Works by Lesca, A.

Results: 224

Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.

Published in:

2004

By:

Michel-Calemard, Laurence;
Lesca, Gaëtan;
Morel, Yves;
Boggio, Dominique;
Plauchu, Henri;
Attia-Sobol, Jocelyne;
Lesca, Gaëtan

Publication type:

journal article

Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts.

Published in:

1999

By:

Lesca, Gaetan;
Boggio, Dominique;
Bellec, Veronique;
Magaud, Jean-Pierre;
Till, Marianne;
Lesca, G;
Boggio, D;
Bellec, V;
Magaud, J P;
Till, M

Publication type:

journal article

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

Published in:

Genes, 2025, v. 16, n. 6, p. 707, doi. 10.3390/genes16060707

By:

Cabet, Sara;
Ghersi-Egea, Jean-François;
Khung-Savatovsky, Suonavy;
Guimiot, Fabien;
Putoux, Audrey;
Sabatier, Isabelle;
Fernandez, Carla;
Raymond, Laure;
Mortreux, Jérémie;
Laurichesse Delmas, Hélène;
Cuillier, Fabrice Eric;
Ho, Fabien;
Lesca, Gaetan;
Alessandri, Jean-Luc;
Guibaud, Laurent

Publication type:

Article

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00281-5

By:

Sapey-Triomphe, Laurie-Anne;
Reversat, Julie;
Lesca, Gaëtan;
Chatron, Nicolas;
Bussa, Marina;
Mazoyer, Sylvie;
Schmitz, Christina;
Sonié, Sandrine;
Edery, Patrick

Publication type:

Article

Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.

Published in:

Liver International, 2006, v. 26, n. 9, p. 1040, doi. 10.1111/j.1478-3231.2006.01340.x

By:

Buscarini, Elisabetta;
Plauchu, Henry;
Garcia Tsao, Guadalupe;
White, jr., Robert I.;
Sabbà, Carlo;
Miller, Franklin;
Saurin, Jean Cristophe;
Pelage, Jean Pierre;
Lesca, Gaetan;
Marion, Marie Jeanne;
Perna, Annalisa;
Faughnan, Marie E.

Publication type:

Article

Gouvernance d'une organisation : prévoir ouanticiper?

Published in:

Revue des Sciences de Gestion, 2008, n. 231/232, p. 11, doi. 10.1051/larsg:2008029

By:

Lesca, Humbert

Publication type:

Article

Veille Anticipative Stratégique -- Intelligence Collective : Usage innovant du site Web pour la provocation d'informations d'origine terrain.

Published in:

Revue des Sciences de Gestion, 2006, n. 218, p. 19, doi. 10.1051/larsg:2006011

By:

Janissek-Muniz, Raquel;
Freitas, Henrique;
Lesca, Humbert

Publication type:

Article

Sentinel Lymph Node Biopsy in Malignant Melanoma of the Head and Neck: A Single Center Experience.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 553, doi. 10.3390/jcm12020553

By:

Rubatto, Marco;
Picciotto, Franco;
Moirano, Giovenale;
Fruttero, Enrico;
Caliendo, Virginia;
Borriello, Silvia;
Sciamarrelli, Nadia;
Fava, Paolo;
Senetta, Rebecca;
Lesca, Adriana;
Sapino, Anna;
Deandreis, Désirée;
Ribero, Simone;
Quaglino, Pietro

Publication type:

Article

Predictive Value of Baseline [18F]FDG PET/CT for Response to Systemic Therapy in Patients with Advanced Melanoma.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4994, doi. 10.3390/jcm10214994

By:

Liberini, Virginia;
Rubatto, Marco;
Mimmo, Riccardo;
Passera, Roberto;
Ceci, Francesco;
Fava, Paolo;
Tonella, Luca;
Polverari, Giulia;
Lesca, Adriana;
Bellò, Marilena;
Arena, Vincenzo;
Ribero, Simone;
Quaglino, Pietro;
Deandreis, Désirée

Publication type:

Article

Non-Sentinel Lymph Node Detection during Sentinel Lymph Node Biopsy in Not-Complete-Lymph-Node-Dissection Era: A New Technique for Better Staging and Treating Melanoma Patients.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 19, p. 4319, doi. 10.3390/jcm10194319

