Jon Andoni Urtizberea

J Andoni Urtizberea 12 collaborations

Nicolas Lévy 4 collaborations

Edoardo Malfatti 4 collaborations

Susana Quijano-Roy 3 collaborations

J A Urtizberea 3 collaborations

Martin Krahn 3 collaborations

Bruno Eymard 3 collaborations

Corinne Métay 3 collaborations

Jean-Michel Vallat 2 collaborations

Jordi Díaz-Manera 2 collaborations

Meriem Tazir 2 collaborations

Valérie Delague 2 collaborations

Marc Bartoli 2 collaborations

Ariane Choumert 2 collaborations

Tanya Stojkovic 2 collaborations

Volker Straub 2 collaborations

Sandra Donkervoort 2 collaborations

Emmanuelle Campana-Salort 2 collaborations

Ana Ferreiro 2 collaborations

Carsten G Bönnemann 2 collaborations

Pascale Richard 2 collaborations

Gianmarco Severa 2 collaborations

Mathieu Cerino 2 collaborations

Claudia Castiglioni 2 collaborations

France Leturcq 2 collaborations

Hadil Alrohaif 1 collaboration

Sayed A Gouda 1 collaboration

Laila Bastaki 1 collaboration

Justine Lerat 1 collaboration

Corinne Magdelaine 1 collaboration

Anne-Françoise Roux 1 collaboration

Léa Darnaud 1 collaboration

Hélène Beauvais-Dzugan 1 collaboration

Steven Naud 1 collaboration

Laurence Richard 1 collaboration

Paco Derouault 1 collaboration

Karima Ghorab 1 collaboration

Laurent Magy 1 collaboration

Pascal Cintas 1 collaboration

Eric Bieth 1 collaboration

Marie-Christine Arne-Bes 1 collaboration

Cyril Goizet 1 collaboration

Caroline Espil-Taris 1 collaboration

Hubert Journel 1 collaboration

Annick Toutain 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Fanny Laffargue 1 collaboration

Philippe Corcia 1 collaboration

Laurent Pasquier 1 collaboration

Mélanie Fradin 1 collaboration

Sylva Napuri 1 collaboration

Jonathan Ciron 1 collaboration

Jean-Marc Boulesteix 1 collaboration

Franck Sturtz 1 collaboration

Anne-Sophie Lia 1 collaboration

Myriam Vezain 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Yoann Vial 1 collaboration

