Works by Depienne, Christel

Results: 73

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111

By:

Hengel, Holger;
Hannan, Shabab B;
Reich, Selina;
Beijer, Danique;
Roller, Johanna;
Gilsbach, Bernd K;
Gloeckner, Christian Johannes;
Greene, Daniel;
Timmann, Dagmar;
Depienne, Christel;
Mumford, Andrew;
O'Driscoll, Mary;
Nemeth, Andrea H;
Lundberg, Julie;
Rodan, Lance H;
Bruel, Ange-Line;
Delanne, Julian;
Deconinck, Tine;
Baets, Jonathan;
Gan-Or, Ziv

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

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1118, doi. 10.1002/humu.21542

By:

Goizet, Cyril;
Depienne, Christel;
Benard, Giovanni;
Boukhris, Amir;
Mundwiller, Emeline;
Solé, Guilhem;
Coupry, Isabelle;
Pilliod, Julie;
Martin-Négrier, Marie-Laure;
Fedirko, Estelle;
Forlani, Sylvie;
Cazeneuve, Cécile;
Hannequin, Didier;
Charles, Perrine;
Feki, Imed;
Pinel, Jean-François;
Ouvrard-Hernandez, Anne-Marie;
Lyonnet, Stanislas;
Ollagnon-Roman, Elisabeth;
Yaouanq, Jacqueline

Publication type:

Article

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373

By:

Depienne, Christel;
Trouillard, Oriane;
Bouteiller, Delphine;
Gourfinkel-An, Isabelle;
Poirier, Karine;
Rivier, François;
Berquin, Patrick;
Nabbout, Rima;
Chaigne, Denys;
Steschenko, Dominique;
Gautier, Agnès;
Hoffman-Zacharska, Dorota;
Lannuzel, Annie;
Lackmy-Port-Lis, Marilyn;
Maurey, Hélène;
Dusser, Anne;
Bru, Marie;
Gilbert-Dussardier, Brigitte;
Roubertie, Agathe;
Kaminska, Anna

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

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

Published in:

Human Mutation, 2009, v. 30, n. 2, p. E376, doi. 10.1002/humu.20920

By:

Goizet, Cyril;
Boukhris, Amir;
Mundwiller, Emeline;
Tallaksen, Chantal;
Forlani, Sylvie;
Toutain, Annick;
Carriere, Nathalie;
Paquis, Véronique;
Depienne, Christel;
Durr, Alexandra;
Stevanin, Giovanni;
Brice, Alexis

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

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.81032

By:

Burglen, Lydie;
Van Hoeymissen, Evelien;
Qebibo, Leila;
Barth, Magalie;
Belnap, Newell;
Boschann, Felix;
Depienne, Christel;
De Clercq, Katrien;
Douglas, Andrew G. L.;
Fitzgerald, Mark P.;
Foulds, Nicola;
Garel, Catherine;
Helbig, Ingo;
Held, Katharina;
Horn, Denise;
Janssen, Annelies;
Kaindl, Angela M.;
Narayanan, Vinodh;
Prager, Christina;
Rupin-Mas, Mailys

Publication type:

Article

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Published in:

Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6

By:

Dufke, Claudia;
Schlipf, Nina;
Schüle, Rebecca;
Bonin, Michael;
Auer-Grumbach, Michaela;
Stevanin, Giovanni;
Depienne, Christel;
Kassubek, Jan;
Klebe, Stephan;
Klimpe, Sven;
Klopstock, Thomas;
Otto, Susanne;
Poths, Sven;
Seibel, Andrea;
Stolze, Henning;
Gal, Andreas;
Schöls, Ludger;
Bauer, Peter

Publication type:

Article

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

Published in:

2010

By:

Keren, Boris;
Jacquette, Aurélia;
Depienne, Christel;
Leite, Patricia;
Durr, Alexandra;
Carpentier, Wassila;
Benyahia, Baya;
Ponsot, Gerard;
Soubrier, Florent;
Brice, Alexis;
Héron, Delphine

Publication type:

Letter

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.

Published in:

2008

By:

Saint-Martin, Cécile;
Bouteiller, Delphine;
Stevanin, Giovanni;
Popescu, Cyprian;
Charon, Céline;
Ruberg, Merle;
Baulac, Stéphanie;
LeGuern, Eric;
Labauge, Pierre;
Depienne, Christel

Publication type:

Letter

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.