By:

Picciotto, Franco;
Avallone, Gianluca;
Castellengo, Federico;
Merli, Martina;
Caliendo, Virginia;
Senetta, Rebecca;
Lesca, Adriana;
Deandreis, Désirée;
Fierro, Maria Teresa;
Quaglino, Pietro;
Ribero, Simone

Publication type:

Article

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Published in:

Cerebellum, 2024, v. 23, n. 6, p. 2616, doi. 10.1007/s12311-024-01725-7

By:

Schneider, Vincent;
Dupont, Gwendoline;
Madinier, Guillaume;
Ramond, Francis;
Lesca, Gaetan;
Thauvin-Robinet, Christel;
Thomas, Quentin

Publication type:

Article

Empirical evidence from a connectivist Competitive Intelligence Massive Open Online Course (CI cMOOC) proof of concept.

Published in:

Journal of Intelligence Studies in Business, 2019, v. 9, n. 3, p. 7

By:

Bleoju, Gianita;
Capatina, Alexandru;
Vairinhos, Valter;
Nistor, Rozalia;
Lesca, Nicolas

Publication type:

Article

Collective intelligence process to interpret weak signals and early warnings.

Published in:

Journal of Intelligence Studies in Business, 2019, v. 9, n. 2, p. 19, doi. 10.37380/jisib.v9i2.466

By:

de Almeida, Fernando C.;
Lesca, Humbert

Publication type:

Article

metabolomic approach to identify the link between sports activity and atheroprotection.

Published in:

European Journal of Preventive Cardiology, 2022, v. 29, n. 3, p. 436, doi. 10.1093/eurjpc/zwaa122

By:

Beutner, Frank;
Ritter, Christian;
Scholz, Markus;
Teren, Andrej;
Holdt, Lesca Miriam;
Teupser, Daniel;
Becker, Susen;
Thiele, Holger;
Gielen, Stephan;
Thiery, Joachim;
Ceglarek, Uta

Publication type:

Article

Dose to specific subregions of pelvic bone marrow defined with FDG-PET as a predictor of hematologic nadirs during concomitant chemoradiation in anal cancer patients.

Published in:

Medical Oncology, 2016, v. 33, n. 7, p. 1, doi. 10.1007/s12032-016-0789-x

By:

Franco, Pierfrancesco;
Arcadipane, Francesca;
Ragona, Riccardo;
Lesca, Adriana;
Gallio, Elena;
Mistrangelo, Massimiliano;
Cassoni, Paola;
Arena, Vincenzo;
Bustreo, Sara;
Faletti, Riccardo;
Rondi, Nadia;
Morino, Mario;
Ricardi, Umberto

Publication type:

Article

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 8, p. 2886, doi. 10.1007/s10803-018-3552-7

By:

Demily, Caroline;
Poisson, Alice;
Till, Marianne;
Lesca, Gaétan;
Chatron, Nicolas;
Sanlaville, Damien;
Barcia, Giulia;
Munnich, Arnold

Publication type:

Article

Publication bias in pharmacogenetics of adverse reaction to antiseizure drugs: An umbrella review and a meta-epidemiological study.

Published in:

PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278839

By:

Bally, S.;
Cottin, J.;
Gagnieu, M. C.;
Lega, J. C.;
Verstuyft, C.;
Rheims, S.;
Lesca, G.;
Cucherat, M.;
Grenet, Guillaume

Publication type:

Article

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG).

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63963

By:

Ghasemi, Mohammad‐Reza;
Fateh, Sahand Tehrani;
Ben‐Mahmoud, Afif;
Gupta, Vijay;
Stühn, Lara G.;
Lesca, Gaetan;
Chatron, Nicolas;
Platzer, Konrad;
Edery, Patrick;
Sadeghi, Hossein;
Isidor, Bertrand;
Cogné, Benjamin;
Schulz, Heidi L.;
Krauspe‐Stübecke, Ilona;
Periyasamy, Radhakrishnan;
Nampoothiri, Sheela;
Mirfakhraie, Reza;
Alijanpour, Sahar;
Syrbe, Steffen;
Pfeifer, Ulrich

Publication type:

Article

Impact of the bioresorbable vascular scaffold surface area on on-treatment platelet reactivity.

