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	1.	Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. [electronic resource] by Debs, Rabab Depienne, Christel Rastetter, Agnès Bellanger, Agnès Degos, Bertrand Galanaud, Damien Keren, Boris Lyon-Caen, Olivier Brice, Alexis Sedel, Frédéric Producer: 20100212 In: Archives of neurology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. [electronic resource] by Serrano, Mercedes Rebollo, Mónica Depienne, Christel Rastetter, Agnès Fernández-Álvarez, Emilio Muchart, Jordi Martorell, Loreto Artuch, Rafael Obeso, José A Pérez-Dueñas, Belén Producer: 20130214 In: Movement disorders : official journal of the Movement Disorder Society vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish. [electronic resource] by Martin, Elodie Yanicostas, Constantin Rastetter, Agnès Alavi Naini, Seyedeh Maryam Maouedj, Alissia Kabashi, Edor Rivaud-Péchoux, Sophie Brice, Alexis Stevanin, Giovanni Soussi-Yanicostas, Nadia Producer: 20130430 In: Neurobiology of disease vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic mice. [electronic resource] by Yamada, Elizabeth S Respondek, Gesine Müssner, Stefanie de Andrade, Anderson Höllerhage, Matthias Depienne, Christel Rastetter, Agnès Tarze, Agathe Friguet, Bertrand Salama, Mohamed Champy, Pierre Oertel, Wolfgang H Höglinger, Günter U Producer: 20140407 In: Experimental neurology vol. 253 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Targeted versus untargeted omics - the CAFSA story. [electronic resource] by Del Mar Amador, Maria Colsch, Benoit Lamari, Foudil Jardel, Claude Ichou, Farid Rastetter, Agnès Sedel, Frédéric Jourdan, Fabien Frainay, Clément Wevers, Ronald A Roze, Emmanuel Depienne, Christel Junot, Christophe Mochel, Fanny Producer: 20191129 In: Journal of inherited metabolic disease vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. [electronic resource] by Murmu, Reena Prity Martin, Elodie Rastetter, Agnès Esteves, Typhaine Muriel, Marie-Paule El Hachimi, Khalid Hamid Denora, Paola Silvia Dauphin, Aurélien Fernandez, José Carlos Duyckaerts, Charles Brice, Alexis Darios, Frédéric Stevanin, Giovanni Producer: 20111007 In: Molecular and cellular neurosciences vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration. [electronic resource] by Duarte, Kévin Heide, Solveig Poëa-Guyon, Sandrine Rousseau, Véronique Depienne, Christel Rastetter, Agnès Nava, Caroline Attié-Bitach, Tania Razavi, Ferechté Martinovic, Jelena Moutard, Marie Laure Cherfils, Jacqueline Mignot, Cyril Héron, Delphine Barnier, Jean-Vianney Producer: 20210104 In: Neurobiology of disease vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. [electronic resource] by Nava, Caroline Keren, Boris Mignot, Cyril Rastetter, Agnès Chantot-Bastaraud, Sandra Faudet, Anne Fonteneau, Eric Amiet, Claire Laurent, Claudine Jacquette, Aurélia Whalen, Sandra Afenjar, Alexandra Périsse, Didier Doummar, Diane Dorison, Nathalie Leboyer, Marion Siffroi, Jean-Pierre Cohen, David Brice, Alexis Héron, Delphine Depienne, Christel Producer: 20150212 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. [electronic resource] by Klebe, Stephan Lossos, Alexander Azzedine, Hamid Mundwiller, Emeline Sheffer, Ruth Gaussen, Marion Marelli, Cecilia Nawara, Magdalena Carpentier, Wassila Meyer, Vincent Rastetter, Agnès Martin, Elodie Bouteiller, Delphine Orlando, Laurent Gyapay, Gabor El-Hachimi, Khalid H Zimmerman, Batel Gamliel, Moriya Misk, Adel Lerer, Israela Brice, Alexis Durr, Alexandra Stevanin, Giovanni Producer: 20120921 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. [electronic resource] by Mignot, Cyril Moutard, Marie-Laure Rastetter, Agnès Boutaud, Lucile Heide, Solveig Billette, Thierry Doummar, Diane Garel, Catherine Afenjar, Alexandra Jacquette, Aurélia Lacombe, Didier Verloes, Alain Bole-Feysot, Christine Nitschké, Patrick Masson, Cécile Faudet, Anne Lesne, Fabien Bienvenu, Thierry