Published in:

2007

By:

Depienne, Christel;
Fedirko, Estelle;
Faucheux, Jean-Marc;
Forlani, Sylvie;
Bricka, Bernard;
Goizet, Cyril;
Lesourd, Sylvie;
Stevanin, Giovanni;
Ruberg, Merle;
Durr, Alexandra;
Brice, Alexis

Publication type:

Letter

NIPA1 ( SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Published in:

2007

By:

Klebe, Stephan;
Lacour, Arnaud;
Durr, Alexandra;
Stojkovic, Tanya;
Depienne, Christel;
Forlani, Sylvie;
Poea-Guyon, Sandrine;
Vuillaume, Isabelle;
Sablonniere, Bernard;
Vermersch, Patrick;
Brice, Alexis;
Stevanin, Giovanni

Publication type:

Letter

GABA<sub>A</sub> Receptor γ2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 51, p. 14108, doi. 10.1523/JNEUROSCI.2618-07.2007

By:

Eugène, Emmanuel;
Depienne, Christel;
Baulac, Stèphanie;
Baulac, Michel;
Fritschy, Jean Marc;
Le Guern, Eric;
Miles, Richard;
Poncer, Jean Christophe

Publication type:

Article

Annonacin, a Natural Mitochondrial Complex I Inhibitor, Causes Tau Pathology in Cultured Neurons.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 29, p. 7827, doi. 10.1523/JNEUROSCI.1644-07.2007

By:

Escobar-Khondiker, Myriam;
Höllerhage, Matthias;
Muriel, Marie-Paule;
Champy, Pierre;
Bach, Antoine;
Depienne, Christel;
Respondek, Gesine;
Yamada, Elizabeth S.;
Lannuzel, Annie;
Yagi, Takao;
Hirsch, Etienne C.;
Oertel, Wolfgang H.;
Jacob, Ralf;
Michel, Patrick P.;
Ruberg, Merle;
Höglinger, Günter U.

Publication type:

Article

A mutation update for the PCDH19 gene causing early‐onset epilepsy in females with an unusual expression pattern.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 243, doi. 10.1002/humu.23701

By:

Niazi, Rojeen;
Fanning, Elizabeth A.;
Depienne, Christel;
Sarmady, Mahdi;
Abou Tayoun, Ahmad N.

Publication type:

Article

Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Published in:

2023

By:

Depienne, Christel;
Ciura, Sorana;
Trouillard, Oriane;
Bouteiller, Delphine;
Leitão, Elsa;
Nava, Caroline;
Keren, Boris;
Marie, Yannick;
Guegan, Justine;
Forlani, Sylvie;
Brice, Alexis;
Anheim, Mathieu;
Agid, Yves;
Krack, Paul;
Damier, Philippe;
Viallet, François;
Houeto, Jean-Luc;
Durif, Franck;
Vidailhet, Marie;
Worbe, Yulia

Publication type:

Correction Notice

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Published in:

Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.693

By:

Depienne, Christel;
Ciura, Sorana;
Trouillard, Oriane;
Bouteiller, Delphine;
Leitão, Elsa;
Nava, Caroline;
Keren, Boris;
Marie, Yannick;
Guegan, Justine;
Forlani, Sylvie;
Brice, Alexis;
Anheim, Mathieu;
Agid, Yves;
Krack, Paul;
Damier, Philippe;
Viallet, François;
Houeto, Jean-Luc;
Durif, Franck;
Vidailhet, Marie;
Worbe, Yulia

Publication type:

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

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Published in:

Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0803-0

By:

Kolc, Kristy L.;
Sadleir, Lynette G.;
Depienne, Christel;
Marini, Carla;
Scheffer, Ingrid E.;
Møller, Rikke S.;
Trivisano, Marina;
Specchio, Nicola;
Pham, Duyen;
Kumar, Raman;
Roberts, Rachel;
Gecz, Jozef

Publication type:

Article

Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 22, p. 4996, doi. 10.1093/hmg/ddw328

By:

Atsem, Stefanie;
Reichenbach, Juliane;
Potabattula, Ramya;
Dittrich, Marcus;
Nava, Caroline;
Depienne, Christel;
Böhm, Lena;
Rost, Simone;
Hahn, Thomas;
Schorsch, Martin;
Haaf, Thomas;
El Hajj, Nady

Publication type:

Article

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5250, doi. 10.1093/hmg/ddv245

By:

