Edor Kabashi

Affiliations

Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.

Publications (23)

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Epilepsia

Avec: Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson , Gwenaël Le Guyader , Gaetan Lesca , Cyril Mignot , Martino Montomoli , Elena Parrini , Hervé Isnard , Anne Rolland , Boris Keren , Alexandra Afenjar , Nathalie Dorison , Lynette G Sadleir , Delphine Breuillard , Raphael Levy , Marlène Rio , Sophie Dupont , Susanna Negrin , Alberto Danieli , Emmanuel Scalais , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Alice Poisson , Anne-Sophie Lebre , Anca Nica , Sylvie Odent , Tayeb Sekhara , Vesna Brankovic , Alice Goldenberg , Pascal Vrielynck , Damien Lederer , Hélène Maurey , Gaetano Terrone , Claude Besmond , Laurence Hubert , Patrick Berquin , Thierry Billette de Villemeur , Bertrand Isidor , Jeremy L Freeman , Heather C Mefford , Candace T Myers , Katherine B Howell , Andrés Rodríguez-Sacristán Cascajo , Pierre Meyer , David Genevieve , Agnès Guët , Diane Doummar , Julien Durigneux , Marieke F van Dooren , Marie Claire Y de Wit , Marion Gerard , Isabelle Marey , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Rima Nabbout

Overexpression of Toxic Poly(Glycine-Alanine) Aggregates in Primary Neuronal Cultures Induces Time-Dependent Autophagic and Synaptic Alterations but Subtle Activity Impairments.

Cells

Avec: Christina Steffke , Shreya Agarwal , Alberto Catanese

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances , Cyril Mignot , Isabelle Desguerre , Nicolas Garcelon , Rima Nabbout

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy.

Journal of visualized experiments : JoVE

Avec: Hortense de Calbiac , Adriana Dabacan , Raul Muresan , Sorana Ciura

Synaptic disruption and CREB-regulated transcription are restored by K

EMBO molecular medicine

Avec: Alberto Catanese , Sandeep Rajkumar , Daniel Sommer , Dennis Freisem , Alexander Wirth , Amr Aly , David Massa-López , Andrea Olivieri , Federica Torelli , Valentin Ioannidis , Joanna Lipecka , Ida Chiara Guerrera , Daniel Zytnicki , Albert Ludolph , Medhanie A Mulaw , Francesco Roselli , Tobias M Böckers

Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates.

Molecular cell

Avec: Steven Boeynaems , Yanniv Dorone , Yanrong Zhuang , Victoria Shabardina , Guozhong Huang , Anca Marian , Garam Kim , Anushka Sanyal , Nesli-Ece Şen , Daniel Griffith , Roberto Docampo , Keren Lasker , Iñaki Ruiz-Trillo , Georg Auburger , Alex S Holehouse , Yi Lin , Aaron D Gitler

Microglia Mitigate Neuronal Activation in a Zebrafish Model of Dravet Syndrome.

Cells

Avec: Alexandre Brenet , Julie Somkhit , Zsolt Csaba , Sorana Ciura , Constantin Yanicostas , Nadia Soussi-Yanicostas

Diagnostic Challenge and Neuromuscular Junction Contribution to ALS Pathogenesis.

Frontiers in neurology

Avec: Maria-Letizia Campanari , Annis-Rayan Bourefis ,

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Human mutation

Avec: Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider , Cyril Mignot , Gaetan Lesca , Delphine Breuillard , Martino Montomoli , Boris Keren , Diane Doummar , Thierry Billette de Villemeur , Alexandra Afenjar , Isabelle Marey , Marion Gerard , Hervé Isnard , Alice Poisson , Sophie Dupont , Patrick Berquin , Pierre Meyer , David Genevieve , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Agnès Guët , Emmanuel Scalais , Nathalie Dorison , Candace T Myers , Heather C Mefford , Katherine B Howell , Carla Marini , Jeremy L Freeman , Anca Nica , Gaetano Terrone , Tayeb Sekhara , Anne-Sophie Lebre , Sylvie Odent , Lynette G Sadleir , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Rima Nabbout

TDP-43 Regulation of AChE Expression Can Mediate ALS-Like Phenotype in Zebrafish.

