afawi, Zaid;
- Baldassari, Sara;
- Berkovic, Samuel;
- Bisulli, Francesca;
- Canafoglia, Laura;
- Casari, Giorgio;
- Crompton, Douglas;
- Depienne, Christel;
- Gecz, Jozef;
- Guerrini, Renzo;
- Helbig, Ingo;
- Hirsch, Edouard;
- Keren, Boris;
- Klein, Karl;
- Labauge, Pierre;
- LeGuern, Eric;
- Licchetta, Laura;
- Mei, Davide
Publication type:
Article
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
Published in:
Human Genetics, 2002, v. 111, n. 3, p. 255, doi. 10.1007/s00439-002-0755-x
By:
- Moulard, Bruno;
- Genton, Pierre;
- Grid, Djamel;
- Jeanpierre, Marc;
- Ouazzani, Réda;
- Mrabet, Amel;
- Morris, Mike;
- LeGuern, Eric;
- Dravet, Charlotte;
- Mauguière, François;
- Utermann, Barbara;
- Baldy-Moulinier, Michel;
- Belaidi, Halima;
- Bertran, Françoise;
- Biraben, Arnaud;
- Ali Chérif, André;
- Chkili, Taieb;
- Crespel, Arielle;
- Darcel, Françoise;
- Dulac, Olivier
Publication type:
Article
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 3, p. 229, doi. 10.1038/sj.ejhg.5200433
By:
- Bernard, Rafaëlle;
- Labelle, Véronique;
- Negre, Philippe;
- Tardieu, Sandrine;
- Azulay, Jean-Philippe;
- Malzac, Perrine;
- Mattéi, Jean-François;
- Leguern, Eric;
- Philip, Nicole;
- Lévy, Nicolas
Publication type:
Article
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 8, p. 849, doi. 10.1038/sj.ejhg.5200382
By:
- Guilbot, Angèle;
- Ravisé, Nicole;
- Bouhouche, Ahmed;
- Coullin, Philippe;
- Birouk, Nazha;
- Maisonobe, Thierry;
- Kuntzer, Thierry;
- Vial, Christophe;
- Grid, Djamel;
- Brice, Alexis;
- LeGuern, Eric
Publication type:
Article
Charcot-Marie-Tooth Disease Type 2A From Typical to Rare Phenotypic and Genotypic Features.
Published in:
JAMA Neurology, 2014, v. 71, n. 8, p. 1036, doi. 10.1001/jamaneurol.2014.629
By:
- Bombelli, Francesco;
- Stojkovic, Tanya;
- Dubourg, Odile;
- Echaniz-Laguna, Andoni;
- Tardieu, Sandrine;
- Larcher, Kathy;
- Amati-Bonneau, Patrizia;
- Latour, Philippe;
- Vignal, Odile;
- Cazeneuve, Cécile;
- Brice, Alexis;
- Leguern, Eric
Publication type:
Article
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?
Published in:
Molecular Autism, 2013, v. 4, n. 1, p. 2, doi. 10.1186/2040-2392-4-47
By:
- Amiet, Claire;
- Gourfinkel-An, Isabelle;
- Laurent, Claudine;
- Bodeau, Nicolas;
- Génin, Bérengère;
- Leguern, Eric;
- Tordjman, Sylvie;
- Cohen, David
Publication type:
Article
Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 9, p. 2749, doi. 10.1093/brain/awq171
By:
- Chabrol, Elodie;
- Navarro, Vincent;
- Provenzano, Giovanni;
- Cohen, Ivan;
- Dinocourt, Céline;
- Rivaud-Péchoux, Sophie;
- Fricker, Desdemona;
- Baulac, Michel;
- Miles, Richard;
- LeGuern, Eric;
- Baulac, Stéphanie
Publication type:
Article
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 4, p. 1062
By:
- Ahmed Bouhouche;
- Nazha Birouk;
- Hamid Azzedine;
- Ali Benomar;
- Garry Durosier;
- Dorothée Ente;
- Marie-Paule Muriel;
- Merle Ruberg;
- Ilham Slassi;
- Mohamed Yahyaoui;
- Odile Dubourg;
- Reda Ouazzani;
- Eric LeGuern
Publication type:
Article
A locus for simple pure febrile seizures maps to chromosome 6q22–q24.