Chuan Tan;
Shard, Chloe;
Ranieri, Enzo;
Hynes, Kim;
Pham, Duyen H.;
Leach, Damian;
Buchanan, Grant;
Corbett, Mark;
Shoubridge, Cheryl;
Kumar, Raman;
Douglas, Evelyn;
Nguyen, Lam S.;
Mcmahon, Jacinta;
Sadleir, Lynette;
Specchio, Nicola;
Marini, Carla;
Guerrini, Renzo;
Moller, Rikke S.;
Depienne, Christel;
Haan, Eric

Publication type:

Article

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Published in:

Skeletal Muscle, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13395-024-00348-0

By:

Chiu, Celine;
Küchler, Alma;
Depienne, Christel;
Preuße, Corinna;
Marina, Adela Della;
Reis, Andre;
Kaiser, Frank J.;
Nolte, Kay;
Hentschel, Andreas;
Schara-Schmidt, Ulrike;
Kölbel, Heike;
Roos, Andreas

Publication type:

Article

Electro‐Clinical Features and Functional Connectivity Analysis in SYN1‐Related Epilepsy.

Published in:

Annals of Neurology, 2025, v. 97, n. 1, p. 34, doi. 10.1002/ana.27063

By:

Moya Quiros, Vincent;
Adham, Ahmed;
Convers, Philippe;
Lesca, Gaetan;
Mauguiere, François;
Soulier, Hugo;
Arzimanoglou, Alexis;
Bayat, Allan;
Braakman, Hilde;
Camdessanche, Jean‐Philippe;
Casenave, Philippe;
Chaton, Laurence;
Chaix, Yves;
Chochoi, Maxime;
Depienne, Christel;
Desportes, Vincent;
De Ridder, Jessie;
Dinkelacker, Vera;
Gardella, Elena;
Kluger, Gerhard J.

Publication type:

Article

Genetic association signal near NTN4 in Tourette syndrome.

Published in:

2014

By:

Paschou, Peristera;
Yu, Dongmei;
Gerber, Gloria;
Evans, Patrick;
Tsetsos, Fotis;
Davis, Lea K;
Karagiannidis, Iordanis;
Chaponis, Jonathan;
Gamazon, Eric;
Mueller-Vahl, Kirsten;
Stuhrmann, Manfred;
Schloegelhofer, Monika;
Stamenkovic, Mara;
Hebebrand, Johannes;
Noethen, Markus;
Nagy, Peter;
Barta, Csaba;
Tarnok, Zsanett;
Rizzo, Renata;
Depienne, Christel

Publication type:

journal article

Genetic association signal near NTN 4 in Tourette syndrome.

Published in:

Annals of Neurology, 2014, v. 76, n. 2, p. 310, doi. 10.1002/ana.24215

By:

Paschou, Peristera;
Yu, Dongmei;
Gerber, Gloria;
Evans, Patrick;
Tsetsos, Fotis;
Davis, Lea K.;
Karagiannidis, Iordanis;
Chaponis, Jonathan;
Gamazon, Eric;
Mueller‐Vahl, Kirsten;
Stuhrmann, Manfred;
Schloegelhofer, Monika;
Stamenkovic, Mara;
Hebebrand, Johannes;
Noethen, Markus;
Nagy, Peter;
Barta, Csaba;
Tarnok, Zsanett;
Rizzo, Renata;
Depienne, Christel

Publication type:

Article

Novel Variants of SOX4 in Patients with Intellectual Disability.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3519, doi. 10.3390/ijms24043519

By:

Grosse, Martin;
Kuechler, Alma;
Dabir, Tabib;
Spranger, Stephanie;
Beck-Wödl, Stefanie;
Bertrand, Miriam;
Haack, Tobias B.;
Grasemann, Corinna;
Manka, Eva;
Depienne, Christel;
Kaiser, Frank J.

Publication type:

Article

End-truncated CST3 causes severe psychiatric-like symptoms associated with migraine and progressive young-onset dementia.

Published in:

Journal of Neurology, 2024, v. 271, n. 11, p. 7316, doi. 10.1007/s00415-024-12691-9

By:

Baille, Guillaume;
Morel, Hélène;
Schröder, Christopher;
Depienne, Christel;
Bonnan, Mickael;
Tournier-Lasserve, Elisabeth;
Coste, Thibault

Publication type:

Article

Dalfampridine in hereditary spastic paraplegia: a prospective, open study.

Published in:

Journal of Neurology, 2015, v. 262, n. 5, p. 1285, doi. 10.1007/s00415-015-7707-6

By:

Béreau, Matthieu;
Anheim, Mathieu;
Chanson, Jean-Baptiste;
Tio, Grégory;
Echaniz-Laguna, Andoni;
Depienne, Christel;
Collongues, Nicolas;
Sèze, Jérôme

Publication type:

Article

Congenital mirror movements: no mutation in DNAL4 in 17 index cases.

