Manju A Kurian

None None 7 collaborations

Vincenzo Leuzzi 4 collaborations

Dora Steel 3 collaborations

Jennifer Friedman 3 collaborations

Toni S Pearson 3 collaborations

Thomas Opladen 3 collaborations

Mario Mastrangelo 3 collaborations

Roser Pons 3 collaborations

Kathrin Jeltsch 3 collaborations

Alba Sanchis-Juan 2 collaborations

Serena Galosi 2 collaborations

Russell C Dale 2 collaborations

Shekeeb S Mohammad 2 collaborations

F Lucy Raymond 2 collaborations

Amy McTague 2 collaborations

Saadet Mercimek-Andrews 2 collaborations

Thomas Lücke 2 collaborations

Mari Oppebøen 2 collaborations

Filippo Manti 2 collaborations

Eduardo López-Laso 2 collaborations

Elisenda Cortès-Saladelafont 2 collaborations

H Serap Sivri 2 collaborations

Angeles García-Cazorla 2 collaborations

Tomáš Honzík 2 collaborations

Helly Goez 2 collaborations

Georg F Hoffmann 2 collaborations

Alberto Burlina 2 collaborations

Jan Kulhánek 2 collaborations

Oya Kuseyri Hübschmann 2 collaborations

Laura Cif 1 collaboration

Diane Demailly 1 collaboration

Jean-Pierre Lin 1 collaboration

Katy E Barwick 1 collaboration

Mario Sa 1 collaboration

Lucia Abela 1 collaboration

Sony Malhotra 1 collaboration

Wui K Chong 1 collaboration

Adeline Ngoh 1 collaboration

Natalie Trump 1 collaboration

Esther Meyer 1 collaboration

Xavier Vasques 1 collaboration

Julia Rankin 1 collaboration

Meredith W Allain 1 collaboration

Carolyn D Applegate 1 collaboration

Sanaz Attaripour Isfahani 1 collaboration

Julien Baleine 1 collaboration

Bettina Balint 1 collaboration

Jennifer A Bassetti 1 collaboration

Emma L Baple 1 collaboration

Kailash P Bhatia 1 collaboration

Catherine Blanchet 1 collaboration

Lydie Burglen 1 collaboration

Gilles Cambonie 1 collaboration

Emilie Chan Seng 1 collaboration

Sandra Chantot Bastaraud 1 collaboration

Fabienne Cyprien 1 collaboration

Christine Coubes 1 collaboration

Vincent d'Hardemare 1 collaboration

Asif Doja 1 collaboration

Nathalie Dorison 1 collaboration

Diane Doummar 1 collaboration

Marisela E Dy-Hollins 1 collaboration

Ellyn Farrelly 1 collaboration

David R Fitzpatrick 1 collaboration

Conor Fearon 1 collaboration

Elizabeth L Fieg 1 collaboration

Brent L Fogel 1 collaboration

Eva B Forman 1 collaboration

Rachel G Fox 1 collaboration

William A Gahl 1 collaboration

Victoria Gonzalez 1 collaboration

Tracey D Graves 1 collaboration

Allison Gregory 1 collaboration

Mark Hallett 1 collaboration

Harutomo Hasegawa 1 collaboration

Susan J Hayflick 1 collaboration

Ada Hamosh 1 collaboration

Marie Hully 1 collaboration

Sandra Jansen 1 collaboration

Suh Young Jeong 1 collaboration

Joel B Krier 1 collaboration

Sidney Krystal 1 collaboration

Kishore R Kumar 1 collaboration

Chloé Laurencin 1 collaboration

Hane Lee 1 collaboration

Gaetan Lesca 1 collaboration

Laurence Lion François 1 collaboration

Timothy Lynch 1 collaboration

Neil Mahant 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Christophe Milesi 1 collaboration