Cells

Avec: Maria-Letizia Campanari , Anca Marian , Sorana Ciura ,

Autophagy and ALS: mechanistic insights and therapeutic implications.

Autophagy

Avec: Jason P Chua , Hortense De Calbiac , Sami J Barmada

Integrative genetic analysis illuminates ALS heritability and identifies risk genes.

Nature communications

Avec: Salim Megat , Natalia Mora , Jason Sanogo , Olga Roman , Alberto Catanese , Najwa Ouali Alami , Axel Freischmidt , Xhuljana Mingaj , Hortense De Calbiac , François Muratet , Sylvie Dirrig-Grosch , Stéphane Dieterle , Nick Van Bakel , Kathrin Müller , Kirsten Sieverding , Jochen Weishaupt , Peter Munch Andersen , Markus Weber , Christoph Neuwirth , Markus Margelisch , Andreas Sommacal , Kristel R Van Eijk , Jan H Veldink , Auteur inconnu , Géraldine Lautrette , Philippe Couratier , Agnès Camuzat , Isabelle Le Ber , Maurizio Grassano , Adriano Chio , Tobias Boeckers , Albert C Ludolph , Francesco Roselli , Deniz Yilmazer-Hanke , Stéphanie Millecamps , Erik Storkebaum , Chantal Sellier , Luc Dupuis

Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects.

Autophagy

Avec: Hortense de Calbiac , Solène Renault , Grégoire Haouy , Vincent Jung , Kevin Roger , Qihui Zhou , Maria-Letizia Campanari , Loïc Chentout , Doris Lou Demy , Anca Marian , Nicolas Goudin , Dieter Edbauer , Chiara Guerrera , Sorana Ciura ,

Functional Characterization of Neurofilament Light Splicing and Misbalance in Zebrafish.

Cells

Avec: Doris Lou Demy , Maria Letizia Campanari , Raphael Munoz-Ruiz , Heather D Durham , Benoit J Gentil ,

Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons.

Cell death & disease

Avec: Johannes Lehmann , Amr Aly , Christina Steffke , Luca Fabbio , Valentin Mayer , Natalie Dikwella , Kareen Halablab , Francesco Roselli , Simone Seiffert , Tobias M Boeckers , David Brenner , Medhanie Mulaw , Ritchie Ho , Alberto Catanese

Chloride deregulation and GABA depolarization in MTOR related malformations of cortical development.

Brain : a journal of neurology

Avec: Naziha Bakouh , Reyes Castaño-Martín , Alice Metais , Emanuela Loredana Dan , Estelle Balducci , Cerina Chhuon , Joanna Lepicka , Giulia Barcia , Emma Losito , Stéphane Lourdel , Gabrielle Planelles , Raul C Muresan , Vasile Vlad Moca , Anna Kaminska , Marie Bourgeois , Nicole Chemaly , Yasmine Rguez , Stéphane Auvin , Gilles Huberfeld , Pascale Varlet , Vahid Asnafi , Ida Chiara Guerrera , Rima Nabbout , Sorana Ciura , Thomas Blauwblomme

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

Tremor and other hyperkinetic movements (New York, N.Y.)

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

Functional characterization of a FUS mutant zebrafish line as a novel genetic model for ALS.

Neurobiology of disease

Avec: Annis-Rayan Bourefis , Maria-Letizia Campanari , Valerie Buee-Scherrer ,

Freezing activity brief data from a new FUS mutant zebrafish line.

Data in brief

Avec: Maria-Letizia Campanari , Annis-Rayan Bourefis , Valerie Buee-Scherrer ,

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

Tremor and other hyperkinetic movements (New York, N.Y.)

Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.