Published in:

Platelets, 2016, v. 27, n. 5, p. 446, doi. 10.3109/09537104.2016.1143918

By:

Gross, Lisa;
Sibbing, Dirk;
Eickhoff, Madeleine;
Baquet, Moritz;
Orban, Martin;
Krieg, Anne;
Grujic, Katarina;
Theiss, Hans D.;
Brunner, Stefan;
Teupser, Daniel;
Holdt, Lesca;
Massberg, Steffen;
Mehilli, Julinda

Publication type:

Article

Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association.

Published in:

Clinical Infectious Diseases, 2007, v. 44, n. 6, p. 841, doi. 10.1086/511645

By:

Dupuis-Girod, Sophie;
Giraud, Sophie;
Decullier, Evelyne;
Lesca, Gaetan;
Cottin, Vincent;
Faure, Frédéric;
Merrot, Olivier;
Saurin, Jean-Christophe;
Cordier, Jean-François;
Plauchu, Henri

Publication type:

Article

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Published in:

2020

By:

Giraud, Sophie;
Bardel, Claire;
Dupuis-Girod, Sophie;
Carette, Marie-France;
Gilbert-Dussardier, Brigitte;
Riviere, Sophie;
Saurin, Jean-Christophe;
Eyries, Mélanie;
Patri, Sylvie;
Decullier, Evelyne;
Calender, Alain;
Lesca, Gaëtan

Publication type:

journal article

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Published in:

2019

By:

Masson, Julie;
Demily, Caroline;
Chatron, Nicolas;
Labalme, Audrey;
Rollat-Farnier, Pierre-Antoine;
Schluth-Bolard, Caroline;
Gilbert-Dussardier, Brigitte;
Giuliano, Fabienne;
Touraine, Renaud;
Tordjman, Sylvie;
Verloes, Alain;
Testa, Giuseppe;
Sanlaville, Damien;
Edery, Patrick;
Lesca, Gaetan;
Rossi, Massimiliano

Publication type:

Letter

Short-Chain Fatty Acids Improve Poststroke Recovery via Immunological Mechanisms.

Published in:

Journal of Neuroscience, 2020, v. 40, n. 5, p. 1162, doi. 10.1523/jneurosci.1359-19.2019

By:

Sadler, Rebecca;
Cramer, Julia V.;
Heindl, Steffanie;
Kostidis, Sarantos;
Betz, Dene;
Zuurbier, Kielen R.;
Northoff, Bernd H.;
Heijink, Marieke;
Goldberg, Mark P.;
Plautz, Erik J.;
Roth, Stefan;
Malik, Rainer;
Dichgans, Martin;
Holdt, Lesca M.;
Benakis, Corinne;
Giera, Martin;
Stowe, Ann M.;
Liesz, Arthur

Publication type:

Article

Insights from stereoelectroencephalography in KCNT1‐related focal epilepsy suggest a multifocal and migrating epileptogenic network.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 6, p. e90, doi. 10.1111/epi.18425

By:

Gokce‐Samar, Zeynep;
Lesca, Gaëtan;
Bourgeois‐Vionnet, Julie;
Isnard, Jean;
Boulogne, Sébastien;
Valton, Luc;
Catenoix, Hélène;
Marcon‐Mohsen, Claire;
Ostrowsky‐Coste, Karine;
Chatron, Nicolas;
Guenot, Marc;
Rheims, Sylvain;
Montavont, Alexandra

Publication type:

Article

SCN1A pathogenic variants do not have a distinctive blood‐derived DNA methylation signature.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 4, p. e66, doi. 10.1111/epi.18315

By:

LaFlamme, Christy W.;
Karimi, Karim;
Rastin, Cassandra;
Almanza Fuerte, Edith P.;
Allan, Talia;
Russ‐Hall, Sophie J.;
Schneider, Amy L.;
Stobo, Daniel;
Lesca, Gaetan;
Symonds, Joseph D.;
Brunklaus, Andreas;
Sadleir, Lynette G.;
Scheffer, Ingrid E.;
Sadikovic, Bekim;
Mefford, Heather C.