Alby, Caroline Attié-Bitach, Tania Depienne, Christel Nava, Caroline Héron, Delphine Producer: 20180131 In: Brain : a journal of neurology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. [electronic resource] by Martin, Elodie Schüle, Rebecca Smets, Katrien Rastetter, Agnès Boukhris, Amir Loureiro, José L Gonzalez, Michael A Mundwiller, Emeline Deconinck, Tine Wessner, Marc Jornea, Ludmila Oteyza, Andrés Caballero Durr, Alexandra Martin, Jean-Jacques Schöls, Ludger Mhiri, Chokri Lamari, Foudil Züchner, Stephan De Jonghe, Peter Kabashi, Edor Brice, Alexis Stevanin, Giovanni Producer: 20130404 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. [electronic resource] by Nava, Caroline Rupp, Johanna Boissel, Jean-Paul Mignot, Cyril Rastetter, Agnès Amiet, Claire Jacquette, Aurélia Dupuits, Céline Bouteiller, Delphine Keren, Boris Ruberg, Merle Faudet, Anne Doummar, Diane Philippe, Anne Périsse, Didier Laurent, Claudine Lebrun, Nicolas Guillemot, Vincent Chelly, Jamel Cohen, David Héron, Delphine Brice, Alexis Closs, Ellen I Depienne, Christel Producer: 20161005 In: Amino acids vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. [electronic resource] by Marsh, Ashley P L Edwards, Timothy J Galea, Charles Cooper, Helen M Engle, Elizabeth C Jamuar, Saumya S Méneret, Aurélie Moutard, Marie-Laure Nava, Caroline Rastetter, Agnès Robinson, Gail Rouleau, Guy Roze, Emmanuel Spencer-Smith, Megan Trouillard, Oriane Billette de Villemeur, Thierry Walsh, Christopher A Yu, Timothy W Heron, Delphine Sherr, Elliott H Richards, Linda J Depienne, Christel Leventer, Richard J Lockhart, Paul J Producer: 20180717 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	De novo mutations in HCN1 cause early infantile epileptic encephalopathy. [electronic resource] by Nava, Caroline Dalle, Carine Rastetter, Agnès Striano, Pasquale de Kovel, Carolien G F Nabbout, Rima Cancès, Claude Ville, Dorothée Brilstra, Eva H Gobbi, Giuseppe Raffo, Emmanuel Bouteiller, Delphine Marie, Yannick Trouillard, Oriane Robbiano, Angela Keren, Boris Agher, Dahbia Roze, Emmanuel Lesage, Suzanne Nicolas, Aude Brice, Alexis Baulac, Michel Vogt, Cornelia El Hajj, Nady Schneider, Eberhard Suls, Arvid Weckhuysen, Sarah Gormley, Padhraig Lehesjoki, Anna-Elina De Jonghe, Peter Helbig, Ingo Baulac, Stéphanie Zara, Federico Koeleman, Bobby P C Haaf, Thomas LeGuern, Eric Depienne, Christel Producer: 20140808 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. [electronic resource] by Mignot, Cyril von Stülpnagel, Celina Nava, Caroline Ville, Dorothée Sanlaville, Damien Lesca, Gaetan Rastetter, Agnès Gachet, Benoit Marie, Yannick Korenke, G Christoph Borggraefe, Ingo Hoffmann-Zacharska, Dorota Szczepanik, Elżbieta Rudzka-Dybała, Mariola Yiş, Uluç Çağlayan, Hande Isapof, Arnaud Marey, Isabelle Panagiotakaki, Eleni Korff, Christian Rossier, Eva Riess, Angelika Beck-Woedl, Stefanie Rauch, Anita Zweier, Christiane Hoyer, Juliane Reis, André Mironov, Mikhail Bobylova, Maria Mukhin, Konstantin Hernandez-Hernandez, Laura Maher, Bridget Sisodiya, Sanjay Kuhn, Marius Glaeser, Dieter Weckhuysen, Sarah Myers, Candace T Mefford, Heather C Hörtnagel, Konstanze Biskup, Saskia Lemke, Johannes R Héron, Delphine Kluger, Gerhard Depienne, Christel Producer: 20171030 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. [electronic resource] by Marsh, Ashley P L Heron, Delphine Edwards, Timothy J Quartier, Angélique Galea, Charles Nava, Caroline Rastetter, Agnès Moutard, Marie-Laure Anderson, Vicki Bitoun, Pierre Bunt, Jens Faudet, Anne Garel, Catherine Gillies, Greta Gobius, Ilan Guegan, Justine Heide, Solveig Keren, Boris Lesne, Fabien Lukic, Vesna Mandelstam, Simone A McGillivray, George McIlroy, Alissandra Méneret, Aurélie Mignot, Cyril Morcom, Laura R Odent, Sylvie Paolino, Annalisa Pope, Kate Riant, Florence Robinson, Gail A Spencer-Smith, Megan Srour, Myriam Stephenson, Sarah E M Tankard, Rick Trouillard, Oriane