Genome medicine

Avec: Restuadi Restuadi , Frederik J Steyn , Shyuan T Ngo , Fei-Fei Cheng , Marta F Nabais , Mike J Thompson , Ting Qi , Yang Wu , Anjali K Henders , Leanne Wallace , Chris R Bye , Bradley J Turner , Laura Ziser , Susan Mathers , Pamela A McCombe , Merrilee Needham , David Schultz , Matthew C Kiernan , Wouter van Rheenen , Leonard H van den Berg , Jan H Veldink , Roel Ophoff , Alexander Gusev , Noah Zaitlen , Allan F McRae , Robert D Henderson , Naomi R Wray , Jean Giacomotto , Fleur C Garton

Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges.

Molecular therapy : the journal of the American Society of Gene Therapy

Avec: Annarita Miccio , Panagiotis Antoniou , Sorana Ciura ,

Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS.

Acta neuropathologica

Avec: Amr Aly , Zsofia I Laszlo , Sandeep Rajkumar , Tugba Demir , Nicole Hindley , Douglas J Lamont , Johannes Lehmann , Mira Seidel , Daniel Sommer , Mirita Franz-Wachtel , Francesca Barletta , Simon Heumos , Stefan Czemmel , Albert Ludolph , Tobias M Boeckers , Christopher M Henstridge , Alberto Catanese