Publication type:

Article

Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 9, p. 2728, doi. 10.1111/epi.18054

By:

Cuccurullo, Claudia;
Cerulli Irelli, Emanuele;
Ugga, Lorenzo;
Riva, Antonella;
D'Amico, Alessandra;
Cabet, Sara;
Lesca, Gaetan;
Bilo, Leonilda;
Zara, Federico;
Iliescu, Catrinel;
Barca, Diana;
Fung, France;
Helbig, Katherine;
Ortiz‐Gonzalez, Xilma;
Schelhaas, Helenius J.;
Willemsen, Marjolein H.;
van der Linden, Inge;
Canafoglia, Laura;
Courage, Carolina;
Gommaraschi, Samuele

Publication type:

Article

Clinical and molecular characterization of patients with YWHAG‐related epilepsy.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 5, p. 1439, doi. 10.1111/epi.17939

By:

Cetica, Valentina;
Pisano, Tiziana;
Lesca, Gaetan;
Marafi, Dana;
Licchetta, Laura;
Riccardi, Florence;
Mei, Davide;
Chung, Hon‐yin B.;
Bayat, Allan;
Balasubramanian, Meena;
Lowenstein, Daniel H.;
Endzinienė, Milda;
Alotaibi, Maha;
Villeneuve, Nathalie;
Jacobs, Julia;
Isidor, Bertrand;
Solazzi, Roberta;
den Hollander, Nicolette S.;
Marjanovic, Dragan;
Rougeot‐Jung, Christelle

Publication type:

Article

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

Published in:

Epilepsia (Series 4), 2023, v. 64, n. 12, p. 3377, doi. 10.1111/epi.17776

By:

Ragnarsson, Lotten;
Zhang, Zihan;
Das, Sooraj S.;
Tran, Poanna;
Andersson, Åsa;
des Portes, Vincent;
Desmettre Altuzarra, Cecilia;
Remerand, Ganaelle;
Labalme, Audrey;
Chatron, Nicolas;
Sanlaville, Damien;
Lesca, Gaetan;
Anggono, Victor;
Vetter, Irina;
Keramidas, Angelo

Publication type:

Article

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Published in:

Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542

By:

Oliver, Karen L.;
Trivisano, Marina;
Mandelstam, Simone A.;
De Dominicis, Angela;
Francis, David I.;
Green, Timothy E.;
Muir, Alison M.;
Chowdhary, Apoorva;
Hertzberg, Christoph;
Goldhahn, Klaus;
Metreau, Julia;
Prager, Christine;
Pinner, Jason;
Cardamone, Michael;
Myers, Kenneth A.;
Leventer, Richard J.;
Lesca, Gaetan;
Bahlo, Melanie;
Hildebrand, Michael S.;
Mefford, Heather C.

Publication type:

Article

Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation.

Published in:

Epilepsia (Series 4), 2022, v. 63, n. 10, p. 2519, doi. 10.1111/epi.17336

By:

Maillard, Pierre‐Yves;
Baer, Sarah;
Schaefer, Élise;
Desnous, Béatrice;
Villeneuve, Nathalie;
Lépine, Anne;
Fabre, Alexandre;
Lacoste, Caroline;
El Chehadeh, Salima;
Piton, Amélie;
Porter, Louise Frances;
Perriard, Caroline;
Wardé, Marie‐Thérèse Abi;
Spitz, Marie‐Aude;
Laugel, Vincent;
Lesca, Gaëtan;
Putoux, Audrey;
Ville, Dorothée;
Mignot, Cyril;
Héron, Delphine

Publication type:

Article

The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2021, v. 62, n. 2, p. 325, doi. 10.1111/epi.16761

By:

Datta, Alexandre N.;
Bahi‐Buisson, Nadia;
Bienvenu, Thierry;
Buerki, Sarah E.;
Gardiner, Fiona;
Cross, J. Helen;
Heron, Bénédicte;
Kaminska, Anna;
Korff, Christian M.;
Lepine, Anne;
Lesca, Gaetan;
McTague, Amy;
Mefford, Heather C.;
Mignot, Cyrill;
Milh, Matthieu;
Piton, Amélie;
Pressler, Ronit M.;
Ruf, Susanne;
Sadleir, Lynette G.;
Saint Martin, Anne

Publication type:

Article

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.