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 12, p. 2668, doi. 10.1093/brain/awf281
By:
- Nabbout, Rima;
- Prud’homme, Jean‐François;
- Herman, Alexandra;
- Feingold, Josué;
- Brice, Alexis;
- Dulac, Olivier;
- LeGuern, Eric
Publication type:
Article
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 6, p. 994, doi. 10.1111/epi.13391
By:
- Weckhuysen, Sarah;
- Marsan, Elise;
- Lambrecq, Virginie;
- Marchal, Cécile;
- Morin‐Brureau, Mélanie;
- An‐Gourfinkel, Isabelle;
- Baulac, Michel;
- Fohlen, Martine;
- Kallay Zetchi, Christine;
- Seeck, Margitta;
- Grange, Pierre;
- Dermaut, Bart;
- Meurs, Alfred;
- Thomas, Pierre;
- Chassoux, Francine;
- Leguern, Eric;
- Picard, Fabienne;
- Baulac, Stéphanie
Publication type:
Article
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.
Published in:
2018
By:
- Ribierre, Théo;
- Deleuze, Charlotte;
- Bacq, Alexandre;
- Baldassari, Sara;
- Marsan, Elise;
- Chipaux, Mathilde;
- Muraca, Giuseppe;
- Roussel, Delphine;
- Navarro, Vincent;
- Leguern, Eric;
- Miles, Richard;
- Baulac, Stéphanie
Publication type:
journal article
Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation.
Published in:
2009
By:
- Seilhean, Danielle;
- Cazeneuve, Cécile;
- Thuriès, Valérie;
- Russaouen, Odile;
- Millecamps, Stéphanie;
- Salachas, François;
- Meininger, Vincent;
- LeGuern, Eric;
- Duyckaerts, Charles
Publication type:
Report
Depdc5 knockdown causes mTOR‐dependent motor hyperactivity in zebrafish.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 5, p. 510, doi. 10.1002/acn3.542
By:
- de Calbiac, Hortense;
- Dabacan, Adriana;
- Marsan, Elise;
- Tostivint, Hervé;
- Devienne, Gabrielle;
- Ishida, Saeko;
- Leguern, Eric;
- Baulac, Stéphanie;
- Muresan, Raul C.;
- Kabashi, Edor;
- Ciura, Sorana
Publication type:
Article
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 477, doi. 10.1111/cge.13696
By:
- Desprairies, Camille;
- Valence, Stéphanie;
- Maurey, Hélène;
- Helal, Suzette I.;
- Weckhuysen, Sarah;
- Soliman, Hala;
- Mefford, Heather C.;
- Spentchian, Myrtille;
- Héron, Delphine;
- Leguern, Eric;
- Nava, Caroline;
- Bouilleret, Viviane;
- Moretti, Raffaella;
- Mignot, Cyril
Publication type:
Article
Familial focal epilepsy with focal cortical dysplasia due to DEPDC 5 mutations.
Published in:
Annals of Neurology, 2015, v. 77, n. 4, p. 675, doi. 10.1002/ana.24368
By:
- Baulac, Stéphanie;
- Ishida, Saeko;
- Marsan, Elise;
- Miquel, Catherine;
- Biraben, Arnaud;
- Nguyen, Dang Khoa;
- Nordli, Doug;
- Cossette, Patrick;
- Nguyen, Sylvie;
- Lambrecq, Virginie;
- Vlaicu, Mihaela;
- Daniau, Maïlys;
- Bielle, Franck;
- Andermann, Eva;
- Andermann, Frederick;
- Leguern, Eric;
- Chassoux, Francine;
- Picard, Fabienne
Publication type:
Article
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Published in:
2015
By:
- Baulac, Stéphanie;
- Ishida, Saeko;
- Marsan, Elise;
- Miquel, Catherine;
- Biraben, Arnaud;
- Nguyen, Dang Khoa;
- Nordli, Doug;
- Cossette, Patrick;
- Nguyen, Sylvie;
- Lambrecq, Virginie;
- Vlaicu, Mihaela;
- Daniau, Maïlys;
- Bielle, Franck;
- Andermann, Eva;
- Andermann, Frederick;
- Leguern, Eric;
- Chassoux, Francine;
- Picard, Fabienne
Publication type:
Journal Article
Spinocerebellar ataxia type 10 in the French population.
