Risultati della ricerca - Gaëtan Lesca

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  1. 1
    Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel <i><scp>MED</scp>12</i> missense mutation [c.5922G&gt;T (p.Glu1974His)]

    Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel <i><scp>MED</scp>12</i> missense mutation [c.5922G&gt;T (p.Glu1974His)] di Habib Bouazzi, Gaëtan Lesca, Carlos Trujillo, Mohammad Khalid Alwasiyah, Arnold Munnich

    Pubblicazione 2015
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  2. 2
    Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP</scp>1A3</i> mutation

    Relapsing encephalopathy with cerebellar ataxia related to an <i><scp>ATP</scp>1A3</i> mutation di Rodolphe Dard, Cyril Mignot, Alexandra Dürr, Gaëtan Lesca, Damien Sanlaville, Emmanuel Roze, Fanny Mochel

    Pubblicazione 2015
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  3. 3
    The adult form of Niemann-Pick disease type C

    The adult form of Niemann-Pick disease type C di M. Sévin, Gaëtan Lesca, Nicole Baumann, Gilles Millat, O Lyon-Caen, M. T. Vanier, F. Sedel

    Pubblicazione 2006
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  4. 4
    View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children

    View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children di Claire Caillot, Étienne Javouhey, S. Haÿs, Evan Gouy, Pauline Monin, Gaëtan Lesca, Damien Sanlaville, Nicolas Chatron

    Pubblicazione 2025
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  5. 5
    Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations

    Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations di Nicolas Ricard, Marie Bidart, Christine Mallet, Gaëtan Lesca, Sophie Giraud, Renaud Prudent, Jean‐Jacques Feige, Sabine Bailly

    Pubblicazione 2010
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  6. 6
    Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

    Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene di Eléonore Eymard‐Pierre, Gaëtan Lesca, Sandra Dollet, Filippo M. Santorelli, M. Di Capua, Enrico Bertini, Odile Boespflug‐Tanguy

    Pubblicazione 2002
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  7. 7
    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 di Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz, Kumaran Deiva, Soňa Nevšímalová, Cyril Mignot, Gaëtan Lesca, Nathalie Bednarek, Diane Doummar, Christine Piétrement, Vincent Laugel

    Pubblicazione 2019
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  8. 8
    The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction

    The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction di Peter Kovermann, Allan Bayat, Christina Fenger, Lisette Leeuwen, Artem Borovikov, Artem Sharkov, Virginie Levrat, Gaëtan Lesca, Laurence Perrin, Jonathan Lévy, Christoph Fahlke, Rikke S. Møller, Anders A. Jensen

    Pubblicazione 2025
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  9. 9
    Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin

    Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin di Paolo Ambrosino, Alessandro Alaimo, Silvia Bartollino, Laura Manocchio, Michela De Maria, Ilaria Mosca, Carolina Gomis‐Pérez, Araitz Alberdi, Giovanni Scambia, Gaëtan Lesca, Álvaro Villarroel, Maurizio Taglialatela, Maria Virginia Soldovieri

    Pubblicazione 2015
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  10. 10
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations di Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    Pubblicazione 2015
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  11. 11
    Insights from stereoelectroencephalography in <scp><i>KCNT1</i></scp>‐related focal epilepsy suggest a multifocal and migrating epileptogenic network

    Insights from stereoelectroencephalography in <scp><i>KCNT1</i></scp>‐related focal epilepsy suggest a multifocal and migrating epileptogenic network di Zeynep Gokce‐Samar, Gaëtan Lesca, Julie Bourgeois‐Vionnet, Jean Isnard, Sébastien Boulogne, Luc Valton, Hélène Catenoix, Claire Marcon‐Mohsen, Karine Ostrowsky‐Coste, Nicolas Chatron, Marc Guénot, Sylvain Rheims, Alexandra Montavont

    Pubblicazione 2025
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  12. 12
    Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations

    Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations di Elisabetta Buscarini, H Plauchu, Guadalupe Garcia Tsao, Robert I. White, Carlo Sabbà, Franklin J. Miller, J. C. Saurin, J.P. Pelage, Gaëtan Lesca, Marie Jeanne Marion, Annalisa Perna, Marie E. Faughnan

    Pubblicazione 2006
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  13. 13
    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France

    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France di Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefèbvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie‐France Carette, Jean-François Cordier, S. Pinson, Florent Soubrier, Alain Calender, Sophie Giraud

    Pubblicazione 2004
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  14. 14
    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients

    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients di Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, S. Pinson, Marie‐Jeanne Marion, E. Babin, Brigitte Gilbert‐Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender, Sophie Giraud

    Pubblicazione 2006
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  15. 15
    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy

    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy di Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaëtan Lesca, Audrey Labalme, Dorothée Ville, Thomas Smol, Mélanie Rama, Anne Dieux‐Coëslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela

    Pubblicazione 2022
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  16. 16
    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism di Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, Édouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motté, Anne de Saint Martin, Maria‐Paola Valenti, Clotilde Boulay, Julitta de Bellescize, Pascale Kéo‐Kosal, Nadia Boutry‐Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski

    Pubblicazione 2012
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  17. 17
    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network di Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie‐France Carette, Brigitte Gilbert‐Dussardier, Cyril Goizet, J. Roume, Muriel Rabilloud, Jean‐Christophe Saurin, Vincent Cottin, Jérôme Honnorat, Florence Coulet, Sophie Giraud, Alain Calender, Cesare Danesino, Elisabetta Buscarini, Henri Plauchu

    Pubblicazione 2007
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  18. 18
    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome di Miriam Essid, Sana Karoui, M. Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, S. Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaëtan Lesca, Nicolas Chatron

    Pubblicazione 2025
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  19. 19
    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i>

    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i> di Sarra Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis Arzimanoglou, Jacques Motté, Anne de Saint Martin, Nadia Boutry‐Kryza, Robin Cloarec, Afaf Benitto, Agnès Ameil, Patrick Edery, Philippe Ryvlin, Julitta de Bellescize, Pierre Szepetowski, Damien Sanlaville

    Pubblicazione 2013
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  20. 20
    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene

    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in <i>SLC13A5</i> gene di Sara Matricardi, Paola De Liso, Elena Freri, Paola Costa, Barbara Castellotti, Stefania Magri, Cinzia Gellera, Tiziana Granata, Luciana Musante, Gaëtan Lesca, Julie Oertel, Dana Craiu, Trine Bjørg Hammer, Rikke S. Møller, Nina Barišić, Rami Abou Jamra, Tilman Polster, Federico Vigevano, Carla Marini

    Pubblicazione 2020
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