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  1. Johannesen, Katrine M. [Author]; Mitter, Diana [Author]; Janowski, Robert [Author]; Roth, Christian [Author]; Toulouse, Joseph [Author]; Poulat, Anne-Lise [Author]; Ville, Dorothee M. [Author]; Chatron, Nicolas [Author]; Brilstra, Eva [Author]; Geleijns, Karin [Author]; Born, Alfred Peter [Author]; McLean, Scott [Author]; Nugent, Kimberly [Author]; Baynam, Gareth [Author]; Poulton, Cathryn [Author]; Dreyer, Lauren [Author]; Gration, Dylan [Author]; Schulz, Solveig [Author]; Dieckmann, Andrea [Author]; Helbig, Katherine L. [Author]; Merkenschlager, Andreas [Author]; Abou Jamra, Rami [Author]; Finck, Anja [Author]; Gardella, Elena [Author]; [...]

    Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

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    2019

    Published in: Neurology / Genetics ; Bd. 5.2019, 6, Art.-Nr. e373, insgesamt 10 Seiten

  5. Alfaiz, Ali Abdullah; Müller, Verena; Boutry-Kryza, Nadia; Ville, Dorothée; Guex, Nicolas; de Bellescize, Julitta; Rivier, Clotilde; Labalme, Audrey; des Portes, Vincent; Edery, Patrick; Till, Marianne; Xenarios, Ioannis; Sanlaville, Damien; Herrmann, Johannes M; Lesca, Gaétan; Reymond, Alexandre

    West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

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    Springer Science and Business Media LLC, 2016

    Published in: European Journal of Human Genetics

  6. Zhang, Xiaochang; Ling, Jiqiang; Barcia, Giulia; Jing, Lili; Wu, Jiang; Barry, Brenda J.; Mochida, Ganeshwaran H.; Hill, R. Sean; Weimer, Jill M.; Stein, Quinn; Poduri, Annapurna; Partlow, Jennifer N.; Ville, Dorothée; Dulac, Olivier; Yu, Tim W.; Lam, Anh-Thu N.; Servattalab, Sarah; Rodriguez, Jacqueline; Boddaert, Nathalie; Munnich, Arnold; Colleaux, Laurence; Zon, Leonard I.; Söll, Dieter; Walsh, Christopher A.;

    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

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    Elsevier BV, 2014

    Published in: The American Journal of Human Genetics

  7. 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; Calender, Alain; Genton, Pierre

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

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    Wiley, 2010

    Published in: Epilepsia

  8. 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.; de Saint Martin, Anne; Van Gassen, Koen; Verbeek, Nienke E.; Ville, Dorothée; Villeneuve, Nathalie; [...]

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

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    Wiley, 2021

    Published in: Epilepsia

  9. Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cuscó, Ivon; Janette diMonda; Duran-Romaña, Ramon; Ekhilevitch, Nina; Fernández-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; [...]

    De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

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    Elsevier BV, 2022

    Published in: Genetics in Medicine

  10. Bonardi, Claudia M; Heyne, Henrike O; Fiannacca, Martina; Fitzgerald, Mark P; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaétan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; [...]

    KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

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    Oxford University Press (OUP), 2021

    Published in: Brain

  11. Johannesen, Katrine M.; Mitter, Diana; Janowski, Robert; Roth, Christian; Toulouse, Joseph; Poulat, Anne-Lise; Ville, Dorothee M.; Chatron, Nicolas; Brilstra, Eva; Geleijns, Karin; Born, Alfred Peter; McLean, Scott; Nugent, Kimberly; Baynam, Gareth; Poulton, Cathryn; Dreyer, Lauren; Gration, Dylan; Schulz, Solveig; Dieckmann, Andrea; Helbig, Katherine L.; Merkenschlager, Andreas; Jamra, Rami; Finck, Anja; Gardella, Elena; [...]

    Defining and expanding the phenotype of QARS -associated developmental epileptic encephalopathy

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    Ovid Technologies (Wolters Kluwer Health), 2019

    Published in: Neurology Genetics

  12. Cheddani, Lynda; Liabeuf, Sophie; Essig, Marie; Snanoudj, Renaud; Jacquelinet, Christian; Kerleau, Clarisse; Metzger, Marie; Balkau, Beverley; Drüeke, Tilman B; Hourmant, Maryvonne; Massy, Ziad A; Hourmant, Maryvonne; Blancho, Gilles; Diego, Cantarovich; Jacques, Dantal; Garandeau, Claire; Giral, Magali; Meurette, Aurélie; Chapelet, Agnès; Deltombe, Clément; Gourraud-Vercel, Caroline; Figueres, Lucile; Ville, Simon; Jacquemont, Lola; [...]

