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 , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi , Constantin Yanicostas , Nadia Soussi-Yanicostas

Diagnostic Challenge and Neuromuscular Junction Contribution to ALS Pathogenesis.

Frontiers in neurology

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

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 , Edor Kabashi , Rima Nabbout

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

Cells

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

Autophagy and ALS: mechanistic insights and therapeutic implications.

Autophagy

Avec: Jason P Chua , Hortense De Calbiac , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi

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 , Edor Kabashi

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 , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi , 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 , Edor Kabashi

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

Data in brief

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

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 , Edor Kabashi , 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 , Edor Kabashi

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 , Edor Kabashi , 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