Réseau de co-auteurs

Sorana Ciura 8 collaborations

Alberto Catanese 5 collaborations

Maria-Letizia Campanari 5 collaborations

Giulia Barcia 4 collaborations

Boris Keren 4 collaborations

Rima Nabbout 4 collaborations

Cyril Mignot 3 collaborations

Amr Aly 3 collaborations

Francesco Roselli 3 collaborations

Anca Marian 3 collaborations

Annis-Rayan Bourefis 3 collaborations

Claire Bar 2 collaborations

Amy Schneider 2 collaborations

Mélanie Jennesson 2 collaborations

Gwenaël Le Guyader 2 collaborations

Gaetan Lesca 2 collaborations

Martino Montomoli 2 collaborations

Hervé Isnard 2 collaborations

Alexandra Afenjar 2 collaborations

Nathalie Dorison 2 collaborations

Lynette G Sadleir 2 collaborations

Delphine Breuillard 2 collaborations

Sophie Dupont 2 collaborations

Emmanuel Scalais 2 collaborations

Anne De Saint Martin 2 collaborations

Salima El Chehadeh 2 collaborations

Jamel Chelly 2 collaborations

Alice Poisson 2 collaborations

Anne-Sophie Lebre 2 collaborations

Anca Nica 2 collaborations

Sylvie Odent 2 collaborations

Tayeb Sekhara 2 collaborations

Gaetano Terrone 2 collaborations

Patrick Berquin 2 collaborations

Thierry Billette de Villemeur 2 collaborations

Jeremy L Freeman 2 collaborations

Heather C Mefford 2 collaborations

Candace T Myers 2 collaborations

Katherine B Howell 2 collaborations

Pierre Meyer 2 collaborations

David Genevieve 2 collaborations

Agnès Guët 2 collaborations

Diane Doummar 2 collaborations

Marion Gerard 2 collaborations

Isabelle Marey 2 collaborations

Arnold Munnich 2 collaborations

Renzo Guerrini 2 collaborations

Ingrid E Scheffer 2 collaborations

Christina Steffke 2 collaborations

Anna Kaminska 2 collaborations

Hortense de Calbiac 2 collaborations

Sandeep Rajkumar 2 collaborations

Daniel Sommer 2 collaborations

Ida Chiara Guerrera 2 collaborations

Albert Ludolph 2 collaborations

Hortense De Calbiac 2 collaborations

Jan H Veldink 2 collaborations

Doris Lou Demy 2 collaborations

Johannes Lehmann 2 collaborations

Tobias M Boeckers 2 collaborations

Christel Depienne 2 collaborations

Oriane Trouillard 2 collaborations

Delphine Bouteiller 2 collaborations

Elsa Leitão 2 collaborations

Caroline Nava 2 collaborations

Yannick Marie 2 collaborations

Justine Guegan 2 collaborations

Sylvie Forlani 2 collaborations

Alexis Brice 2 collaborations

Mathieu Anheim 2 collaborations

Yves Agid 2 collaborations

Paul Krack 2 collaborations

Philippe Damier 2 collaborations

François Viallet 2 collaborations

Jean-Luc Houeto 2 collaborations

Franck Durif 2 collaborations

Marie Vidailhet 2 collaborations

Yulia Worbe 2 collaborations

Emmanuel Roze 2 collaborations

Andreas Hartmann 2 collaborations

Valerie Buee-Scherrer 2 collaborations

Mathieu Kuchenbuch 1 collaboration

Elena Parrini 1 collaboration

Anne Rolland 1 collaboration

Raphael Levy 1 collaboration

Marlène Rio 1 collaboration

Susanna Negrin 1 collaboration

Alberto Danieli 1 collaboration

Vesna Brankovic 1 collaboration

Alice Goldenberg 1 collaboration

Pascal Vrielynck 1 collaboration

Damien Lederer 1 collaboration

Hélène Maurey 1 collaboration

Claude Besmond 1 collaboration

Laurence Hubert 1 collaboration

Bertrand Isidor 1 collaboration

Andrés Rodríguez-Sacristán Cascajo 1 collaboration

Julien Durigneux 1 collaboration

Marieke F van Dooren 1 collaboration

Marie Claire Y de Wit 1 collaboration

Shreya Agarwal 1 collaboration

Marie Hully 1 collaboration

Tommaso Lo Barco 1 collaboration

Claude Cances 1 collaboration

Isabelle Desguerre 1 collaboration

Nicolas Garcelon 1 collaboration

Adriana Dabacan 1 collaboration

Raul Muresan 1 collaboration

Dennis Freisem 1 collaboration

Alexander Wirth 1 collaboration

David Massa-López 1 collaboration

Andrea Olivieri 1 collaboration

Federica Torelli 1 collaboration

Valentin Ioannidis 1 collaboration

Joanna Lipecka 1 collaboration

Daniel Zytnicki 1 collaboration

Medhanie A Mulaw 1 collaboration

Tobias M Böckers 1 collaboration

Steven Boeynaems 1 collaboration

Yanniv Dorone 1 collaboration

Yanrong Zhuang 1 collaboration

Victoria Shabardina 1 collaboration

Guozhong Huang 1 collaboration

Garam Kim 1 collaboration

Anushka Sanyal 1 collaboration

Nesli-Ece Şen 1 collaboration

Daniel Griffith 1 collaboration