Published in:
2002
By:
- Fujigasaki, Hiroto;
- Tardieu, Sandrine;
- Camuzat, Agnès;
- Stevanin, Giovanni;
- LeGuern, Eric;
- Matsuura, Tohru;
- Ashizawa, Tetsuo;
- Dürr, Alexandra;
- Brice, Alexis;
- Camuzat, Agnès;
- Dürr, Alexandra
Publication type:
commentary
Edg-2 in myelin-forming cells: Isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease.
Published in:
Glia, 1999, v. 26, n. 2, p. 176, doi. 10.1002/(SICI)1098-1136(199904)26:2<176::AID-GLIA8>3.0.CO;2-K
By:
- Allard, Julien;
- Barron, Sonia;
- Trottier, Suzanne;
- Cervera, Pascale;
- Daumas-Duport, Catherine;
- Leguern, Eric;
- Brice, Alexis;
- Schwartz, Jean-Charles;
- Sokoloff, Pierre
Publication type:
Article
A rat model for LGI1-related epilepsies.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 16, p. 3546, doi. 10.1093/hmg/dds184
By:
- Baulac, Stéphanie;
- Ishida, Saeko;
- Mashimo, Tomoji;
- Boillot, Morgane;
- Fumoto, Naohiro;
- Kuwamura, Mitsuru;
- Ohno, Yukihiro;
- Takizawa, Akiko;
- Aoto, Toshihiro;
- Ueda, Masatsugu;
- Ikeda, Akio;
- LeGuern, Eric;
- Takahashi, Ryosuke;
- Serikawa, Tadao
Publication type:
Article
Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's Disease.
Published in:
Movement Disorders, 2024, v. 39, n. 9, p. 1647, doi. 10.1002/mds.29914
By:
- Cogan, Guillaume;
- Daida, Kensuke;
- Billingsley, Kimberley J.;
- Tesson, Christelle;
- Forlani, Sylvie;
- Jornea, Ludmila;
- Arnaud, Lionel;
- Tissier, Laurène;
- LeGuern, Eric;
- Singleton, Andrew B.;
- Ferrien, Mélanie;
- Bernard, Hélène Gervais;
- Lesage, Suzanne;
- Blauwendraat, Cornelis;
- Brice, Alexis
Publication type:
Article
RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Published in:
Movement Disorders, 2021, v. 36, n. 3, p. 771, doi. 10.1002/mds.28371
By:
- Sainte Agathe, Jean‐Madeleine;
- Mercier, Sandra;
- Mahé, Jean‐Yves;
- Péréon, Yann;
- Buratti, Julien;
- Tissier, Laurène;
- Kol, Bophara;
- Said, Samia Ait;
- Leguern, Éric;
- Banneau, Guillaume;
- Stévanin, Giovanni
Publication type:
Article
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
Published in:
Acta Neuropathologica, 2013, v. 125, n. 4, p. 511, doi. 10.1007/s00401-013-1090-0
By:
- Teyssou, Elisa;
- Takeda, Takahiro;
- Lebon, Vincent;
- Boillée, Séverine;
- Doukouré, Brahima;
- Bataillon, Guillaume;
- Sazdovitch, Véronique;
- Cazeneuve, Cécile;
- Meininger, Vincent;
- LeGuern, Eric;
- Salachas, François;
- Seilhean, Danielle;
- Millecamps, Stéphanie
Publication type:
Article
PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder.