Published in:

2014

By:

Méneret, Aurélie;
Trouillard, Oriane;
Vidailhet, Marie;
Depienne, Christel;
Roze, Emmanuel

Publication type:

Letter

Congenital mirror movements: a clue to understanding bimanual motor control.

Published in:

Journal of Neurology, 2011, v. 258, n. 11, p. 1911, doi. 10.1007/s00415-011-6107-9

By:

Galléa, Cécile;
Popa, Traian;
Billot, Ségolène;
Méneret, Aurélie;
Depienne, Christel;
Roze, Emmanuel

Publication type:

Article

Targeted versus untargeted omics — the CAFSA story.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 447, doi. 10.1007/s10545-017-0134-3

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

Publication type:

Article

Mental deficiency in three families with SPG4 spastic paraplegia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 97, doi. 10.1038/sj.ejhg.5201922

By:

Ribaï, Pascale;
Depienne, Christel;
Fedirko, Estelle;
Jothy, Anne-Catherine;
Viveweger, Caterine;
Hahn-Barma, Valérie;
Brice, Alexis;
Durr, Alexandra

Publication type:

Article

Pitfalls in genetic testing: the story of missed SCN1A mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 457, doi. 10.1002/mgg3.217

By:

Djémié, Tania;
Weckhuysen, Sarah;
Spiczak, Sarah;
Carvill, Gemma L.;
Jaehn, Johanna;
Anttonen, Anna‐Kaisa;
Brilstra, Eva;
Caglayan, Hande S.;
Kovel, Carolien G.;
Depienne, Christel;
Gaily, Eija;
Gennaro, Elena;
Giraldez, Beatriz G.;
Gormley, Padhraig;
Guerrero‐López, Rosa;
Guerrini, Renzo;
Hämäläinen, Eija;
Hartmann, Corinna;
Hernandez‐Hernandez, Laura;
Hjalgrim, Helle

Publication type:

Article

Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene.

Published in:

JAMA Neurology, 2013, v. 70, n. 7, p. 875, doi. 10.1001/jamaneurol.2013.698

By:

Guerreiro, Rita;
Kara, Eleanna;
Le Ber, Isabelle;
Bras, Jose;
Rohrer, Jonathan D.;
Taipa, Ricardo;
Lashley, Tammaryn;
Dupuits, Céline;
Gurunlian, Nicole;
Mochel, Fanny;
Warren, Jason D.;
Hannequin, Didier;
Sedel, Frédéric;
Depienne, Christel;
Camuzat, Agnès;
Golfier, Véronique;
Du Boisguéheneuc, Foucaud;
Schottlaender, Lucia;
Fox, Nick C.;
Beck, Jonathan

Publication type:

Article

Non-coding repeat expansions associated with familial adult myoclonic epilepsy: a new paradigm of gene-independent monogenic disorders.

Published in:

Neuroforum, 2022, v. 28, n. 4, p. 223, doi. 10.1515/nf-2022-0024

By:

Kühnel, Theresa;
Depienne, Christel

Publication type:

Article

Lessons learned from a muscle study in nail-patella syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03911-0

By:

Paul, Luisa;
Schänzer, Anne;
Depienne, Christel;
Hentschel, Andreas;
Kohlschmidt, Nicolai;
Schara-Schmidt, Ulrike;
Nelke, Christopher Jannik;
Roos, Andreas;
Kölbel, Heike

Publication type:

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

A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.

Published in:

Epilepsia Open, 2023, v. 8, n. 2, p. 659, doi. 10.1002/epi4.12702

By:

Maroilley, Tatiana;
Tsai, Meng‐Han;
Mascarenhas, Rumika;
Diao, Catherine;
Khanbabaei, Maryam;
Kaya, Sabine;
Depienne, Christel;
Tarailo‐Graovac, Maja;
Klein, Karl Martin

Publication type:

Article

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.

Published in:

2020

By:

Spencer‐Smith, Megan;
Knight, Jacquelyn L;
Lacaze, Emmanuelle;
Depienne, Christel;
Lockhart, Paul J;
Richards, Linda J;
Heron, Delphine;
Leventer, Richard J;
Robinson, Gail A;
Ceslis, Amelia;
Gibson, Emily;
Giraudat, Kim;
McIlroy, Alissandra;
Paul, Lynn K;
Siffredi, Vanessa;
Bahlo, Melanie;
Barker, Megan;
Blondiaux, Eleonore;
Edwards, Timothy J;
Garel, Catherine

Publication type:

journal article

Mutations in the netrin-1 gene cause congenital mirror movements.