Published in:

Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2474, doi. 10.1111/epi.16699

By:

Matricardi, Sara;
De Liso, Paola;
Freri, Elena;
Costa, Paola;
Castellotti, Barbara;
Magri, Stefania;
Gellera, Cinzia;
Granata, Tiziana;
Musante, Luciana;
Lesca, Gaetan;
Oertel, Julie;
Craiu, Dana;
Hammer, Trine B.;
Møller, Rikke S.;
Barisic, Nina;
Abou Jamra, Rami;
Polster, Tilman;
Vigevano, Federico;
Marini, Carla

Publication type:

Article

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.

Published in:

Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679

By:

Bar, Claire;
Kuchenbuch, Mathieu;
Barcia, Giulia;
Schneider, Amy;
Jennesson, Mélanie;
Le Guyader, Gwenaël;
Lesca, Gaetan;
Mignot, Cyril;
Montomoli, Martino;
Parrini, Elena;
Isnard, Hervé;
Rolland, Anne;
Keren, Boris;
Afenjar, Alexandra;
Dorison, Nathalie;
Sadleir, Lynette G.;
Breuillard, Delphine;
Levy, Raphael;
Rio, Marlène;
Dupont, Sophie

Publication type:

Article

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2020, v. 61, n. 7, p. e71, doi. 10.1111/epi.16582

By:

Trivisano, Marina;
Ferretti, Alessandro;
Bebin, Elizabeth;
Huh, Linda;
Lesca, Gaetan;
Siekierska, Aleksandra;
Takeguchi, Ryo;
Carneiro, Maryline;
De Palma, Luca;
Guella, Ilaria;
Haginoya, Kazuhiro;
Shi, Ruo Ming;
Kikuchi, Atsuo;
Kobayashi, Tomoko;
Jung, Julien;
Lagae, Lieven;
Milh, Mathieu;
Mathieu, Marie L.;
Minassian, Berge A.;
Novelli, Antonio

Publication type:

Article

Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures.

Published in:

Epilepsia (Series 4), 2019, v. 60, n. 5, p. 845, doi. 10.1111/epi.14727

By:

Denis, Julien;
Villeneuve, Nathalie;
Cacciagli, Pierre;
Mignon‐Ravix, Cecile;
Lacoste, Caroline;
Lefranc, Jeremie;
Napuri, Sylvia;
Damaj, Lena;
Villega, Frederic;
Pedespan, Jean‐Michel;
Moutton, Sebastien;
Mignot, Cyril;
Doummar, Diane;
Lion‐François, Laurence;
Gataullina, Svetlana;
Dulac, Olivier;
Martin, Melanie;
Gueden, Sophie;
Lesca, Gaetan;
Julia, Sophie

Publication type:

Article

Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 2, p. 389, doi. 10.1111/epi.13986

By:

Johannesen, Katrine M.;
Gardella, Elena;
Linnankivi, Tarja;
Courage, Carolina;
de Saint Martin, Anne;
Lehesjoki, Anna‐Elina;
Mignot, Cyril;
Afenjar, Alexandra;
Lesca, Gaetan;
Abi‐Warde, Marie‐Thérèse;
Chelly, Jamel;
Piton, Amélie;
Merritt, II, J. Lawrence;
Rodan, Lance H.;
Tan, Wen‐Hann;
Bird, Lynne M.;
Nespeca, Mark;
Gleeson, Joseph G.;
Yoo, Yongjin;
Choi, Murim

Publication type:

Article

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 12, p. 1931, doi. 10.1111/epi.13214

By:

Di Meglio, Chloé;
Lesca, Gaetan;
Villeneuve, Nathalie;
Lacoste, Caroline;
Abidi, Affef;
Cacciagli, Pierre;
Altuzarra, Cécilia;
Roubertie, Agathe;
Afenjar, Alexandra;
Renaldo‐Robin, Florence;
Isidor, Bertrand;
Gautier, Agnes;
Husson, Marie;
Cances, Claude;
Metreau, Julia;
Laroche, Cécile;
Chouchane, Mondher;
Ville, Dorothée;
Marignier, Stéphanie;
Rougeot, Christelle