Kelly A Mills 1 collaboration

Michel Mondain 1 collaboration

Hugo Morales-Briceno 1 collaboration

John R Ostergaard 1 collaboration

Swasti Pal 1 collaboration

Juan C Pallais 1 collaboration

Frédérique Pavillard 1 collaboration

Pierre-Francois Perrigault 1 collaboration

Andrea K Petersen 1 collaboration

Gustavo Polo 1 collaboration

Gaetan Poulen 1 collaboration

Tuula Rinne 1 collaboration

Thomas Roujeau 1 collaboration

Caleb Rogers 1 collaboration

Agathe Roubertie 1 collaboration

Michelle Sahagian 1 collaboration

Elise Schaefer 1 collaboration

Laila Selim 1 collaboration

Richard Selway 1 collaboration

Nutan Sharma 1 collaboration

Rebecca Signer 1 collaboration

Ariane G Soldatos 1 collaboration

David A Stevenson 1 collaboration

Fiona Stewart 1 collaboration

Michel Tchan 1 collaboration

Ishwar C Verma 1 collaboration

Bert B A de Vries 1 collaboration

Jenny L Wilson 1 collaboration

Derek A Wong 1 collaboration

Raghda Zaitoun 1 collaboration

Dolly Zhen 1 collaboration

Anna Znaczko 1 collaboration

Claudio M de Gusmão 1 collaboration

Victor S C Fung 1 collaboration

Mary D King 1 collaboration

Luis Rohena 1 collaboration

Jeff L Waugh 1 collaboration

Camilo Toro 1 collaboration

Maya Topf 1 collaboration

Philippe Coubes 1 collaboration

Kathleen M Gorman 1 collaboration

Nathan L Absalom 1 collaboration

Vivian W Y Liao 1 collaboration

Kavitha Kothur 1 collaboration

Dinesh C Indurthi 1 collaboration

Bruce Bennetts 1 collaboration

Christopher Troedson 1 collaboration

Sachin Gupta 1 collaboration

Iain S McGregor 1 collaboration

Michael T Bowen 1 collaboration

Damien Lederer 1 collaboration

Sandrine Mary 1 collaboration

Liesbeth De Waele 1 collaboration

Katrien Jansen 1 collaboration

Deepak Gill 1 collaboration

Rikke S Møller 1 collaboration

Philip K Ahring 1 collaboration

Mary Chebib 1 collaboration

Marcia A Hasenahuer 1 collaboration

James A Baker 1 collaboration

Katy Barwick 1 collaboration

Sofia T Duarte 1 collaboration

Keren J Carss 1 collaboration

Janet Thornton 1 collaboration

Laura Gilbert 1 collaboration

Angeles Garcia-Cazorla 1 collaboration

Stacy K H Tay 1 collaboration

Jolanta Sykut-Cegielska 1 collaboration

Mitsuhiro Kato 1 collaboration

Kathleen D Meeks 1 collaboration

Lisa Flint 1 collaboration

Simone Martinelli 1 collaboration

Viviana Cordeddu 1 collaboration

Ambra Lanzo 1 collaboration

Eleonora Palma 1 collaboration

Luca Pannone 1 collaboration

Andrea Ciolfi 1 collaboration

Michela Di Nottia 1 collaboration

Teresa Rizza 1 collaboration

Gianfranco Bocchinfuso 1 collaboration

Alice Traversa 1 collaboration

Viviana Caputo 1 collaboration

Andrea Farrotti 1 collaboration

Claudia Carducci 1 collaboration

Laura Bernardini 1 collaboration

Susanna Cogo 1 collaboration

Maria Paglione 1 collaboration

Martina Venditti 1 collaboration

Annarita Bentivoglio 1 collaboration

Joanne Ng 1 collaboration

Laura Civiero 1 collaboration

Elisa Greggio 1 collaboration

Lorenzo Stella 1 collaboration

Flavia Trettel 1 collaboration

Miriam Sciaccaluga 1 collaboration

Cristina Roseti 1 collaboration

Rosalba Carrozzo 1 collaboration

Sergio Fucile 1 collaboration

Cristina Limatola 1 collaboration

Elia Di Schiavi 1 collaboration

Marco Tartaglia 1 collaboration

Yilmaz Yildiz 1 collaboration

Birgit Assmann 1 collaboration

Simon Heales 1 collaboration

Simon Pope 1 collaboration

Francesco Porta 1 collaboration

Luc Regal 1 collaboration

Rafael Artuch 1 collaboration

Gabriella Horvath 1 collaboration

Beat Thöny 1 collaboration

Sabine Scholl-Bürgi 1 collaboration

Marcel M Verbeek 1 collaboration

Tessa Wassenberg 1 collaboration

Mareike Keller 1 collaboration

Heiko Brennenstuhl 1 collaboration

Natalia Alexandra Julia Palacios 1 collaboration

Yılmaz Yıldız 1 collaboration

Jeanette Aimee Koht 1 collaboration

Suet-Na Wong 1 collaboration

Dimitrios I Zafeiriou 1 collaboration

Jesus Serrano-Lomelin 1 collaboration

Sven F Garbade 1 collaboration

Joaquín Alejandro Fernández Ramos 1 collaboration

Stacey Tay Kiat Hong 1 collaboration

Ivana Kavecan 1 collaboration

Francesca Manzoni 1 collaboration

Pablo Mir 1 collaboration

Galina Stevanović 1 collaboration

Cheuk-Wing Fung 1 collaboration

Omar Hikmat 1 collaboration

Pirjo Isohanni 1 collaboration

Nandaki Keshavan 1 collaboration

Matteo P Ferla 1 collaboration

Elisa Fassone 1 collaboration

Mary-Alice Abbott 1 collaboration

Marcello Bellusci 1 collaboration

Niklas Darin 1 collaboration

David Dimmock 1 collaboration

Daniele Ghezzi 1 collaboration

Henry Houlden 1 collaboration

Federica Invernizzi 1 collaboration

Nazreen B Kamarus Jaman 1 collaboration

Eva Morava 1 collaboration

Karin Naess 1 collaboration

Juan Darío Ortigoza-Escobar 1 collaboration

Sumit Parikh 1 collaboration

Alessandra Pennisi 1 collaboration

Giulia Barcia 1 collaboration

Karin B Tylleskär 1 collaboration

Damien Brackman 1 collaboration

Saskia B Wortmann 1 collaboration

Jenny C Taylor 1 collaboration

Laurence A Bindoff 1 collaboration

Vineta Fellman 1 collaboration

Shamima Rahman 1 collaboration

Affiliations

Publications (8)

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Gain-of-function

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

Réseau de co-auteurs