Published in:

Journal of Clinical Investigation, 2017, v. 127, n. 11, p. 3923, doi. 10.1172/JCI95442

By:

Méneret, Aurélie;
Franz, Elizabeth A.;
Trouillard, Oriane;
Oliver, Thomas C.;
Zagar, Yvrick;
Robertson, Stephen P.;
Welniarz, Quentin;
Gardner, R. J. MacKinlay;
Gallea, Cécile;
Srour, Myriam;
Depienne, Christel;
Jasoni, Christine L.;
Dubacq, Caroline;
Riant, Florence;
Lamy, Jean-Charles;
Morel, Marie-Pierre;
Guérois, Raphael;
Andreani, Jessica;
Fouquet, Coralie;
Doulazmi, Mohamed

Publication type:

Article

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Published in:

Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5

By:

Bramswig, Nuria C.;
Bertoli-Avella, Aida M.;
Albrecht, Beate;
Al Aqeel, Aida I.;
Alhashem, Amal;
Al-Sannaa, Nouriya;
Bah, Maissa;
Bröhl, Katharina;
Depienne, Christel;
Dorison, Nathalie;
Doummar, Diane;
Ehmke, Nadja;
Elbendary, Hasnaa M.;
Gorokhova, Svetlana;
Héron, Delphine;
Horn, Denise;
James, Kiely;
Keren, Boris;
Kuechler, Alma;
Ismail, Samira

Publication type:

Article

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Published in:

Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0

By:

Depienne, Christel;
Nava, Caroline;
Keren, Boris;
Heide, Solveig;
Passemard, Sandrine;
Moutard, Marie-Laure;
Amor, David;
Billette de Villemeur, Thierry;
Doummar, Diane;
Alby, Caroline;
Cormier-Daire, Valérie;
Saint-Martin, Anne;
Hirsch, Edouard;
Faivre, Laurence;
Burglen, Lydie;
Odent, Sylvie;
Delrue, Marie-Ange;
Caignec, Cédric;
Isidor, Bertrand;
Renaldo, Florence

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

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Published in:

Human Genetics, 2007, v. 122, n. 3/4, p. 261, doi. 10.1007/s00439-007-0396-1

By:

Hanein, Sylvain;
Dürr, Alexandra;
Ribai, Pascale;
Forlani, Sylvie;
Leutenegger, Anne-Louise;
Nelson, Isabelle;
Babron, Marie-Claude;
Elleuch, Nizar;
Depienne, Christel;
Charon, Céline;
Brice, Alexis;
Stevanin, Giovanni

Publication type:

Article

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1472543

By:

Lucia-Campos, Cristina;
Parenti, Ilaria;
Latorre-Pellicer, Ana;
Gil-Salvador, Marta;
Bestetti, Ilaria;
Finelli, Palma;
Larizza, Lidia;
Arnedo, María;
Ayerza-Casas, Ariadna;
Del Rincón, Julia;
Trujillano, Laura;
Morte, Beatriz;
Pérez-Jurado, Luis A.;
Lapunzina, Pablo;
Leitão, Elsa;
Beygo, Jasmin;
Lich, Christina;
Kilpert, Fabian;
Kaya, Sabine;
Depienne, Christel

Publication type:

Article

Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882

By:

Gallagher, Declan;
Pérez‐Palma, Eduardo;
Bruenger, Tobias;
Ghanty, Ismael;
Brilstra, Eva;
Ceulemans, Berten;
Chemaly, Nicole;
de Lange, Iris;
Depienne, Christel;
Guerrini, Renzo;
Mei, Davide;
Møller, Rikke S.;
Nabbout, Rima;
Regan, Brigid M.;
Schneider, Amy L.;
Scheffer, Ingrid E.;
Schoonjans, An‐Sofie;
Symonds, Joseph D.;
Weckhuysen, Sarah;
Zuberi, Sameer M.

Publication type:

Article

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Published in:

Epilepsia (Series 4), 2023, v. 64, p. S14, doi. 10.1111/epi.17610

By:

Corbett, Mark A.;
Depienne, Christel;
Veneziano, Liana;
Klein, Karl Martin;
Brancati, Francesco;
Guerrini, Renzo;
Zara, Federico;
Tsuji, Shoji;
Gecz, Jozef

Publication type:

Article