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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
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
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
By:
- Trinh, Joanne;
- Lüth, Theresa;
- Schaake, Susen;
- Laabs, Björn-Hergen;
- Schlüter, Kathleen;
- Laβ, Joshua;
- Pozojevic, Jelena;
- Tse, Ronnie;
- König, Inke;
- Jamora, Roland Dominic;
- Rosales, Raymond L;
- Brüggemann, Norbert;
- Saranza, Gerard;
- Diesta, Cid Czarina E;
- Kaiser, Frank J;
- Depienne, Christel;
- Pearson, Christopher E;
- Westenberger, Ana;
- Klein, Christine
Publication type:
Article
Pentameric repeat expansions: cortical myoclonus or cortical tremor?
Published in:
2020
By:
- Rootselaar, Anne-Fleur van;
- Maagdenberg, Arn M J M van den;
- Depienne, Christel;
- Tijssen, Marina A J;
- van Rootselaar, Anne-Fleur;
- van den Maagdenberg, Arn M J M
Publication type:
Letter
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Published in:
2018
By:
- Parodi, Livia;
- Fenu, Silvia;
- Barbier, Mathieu;
- Banneau, Guillaume;
- Duyckaerts, Charles;
- Montcel, Sophie Tezenas du;
- Monin, Marie-Lorraine;
- Said, Samia Ait;
- Guegan, Justine;
- Tallaksen, Chantal M E;
- Tezenas du Montcel, Sophie;
- Ait Said, Samia;
- Sablonniere, Bertrand;
- Brice, Alexis;
- Stevanin, Giovanni;
- Depienne, Christel;
- Durr, Alexandra;
- SPATAX network
Publication type:
journal article
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Published in:
2018
By:
- Newton, Timothy;
- Allison, Rachel;
- Edgar, James R.;
- Lumb, Jennifer H.;
- Rodger, Catherine E.;
- Manna, Paul T.;
- Rizo, Tania;
- Kohl, Zacharias;
- Nygren, Anders O. H.;
- Arning, Larissa;
- Schüle, Rebecca;
- Depienne, Christel;
- Goldberg, Lisa;
- Frahm, Christiane;
- Stevanin, Giovanni;
- Durr, Alexandra;
- Schöls, Ludger;
- Winner, Beate;
- Beetz, Christian;
- Reid, Evan
Publication type:
journal article
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Published in:
2016
By:
- Hardies, Katia;
- Yiying Cai;
- Jardel, Claude;
- Jansen, Anna C.;
- Mian Cao;
- May, Patrick;
- Djémié, Tania;
- Le Camus, Caroline Hachon;
- Keymolen, Kathelijn;
- Deconinck, Tine;
- Bhambhani, Vikas;
- Long, Catherine;
- Sajan, Samin A.;
- Helbig, Katherine L.;
- Suls, Arvid;
- Balling, Rudi;
- Helbig, Ingo;
- De Jonghe, Peter;
- Depienne, Christel;
- De Camilli, Pietro
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
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
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
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3170, doi. 10.1002/ajmg.a.34334
By:
- Piard, Juliette;
- Depienne, Christel;
- Keren, Boris;
- Fédirko, Estelle;
- Trouillard, Oriane;
- Charles, Perrine;
- Heron, Delphine
Publication type:
Article
Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders.
Published in:
PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0088600
By:
- Huguet, Guillaume;
- Nava, Caroline;
- Lemière, Nathalie;
- Patin, Etienne;
- Laval, Guillaume;
- Ey, Elodie;
- Brice, Alexis;
- Leboyer, Marion;
- Szepetowski, Pierre;
- Gillberg, Christopher;
- Depienne, Christel;
- Delorme, Richard;
- Bourgeron, Thomas
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
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
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
Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up.
Published in:
Medizinische Genetik, 2021, v. 33, n. 4, p. 311, doi. 10.1515/medgen-2021-2100
By:
- Peters, Lorenz;
- Depienne, Christel;
- Klebe, Stephan
Publication type:
Article
GC-rich repeat expansions: associated disorders and mechanisms.
Published in:
Medizinische Genetik, 2021, v. 33, n. 4, p. 325, doi. 10.1515/medgen-2021-2099
By:
- Schröder, Christopher;
- Horsthemke, Bernhard;
- Depienne, Christel
Publication type:
Article
Tandem repeat expansions: the good, the bad and the hidden.
Published in:
2021
By:
- Depienne, Christel
Publication type:
Editorial
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing.