Publication type:

Article

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 2, p. 370, doi. 10.1111/epi.12502

By:

Dimassi, Sarra;
Labalme, Audrey;
Lesca, Gaetan;
Rudolf, Gabrielle;
Bruneau, Nadine;
Hirsch, Edouard;
Arzimanoglou, Alexis;
Motte, Jacques;
Saint Martin, Anne;
Boutry-Kryza, Nadia;
Cloarec, Robin;
Benitto, Afaf;
Ameil, Agnès;
Edery, Patrick;
Ryvlin, Philippe;
De Bellescize, Julitta;
Szepetowski, Pierre;
Sanlaville, Damien

Publication type:

Article

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na<sup>+</sup> current.

Published in:

Epilepsia (Series 4), 2013, v. 54, n. 9, p. e117, doi. 10.1111/epi.12241

By:

Lauxmann, Stephan;
Boutry‐Kryza, Nadia;
Rivier, Clotilde;
Mueller, Stephan;
Hedrich, Ulrike B. S.;
Maljevic, Snezana;
Szepetowski, Pierre;
Lerche, Holger;
Lesca, Gaetan

Publication type:

Article

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.

Published in:

Epilepsia (Series 4), 2013, v. 54, n. 5, p. e74, doi. 10.1111/epi.12124

By:

Weckhuysen, Sarah;
Holmgren, Philip;
Hendrickx, Rik;
Jansen, Anna C.;
Hasaerts, Daniele;
Dielman, Charlotte;
Bellescize, Julitta;
Boutry‐Kryza, Nadia;
Lesca, Gaetan;
Spiczak, Sarah Von;
Helbig, Ingo;
Gill, Deepak;
Yendle, Simone;
Møller, Rikke S.;
Klitten, Laura;
Korff, Christian;
Godfraind, Catherine;
Rijckevorsel, Kenou;
Jonghe, Peter;
Hjalgrim, Helle

Publication type:

Article

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism.

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 9, p. 1526, doi. 10.1111/j.1528-1167.2012.03559.x

By:

Lesca, Gaetan;
Rudolf, Gabrielle;
Labalme, Audrey;
Hirsch, Edouard;
Arzimanoglou, Alexis;
Genton, Pierre;
Motte, Jacques;
de Saint Martin, Anne;
Valenti, Maria-Paola;
Boulay, Clotilde;
De Bellescize, Julitta;
Kéo-Kosal, Pascale;
Boutry-Kryza, Nadia;
Edery, Patrick;
Sanlaville, Damien;
Szepetowski, Pierre

Publication type:

Article

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.

Published in:

Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1691, doi. 10.1111/j.1528-1167.2010.02692.x

By:

Lesca, Gaetan;
Boutry-Kryza, Nadia;
de Toffol, Bertrand;
Milh, Mathieu;
Steschenko, Dominique;
Lemesle-Martin, Martine;
Maillard, Louis;
Foletti, Giovanni;
Rudolf, Gabrielle;
Nielsen, Jørgen Erik;
á Rogvi-Hansen, Bjarke;
Erdal, Jesper;
Mancini, Josette;
Thauvin-Robinet, Christel;
M’Rrabet, Amel;
Ville, Dorothée;
Szepetowski, Pierre;
Raffo, Emmanuel;
Hirsch, Edouard;
Ryvlin, Philippe

Publication type:

Article

Cell-free circulating ALU repeats in serum have a prognostic value for colorectal cancer patients.

Published in:

Cancer Biomarkers, 2023, v. 37, n. 4, p. 237, doi. 10.3233/CBM-210536

By:

Anzinger, Isabel;
Nagel, Dorothea;
De Toni, Enrico N.;
Ofner, Andrea;
Philipp, Alexander B.;
Holdt, Lesca M.;
Teupser, Daniel;
Kolligs, Frank T.;
Herbst, Andreas

Publication type:

Article

Detection of a Parkinson's Disease–Specific MicroRNA Signature in Nasal and Oral Swabs.