Roberto Docampo 1 collaboration

Keren Lasker 1 collaboration

Iñaki Ruiz-Trillo 1 collaboration

Georg Auburger 1 collaboration

Alex S Holehouse 1 collaboration

Yi Lin 1 collaboration

Aaron D Gitler 1 collaboration

Alexandre Brenet 1 collaboration

Julie Somkhit 1 collaboration

Zsolt Csaba 1 collaboration

Constantin Yanicostas 1 collaboration

Nadia Soussi-Yanicostas 1 collaboration

Carla Marini 1 collaboration

Jason P Chua 1 collaboration

Sami J Barmada 1 collaboration

Salim Megat 1 collaboration

Natalia Mora 1 collaboration

Jason Sanogo 1 collaboration

Olga Roman 1 collaboration

Najwa Ouali Alami 1 collaboration

Axel Freischmidt 1 collaboration

Xhuljana Mingaj 1 collaboration

François Muratet 1 collaboration

Sylvie Dirrig-Grosch 1 collaboration

Stéphane Dieterle 1 collaboration

Nick Van Bakel 1 collaboration

Kathrin Müller 1 collaboration

Kirsten Sieverding 1 collaboration

Jochen Weishaupt 1 collaboration

Peter Munch Andersen 1 collaboration

Markus Weber 1 collaboration

Christoph Neuwirth 1 collaboration

Markus Margelisch 1 collaboration

Andreas Sommacal 1 collaboration

Kristel R Van Eijk 1 collaboration

None None 1 collaboration

Géraldine Lautrette 1 collaboration

Philippe Couratier 1 collaboration

Agnès Camuzat 1 collaboration

Isabelle Le Ber 1 collaboration

Maurizio Grassano 1 collaboration

Adriano Chio 1 collaboration

Tobias Boeckers 1 collaboration

Albert C Ludolph 1 collaboration

Deniz Yilmazer-Hanke 1 collaboration

Stéphanie Millecamps 1 collaboration

Erik Storkebaum 1 collaboration

Chantal Sellier 1 collaboration

Luc Dupuis 1 collaboration

Solène Renault 1 collaboration

Grégoire Haouy 1 collaboration

Vincent Jung 1 collaboration

Kevin Roger 1 collaboration

Qihui Zhou 1 collaboration

Loïc Chentout 1 collaboration

Nicolas Goudin 1 collaboration

Dieter Edbauer 1 collaboration

Chiara Guerrera 1 collaboration

Maria Letizia Campanari 1 collaboration

Raphael Munoz-Ruiz 1 collaboration

Heather D Durham 1 collaboration

Benoit J Gentil 1 collaboration

Luca Fabbio 1 collaboration

Valentin Mayer 1 collaboration

Natalie Dikwella 1 collaboration

Kareen Halablab 1 collaboration

Simone Seiffert 1 collaboration

David Brenner 1 collaboration

Medhanie Mulaw 1 collaboration

Ritchie Ho 1 collaboration

Naziha Bakouh 1 collaboration

Reyes Castaño-Martín 1 collaboration

Alice Metais 1 collaboration

Emanuela Loredana Dan 1 collaboration

Estelle Balducci 1 collaboration

Cerina Chhuon 1 collaboration

Joanna Lepicka 1 collaboration

Emma Losito 1 collaboration

Stéphane Lourdel 1 collaboration

Gabrielle Planelles 1 collaboration

Raul C Muresan 1 collaboration

Vasile Vlad Moca 1 collaboration

Marie Bourgeois 1 collaboration

Nicole Chemaly 1 collaboration

Yasmine Rguez 1 collaboration

Stéphane Auvin 1 collaboration

Gilles Huberfeld 1 collaboration

Pascale Varlet 1 collaboration

Vahid Asnafi 1 collaboration

Thomas Blauwblomme 1 collaboration

Restuadi Restuadi 1 collaboration

Frederik J Steyn 1 collaboration

Shyuan T Ngo 1 collaboration

Fei-Fei Cheng 1 collaboration

Marta F Nabais 1 collaboration

Mike J Thompson 1 collaboration

Ting Qi 1 collaboration

Yang Wu 1 collaboration

Anjali K Henders 1 collaboration

Leanne Wallace 1 collaboration

Chris R Bye 1 collaboration

Bradley J Turner 1 collaboration

Laura Ziser 1 collaboration

Susan Mathers 1 collaboration

Pamela A McCombe 1 collaboration

Merrilee Needham 1 collaboration

David Schultz 1 collaboration

Matthew C Kiernan 1 collaboration

Wouter van Rheenen 1 collaboration

Leonard H van den Berg 1 collaboration

Roel Ophoff 1 collaboration

Alexander Gusev 1 collaboration

Noah Zaitlen 1 collaboration

Allan F McRae 1 collaboration

Robert D Henderson 1 collaboration

Naomi R Wray 1 collaboration

Jean Giacomotto 1 collaboration

Fleur C Garton 1 collaboration

Annarita Miccio 1 collaboration

Panagiotis Antoniou 1 collaboration

Zsofia I Laszlo 1 collaboration

Tugba Demir 1 collaboration

Nicole Hindley 1 collaboration

Douglas J Lamont 1 collaboration

Mira Seidel 1 collaboration

Mirita Franz-Wachtel 1 collaboration

Francesca Barletta 1 collaboration

Simon Heumos 1 collaboration

Stefan Czemmel 1 collaboration

Christopher M Henstridge 1 collaboration