Published in:
Medizinische Genetik, 2021, v. 33, n. 4, p. 301, doi. 10.1515/medgen-2021-2098
By:
- Thieme, Andreas;
- Depienne, Christel;
- Timmann, Dagmar
Publication type:
Article
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
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
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
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
RAD51 deficiency disrupts the corticospinal lateralization of motor control.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3333, doi. 10.1093/brain/awt258
By:
- Gallea, Cécile;
- Popa, Traian;
- Hubsch, Cécile;
- Valabregue, Romain;
- Brochard, Vanessa;
- Kundu, Prantik;
- Schmitt, Benoît;
- Bardinet, Eric;
- Bertasi, Eric;
- Flamand-Roze, Constance;
- Alexandre, Nicolas;
- Delmaire, Christine;
- Méneret, Aurélie;
- Depienne, Christel;
- Poupon, Cyril;
- Hertz-Pannier, Lucie;
- Cincotta, Massimo;
- Vidailhet, Marie;
- Lehericy, Stéphane;
- Meunier, Sabine
Publication type:
Article
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2980, doi. 10.1093/brain/aws240
By:
- Klebe, Stephan;
- Depienne, Christel;
- Gerber, Sylvie;
- Challe, Georges;
- Anheim, Mathieu;
- Charles, Perrine;
- Fedirko, Estelle;
- Lejeune, Elodie;
- Cottineau, Julien;
- Brusco, Alfredo;
- Dollfus, Hélène;
- Chinnery, Patrick F.;
- Mancini, Cecilia;
- Ferrer, Xavier;
- Sole, Guilhem;
- Destée, Alain;
- Mayer, Jean-Michel;
- Fontaine, Bertrand;
- Seze, Jérôme de;
- Clanet, Michel
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
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.
Published in:
Epilepsia (Series 4), 2023, v. 64, p. S31, doi. 10.1111/epi.17504
By:
- Depienne, Christel;
- van den Maagdenberg, Arn M. J. M.;
- Kühnel, Theresa;
- Ishiura, Hiroyuki;
- Corbett, Mark A.;
- Tsuji, Shoji
Publication type:
Article
Lessons learned from 40 novel PIGA patients and a review of the literature.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 6, p. 1142, doi. 10.1111/epi.16545
By:
- Bayat, Allan;
- Knaus, Alexej;
- Pendziwiat, Manuela;
- Afenjar, Alexandra;
- Barakat, Tahsin Stefan;
- Bosch, Friedrich;
- Callewaert, Bert;
- Calvas, Patrick;
- Ceulemans, Berten;
- Chassaing, Nicolas;
- Depienne, Christel;
- Endziniene, Milda;
- Ferreira, Carlos R.;
- Moura de Souza, Carolina Fischinger;
- Freihuber, Cécile;
- Ganesan, Shiva;
- Gataullina, Svetlana;
- Guerrini, Renzo;
- Guerrot, Anne‐Marie;
- Hansen, Lars
Publication type:
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
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.
Published in:
Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
By:
- Kraatari‐Tiri, Minna;
- Soikkonen, Leila;
- Myllykoski, Matti;
- Jamshidi, Yalda;
- Karimiani, Ehsan G.;
- Komulainen‐Ebrahim, Jonna;
- Kallankari, Hanna;
- Mignot, Cyril;
- Depienne, Christel;
- Keren, Boris;
- Nougues, Marie‐Christine;
- Alsahlawi, Zahra;
- Romito, Antonio;
- Martini, Javier;
- Toosi, Mehran B.;
- Carroll, Christopher J.;
- Tripolszki, Kornelia;
- Bauer, Peter;
- Uusimaa, Johanna;
- Bertoli‐Avella, Aida M.
Publication type:
Article
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.
Published in:
Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
By:
- Delvallée, Clarisse;
- Nicaise, Samuel;
- Antin, Manuela;
- Leuvrey, Anne‐Sophie;
- Nourisson, Elsa;
- Leitch, Carmen C.;
- Kellaris, Georgios;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Scheidecker, Sophie;
- Keren, Boris;
- Depienne, Christel;
- Klar, Joakim;
- Dahl, Niklas;
- Deleuze, Jean‐François;
- Génin, Emmanuelle;
- Redon, Richard;
- Demurger, Florence;
- Devriendt, Koenraad;
- Mathieu‐Dramard, Michèle
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
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
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
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
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
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

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