Published in:

Movement Disorders, 2023, v. 38, n. 9, p. 1706, doi. 10.1002/mds.29515

By:

Schließer, Patricia;
Struebing, Felix L.;
Northoff, Bernd H.;
Kurz, Anna;
Rémi, Jan;
Holdt, Lesca;
Höglinger, Günter U.;
Herms, Jochen;
Koeglsperger, Thomas

Publication type:

Article

The p.Asp216His TOR1A allele effect is not found in the French population.

Published in:

Movement Disorders, 2009, v. 24, n. 6, p. 919, doi. 10.1002/mds.22407

By:

Frédéric, Mélissa Yana;
Clot, Fabienne;
Blanchard, Arnaud;
Dhaenens, Claire-Marie;
Lesca, Gaëtan;
Cif, Laura;
Dürr, Alexandra;
Vidailhet, Marie;
Sablonniere, Bernard;
Calender, Alain;
Martinez, Maria;
Molinari, Nicolas;
Brice, Alexis;
Claustres, Mireille;
Tuffery-Giraud, Sylvie;
Collod-Beroud, Gwenaëlle

Publication type:

Article

Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report.

Published in:

2024

By:

Grassini, Alberto;
Cermelli, Aurora;
Roveta, Fausto;
Zotta, Michela;
Lesca, Adriana;
Marcinnò, Andrea;
Ferrandes, Fabio;
Piella, Elisa;
Boschi, Silvia;
Lombardo, Chiara;
Brusco, Alfredo;
Gallone, Salvatore;
Rubino, Elisa;
Bruni, Amalia;
Rainero, Innocenzo

Publication type:

Correction Notice

Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.

Published in:

Neurological Sciences, 2024, v. 45, n. 6, p. 2877, doi. 10.1007/s10072-024-07453-4

By:

Grassini, Alberto;
Cermelli, Aurora;
Roveta, Fausto;
Zotta, Michela;
Lesca, Adriana;
Marcinnò, Andrea;
Ferrandes, Fabio;
Piella, Elisa;
Boschi, Silvia;
Lombardo, Chiara;
Brusco, Alfredo;
Gallone, Salvatore;
Rubino, Elisa;
Bruni, Amalia;
Rainero, Innocenzo

Publication type:

Article

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.

Published in:

Cells (2073-4409), 2023, v. 12, n. 20, p. 2469, doi. 10.3390/cells12202469

By:

Larasati, Yonika A.;
Solis, Gonzalo P.;
Koval, Alexey;
Griffiths, Silja T.;
Berentsen, Ragnhild;
Aukrust, Ingvild;
Lesca, Gaetan;
Chatron, Nicolas;
Ville, Dorothée;
Korff, Christian M.;
Katanaev, Vladimir L.

Publication type:

Article

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29280-x

By:

Absalom, Nathan L.;
Liao, Vivian W. Y.;
Johannesen, Katrine M. H.;
Gardella, Elena;
Jacobs, Julia;
Lesca, Gaetan;
Gokce-Samar, Zeynep;
Arzimanoglou, Alexis;
Zeidler, Shimriet;
Striano, Pasquale;
Meyer, Pierre;
Benkel-Herrenbrueck, Ira;
Mero, Inger-Lise;
Rummel, Jutta;
Chebib, Mary;
Møller, Rikke S.;
Ahring, Philip K.

Publication type:

Article

Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27860-x

By:

Spix, Barbara;
Butz, Elisabeth S.;
Chen, Cheng-Chang;
Rosato, Anna Scotto;
Tang, Rachel;
Jeridi, Aicha;
Kudrina, Veronika;
Plesch, Eva;
Wartenberg, Philipp;
Arlt, Elisabeth;
Briukhovetska, Daria;
Ansari, Meshal;
Günsel, Gizem Günes;
Conlon, Thomas M.;
Wyatt, Amanda;
Wetzel, Sandra;
Teupser, Daniel;
Holdt, Lesca M.;
Ectors, Fabien;
Boekhoff, Ingrid

Publication type:

Article