Published in:
Human Mutation, 2012, v. 33, n. 4, p. 627, doi. 10.1002/humu.22029
By:
- Depienne, Christel;
- LeGuern, Eric
Publication type:
Article
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Published in:
Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876
By:
- Saint-Martin, Cécile;
- Gauvain, Grégory;
- Teodorescu, Georgeta;
- Gourfinkel-An, Isabelle;
- Fedirko, Estelle;
- Weber, Yvonne G.;
- Maljevic, Snezana;
- Ernst, Jan-Peter;
- Garcia-Olivares, Jennie;
- Fahlke, Christoph;
- Nabbout, Rima;
- LeGuern, Eric;
- Lerche, Holger;
- Poncer, Jean Christophe;
- Depienne, Christel
Publication type:
Article
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
Published in:
Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419
By:
- Depienne, Christel;
- Arzimanoglou, Alexis;
- Trouillard, Oriane;
- Fedirko, Estelle;
- Baulac, Stéphanie;
- Saint-Martin, Cécile;
- Ruberg, Merle;
- Dravet, Charlotte;
- Nabbout, Rima;
- Baulac, Michel;
- Gourfinkel-An, Isabelle;
- Leguern, Eric
Publication type:
Article
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 12, p. 2285, doi. 10.1093/hmg/8.12.2285
By:
- Lopes, Judith;
- Tardieu, Sandrine;
- Silander, Kaisa;
- Blair, Ian;
- Vandenberghe, Antoon;
- Palau, Francesco;
- Ruberg, Merle;
- Brice, Alexis;
- LeGuern, Eric
Publication type:
Article
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Published in:
Genes, 2022, v. 13, n. 2, p. 318, doi. 10.3390/genes13020318
By:
- Benquey, Thibaut;
- Pion, Emmanuelle;
- Cossée, Mireille;
- Krahn, Martin;
- Stojkovic, Tanya;
- Perrin, Aurélien;
- Cerino, Mathieu;
- Molon, Annamaria;
- Lia, Anne-Sophie;
- Magdelaine, Corinne;
- Francou, Bruno;
- Guiochon-Mantel, Anne;
- Malinge, Marie-Claire;
- Leguern, Eric;
- Lévy, Nicolas;
- Attarian, Shahram;
- Latour, Philippe;
- Bonello-Palot, Nathalie
Publication type:
Article
Fronto-temporal lobar degeneration: neuropathology in 60 cases.
Published in:
Journal of Neural Transmission, 2011, v. 118, n. 5, p. 753, doi. 10.1007/s00702-011-0649-y
By:
- Seilhean, Danielle;
- Ber, Isabelle;
- Sarazin, Marie;
- Lacomblez, Lucette;
- Millecamps, Stéphanie;
- Salachas, François;
- Pradat, Pierre-François;
- Forestier, Nadine;
- LeGuern, Eric;
- Dubois, Bruno;
- Meininger, Vincent;
- Brice, Alexis;
- Hauw, Jean-Jacques;
- Duyckaerts, Charles
Publication type:
Article
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.
Published in:
2001
By:
- Baulac, Stéphanie;
- Picard, Fabienne;
- Herman, Alexandra;
- Feingold, Josué;
- Genin, Emmanuelle;
- Hirsch, Edouard;
- Prud'Homme, Jean-François;
- Baulac, Michel;
- Brice, Alexis;
- LeGuern, Eric;
- Baulac, S;
- Picard, F;
- Herman, A;
- Feingold, J;
- Genin, E;
- Hirsch, E;
- Prud'homme, J F;
- Baulac, M;
- Brice, A;
- LeGuern, E
Publication type:
journal article
Ultrastructural PMP22 expression in inherited demyelinating neuropathies.
Published in:
Annals of Neurology, 1996, v. 39, n. 6, p. 813, doi. 10.1002/ana.410390621
By:
- Vallat, Jean-Michel;
- Sindou, Philippe;
- Preux, Pierre-Marie;
- Tabaraud, Fransois;
- Milor, André-Michel;
- Couratier, Philippe;
- Leguern, Eric;
- Brice, Alexis
Publication type:
Article

Found: 60