Welniarz, Quentin Wood, Amanda Brice, Alexis Rouleau, Guy Attié-Bitach, Tania Delatycki, Martin B Mandel, Jean-Louis Amor, David J Roze, Emmanuel Piton, Amélie Bahlo, Melanie Billette de Villemeur, Thierry Sherr, Elliott H Leventer, Richard J Richards, Linda J Lockhart, Paul J Depienne, Christel Producer: 20170905 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. [electronic resource] by Leblond, Claire S Nava, Caroline Polge, Anne Gauthier, Julie Huguet, Guillaume Lumbroso, Serge Giuliano, Fabienne Stordeur, Coline Depienne, Christel Mouzat, Kevin Pinto, Dalila Howe, Jennifer Lemière, Nathalie Durand, Christelle M Guibert, Jessica Ey, Elodie Toro, Roberto Peyre, Hugo Mathieu, Alexandre Amsellem, Frédérique Rastam, Maria Gillberg, I Carina Rappold, Gudrun A Holt, Richard Monaco, Anthony P Maestrini, Elena Galan, Pilar Heron, Delphine Jacquette, Aurélia Afenjar, Alexandra Rastetter, Agnès Brice, Alexis Devillard, Françoise Assouline, Brigitte Laffargue, Fanny Lespinasse, James Chiesa, Jean Rivier, François Bonneau, Dominique Regnault, Beatrice Zelenika, Diana Delepine, Marc Lathrop, Mark Sanlaville, Damien Schluth-Bolard, Caroline Edery, Patrick Perrin, Laurence Tabet, Anne Claude Schmeisser, Michael J Boeckers, Tobias M Coleman, Mary Sato, Daisuke Szatmari, Peter Scherer, Stephen W Rouleau, Guy A Betancur, Catalina Leboyer, Marion Gillberg, Christopher Delorme, Richard Bourgeron, Thomas Producer: 20151106 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. [electronic resource] by Depienne, Christel Nava, Caroline Keren, Boris Heide, Solveig Rastetter, Agnès Passemard, Sandrine Chantot-Bastaraud, Sandra Moutard, Marie-Laure Agrawal, Pankaj B VanNoy, Grace Stoler, Joan M Amor, David J Billette de Villemeur, Thierry Doummar, Diane Alby, Caroline Cormier-Daire, Valérie Garel, Catherine Marzin, Pauline Scheidecker, Sophie de Saint-Martin, Anne Hirsch, Edouard Korff, Christian Bottani, Armand Faivre, Laurence Verloes, Alain Orzechowski, Christine Burglen, Lydie Leheup, Bruno Roume, Joelle Andrieux, Joris Sheth, Frenny Datar, Chaitanya Parker, Michael J Pasquier, Laurent Odent, Sylvie Naudion, Sophie Delrue, Marie-Ange Le Caignec, Cédric Vincent, Marie Isidor, Bertrand Renaldo, Florence Stewart, Fiona Toutain, Annick Koehler, Udo Häckl, Birgit von Stülpnagel, Celina Kluger, Gerhard Møller, Rikke S Pal, Deb Jonson, Tord Soller, Maria Verbeek, Nienke E van Haelst, Mieke M de Kovel, Carolien Koeleman, Bobby Monroe, Glen van Haaften, Gijs Attié-Bitach, Tania Boutaud, Lucile Héron, Delphine Mignot, Cyril Producer: 20170620 In: Human genetics vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. [electronic resource] by Marini, Carla Porro, Alessandro Rastetter, Agnès Dalle, Carine Rivolta, Ilaria Bauer, Daniel Oegema, Renske Nava, Caroline Parrini, Elena Mei, Davide Mercer, Catherine Dhamija, Radhika Chambers, Chelsea Coubes, Christine Thévenon, Julien Kuentz, Paul Julia, Sophie Pasquier, Laurent Dubourg, Christèle Carré, Wilfrid Rosati, Anna Melani, Federico Pisano, Tiziana Giardino, Maria Innes, A Micheil Alembik, Yves Scheidecker, Sophie Santos, Manuela Figueiroa, Sonia Garrido, Cristina Fusco, Carlo Frattini, Daniele Spagnoli, Carlotta Binda, Anna Granata, Tiziana Ragona, Francesca Freri, Elena Franceschetti, Silvana Canafoglia, Laura Castellotti, Barbara Gellera, Cinzia Milanesi, Raffaella Mancardi, Maria Margherita Clark, Damien R Kok, Fernando Helbig, Katherine L Ichikawa, Shoji Sadler, Laurie Neupauerová, Jana Laššuthova, Petra Šterbová, Katalin Laridon, Annick Brilstra, Eva Koeleman, Bobby Lemke, Johannes R Zara, Federico Striano, Pasquale Soblet, Julie Smits, Guillaume Deconinck, Nicolas Barbuti, Andrea DiFrancesco, Dario LeGuern, Eric Guerrini, Renzo Santoro, Bina Hamacher, Kay Thiel, Gerhard Moroni, Anna DiFrancesco, Jacopo C Depienne, Christel Producer: 20190715 In: Brain : a journal of neurology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)