    Higher mortality risk among kidney transplant recipients than among estimated glomerular filtration rate–matched patients with CKD—preliminary results

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    Oxford University Press (OUP), 2021

    Published in: Nephrology Dialysis Transplantation

  13. Pant, Devesh C.; Dorboz, Imen; Schluter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera-Albesa, Sergio; Yoldi, Maria Eugenia; Casasnovas, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier-Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N.; [...]

    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

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    American Society for Clinical Investigation, 2019

    Published in: Journal of Clinical Investigation

  14. Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J.; Verstreken, Patrik; Cardon, Aaron; Stražišar, Barbara Gnidovec; Holder, J. Lloyd; Lesca, Gaetan; Mancardi, Maria M.; Poulat, Anne L.; Repetto, Gabriela M.; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura E.; Bosch, Friedrich; Brockmann, Knut; Cross, J. Helen; Doummar, Diane; Félix, Temis M.; Giuliano, Fabienne; Hori, Mutsuki; Hüning, Irina; [...]

    TBC1D24 genotype–phenotype correlation : Epilepsies and other neurologic features : Epilepsies and other neurologic features

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    Ovid Technologies (Wolters Kluwer Health), 2016

    Published in: Neurology

  15. Strehlow, Vincent; Heyne, Henrike O; Vlaskamp, Danique R M; Marwick, Katie F M; Rudolf, Gabrielle; de Bellescize, Julitta; Biskup, Saskia; Brilstra, Eva H; Brouwer, Oebele F; Callenbach, Petra M C; Hentschel, Julia; Hirsch, Edouard; Kind, Peter C; Mignot, Cyril; Platzer, Konrad; Rump, Patrick; Skehel, Paul A; Wyllie, David J A; Hardingham, Giles E; van Ravenswaaij-Arts, Conny M A; Lesca, Gaetan; Lemke, Johannes R; Arzimanoglou, Alexis; Augustijn, Paul B; [...]

    GRIN2A-related disorders: genotype and functional consequence predict phenotype

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    Oxford University Press (OUP), 2019

    Published in: Brain

  16. Wolff, Markus; Johannesen, Katrine M.; Hedrich, Ulrike B. S.; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothée; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gérard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stéphane; Miranda, Maria J.; Hempel, Maja; Brilstra, Eva; Knoers, Nine; [...]

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

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    Oxford University Press (OUP), 2017

    Published in: Brain

  17. Franz, David N.; Lawson, John A.; Yapici, Zuhal; Ikeda, Hiroko; Polster, Tilman; Nabbout, Rima; Curatolo, Paolo; de Vries, Petrus J.; Dlugos, Dennis J.; Voi, Maurizio; Fan, Jenna; Vaury, Alexandra; Pelov, Diana; French, Jacqueline A.; Schteinschnaider, Angeles; Sfaello, Ignacio; Lawson, John; Nagarajan, Lakshmi; Harvey, Simon; Verhelst, Hélène; De Waele, Liesbeth; Van Bogaert, Patrick; El Tahry, Riem; Jansen, Anna; [...]

    Everolimus for treatment-refractory seizures in TSC : Extension of a randomized controlled trial : Extension of a randomized controlled trial

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    Ovid Technologies (Wolters Kluwer Health), 2018

    Published in: Neurology Clinical Practice

  18. Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D’Amato, Lisa; d’Augères, Guillaume B.; de Vries, Petrus J.; Ferreira, José C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O’Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Shah, Seema; Takahashi, Yukitoshi; [...]

    Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

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    Springer Science and Business Media LLC, 2021

    Published in: Orphanet Journal of Rare Diseases

  19. de Vries, Petrus J.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D’Amato, Lisa; Beure d’Augères, Guillaume; Ferreira, José C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O’Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; [...]

    Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

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    Springer Science and Business Media LLC, 2020

    Published in: Journal of Neurodevelopmental Disorders

  20. Petrus J. de Vries; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; José C. Ferreira; Martha Feucht; Carla Fladrowski; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; [...]

    Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

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    2020

    Published in: Frontiers in Neurology