Sophie Coutant 1 collaboration

Séverine Drunat 1 collaboration

Anne Rolland 1 collaboration

Agnès Jacquin-Piques 1 collaboration

Séverine Fehrenbach 1 collaboration

Gaël Nicolas 1 collaboration

François Lecoquierre 1 collaboration

Pascale Saugier-Veber 1 collaboration

Danique Beijer 1 collaboration

Tine Deconinck 1 collaboration

Jan L De Bleecker 1 collaboration

Maria Teresa Dotti 1 collaboration

Alessandro Malandrini 1 collaboration

Miren Zulaica 1 collaboration

Adolfo López de Munain 1 collaboration

Bob Asselbergh 1 collaboration

Peter De Jonghe 1 collaboration

Jonathan Baets 1 collaboration

Guy Helman 1 collaboration

Suvasini Sharma 1 collaboration

Joanna Crawford 1 collaboration

Bijoy Patra 1 collaboration

Puneet Jain 1 collaboration

Stephen J Bent 1 collaboration

Ravindra K Saran 1 collaboration

Ryan J Taft 1 collaboration

Marjo S van der Knaap 1 collaboration

Cas Simons 1 collaboration

Marco Savarese 1 collaboration

Johanna Palmio 1 collaboration

Juan José Poza 1 collaboration

Jan Weinberg 1 collaboration

Montse Olive 1 collaboration

Ana Maria Cobo 1 collaboration

Anna Vihola 1 collaboration

Per Harald Jonson 1 collaboration

Jaakko Sarparanta 1 collaboration

Federico García-Bragado 1 collaboration

Peter Hackman 1 collaboration

Bjarne Udd 1 collaboration

Gerardo Gutiérrez Gutiérrez 1 collaboration

Míriam Almendrote 1 collaboration

Sharona Azriel 1 collaboration

José Eulalio Bárcena 1 collaboration

Pablo Cabezudo García 1 collaboration

Ana Camacho Salas 1 collaboration

Carlos Casanova Rodríguez 1 collaboration

Ana María Cobo 1 collaboration

Patricia Díaz Guardiola 1 collaboration

Roberto Fernández-Torrón 1 collaboration

María Pía Gallano Petit 1 collaboration

Pablo García Pavía 1 collaboration

María Gómez Gallego 1 collaboration

Antonio José Gutiérrez Martínez 1 collaboration

Ivonne Jericó 1 collaboration

Solange Kapetanovic García 1 collaboration

Adolfo López de Munaín Arregui 1 collaboration

Loreto Martorell 1 collaboration

Germán Morís de la Tassa 1 collaboration

Raúl Moreno Zabaleta 1 collaboration

José Luis Muñoz-Blanco 1 collaboration

Juana Olivar Roldán 1 collaboration

Samuel Ignacio Pascual Pascual 1 collaboration

Rafael Peinado Peinado 1 collaboration

Helena Pérez 1 collaboration

Juan José Poza Aldea 1 collaboration

María Rabasa 1 collaboration

Alba Ramos 1 collaboration

Alfredo Rosado Bartolomé 1 collaboration

Miguel Ángel Rubio Pérez 1 collaboration

Gustavo Zapata-Wainberg 1 collaboration

Eduardo Gutiérrez-Rivas 1 collaboration

Andoni Echaniz-Laguna 1 collaboration

Cecilia Altuzarra 1 collaboration

Alain Verloes 1 collaboration

Marta Gomez Garcia De La Banda 1 collaboration

Raluca Anca Tudorache 1 collaboration

Altynshash Jaxybayeva 1 collaboration

Bakhytkul Myrzaliyeva 1 collaboration

Bruno Francou 1 collaboration

Alexandra Salvi 1 collaboration

Cristina Skrypnyk 1 collaboration

Nathalie Da Silva 1 collaboration

Moiz Bakhiet 1 collaboration

Catherine Robert 1 collaboration

André Megarbané 1 collaboration

Marzieh Babaee 1 collaboration

Farzad Fatehi 1 collaboration

Seyed Mansoor Rayegani 1 collaboration

Andrea Barp 1 collaboration

Pascal Laforet 1 collaboration

Luca Bello 1 collaboration

Giorgio Tasca 1 collaboration

John Vissing 1 collaboration

Mauro Monforte 1 collaboration

Enzo Ricci 1 collaboration

Elena Pegoraro 1 collaboration

Claudio Semplicini 1 collaboration

Roberto Stramare 1 collaboration

Olivier Scheidegger 1 collaboration

Jana Haberlova 1 collaboration

Chiara Marini-Bettolo 1 collaboration

Nicoline Løkken 1 collaboration

Jordi Diaz-Manera 1 collaboration

Jon A Urtizberea 1 collaboration

Eugenio Mercuri 1 collaboration

Martin Kynčl 1 collaboration

Maggie C Walter 1 collaboration

Robert Y Carlier 1 collaboration

G Gutiérrez Gutiérrez 1 collaboration

J Díaz-Manera 1 collaboration

M Almendrote 1 collaboration

S Azriel 1 collaboration

J Eulalio Bárcena 1 collaboration

P Cabezudo García 1 collaboration

A Camacho Salas 1 collaboration

C Casanova Rodríguez 1 collaboration

A M Cobo 1 collaboration

P Díaz Guardiola 1 collaboration

R Fernández-Torrón 1 collaboration

M P Gallano Petit 1 collaboration

P García Pavía 1 collaboration

M Gómez Gallego 1 collaboration

A J Gutiérrez Martínez 1 collaboration

I Jericó 1 collaboration

S Kapetanovic García 1 collaboration

A López de Munaín Arregui 1 collaboration

L Martorell 1 collaboration

G Morís de la Tassa 1 collaboration

R Moreno Zabaleta 1 collaboration

J L Muñoz-Blanco 1 collaboration

J Olivar Roldán 1 collaboration

S I Pascual Pascual 1 collaboration

R Peinado Peinado 1 collaboration

H Pérez 1 collaboration

J J Poza Aldea 1 collaboration

M Rabasa 1 collaboration

A Ramos 1 collaboration

A Rosado Bartolomé 1 collaboration

M Á Rubio Pérez 1 collaboration

G Zapata-Wainberg 1 collaboration

E Gutiérrez-Rivas 1 collaboration

Rocío N Villar-Quiles 1 collaboration

Alix de Becdelièvre 1 collaboration

Corine Gartioux 1 collaboration

Valérie Jobic 1 collaboration

A Reghan Foley 1 collaboration

Riley M McCarty 1 collaboration

Ying Hu 1 collaboration

Rita Menassa 1 collaboration

Laurence Michel 1 collaboration

Gaelle Gousse 1 collaboration

Arnaud Lacour 1 collaboration

Philippe Petiot 1 collaboration

Nathalie Streichenberger 1 collaboration

Léa Declerck 1 collaboration

Guilhem Sole 1 collaboration

Alain Furby 1 collaboration

Matthieu Cérino 1 collaboration

Diana Bharucha-Goebel 1 collaboration

Charlotte J Sumner 1 collaboration

Anne M Connolly 1 collaboration

Valérie Allamand 1 collaboration

Juliette Ropars 1 collaboration

Patricio González-Hormazábal 1 collaboration

Mario Abaji 1 collaboration

Sebastien Courrier 1 collaboration

Francesca Puppo 1 collaboration

Yves Mathieu 1 collaboration

Alejandra Trangulao 1 collaboration

Nicholas Earle 1 collaboration

Jorge Díaz 1 collaboration

Mario Campero 1 collaboration

Ricardo Hughes 1 collaboration

Carmen Vargas 1 collaboration

Rocío Cortés 1 collaboration

Karin Kleinsteuber 1 collaboration

Ignacio Acosta 1 collaboration

Lilian Jara 1 collaboration

Pablo Caviedes 1 collaboration

Svetlana Gorokhova 1 collaboration

Jorge A Bevilacqua 1 collaboration

Marie Gromand 1 collaboration

Paul Gueguen 1 collaboration

Anne Pervillé 1 collaboration

Fanny Ferroul 1 collaboration

Godelieve Morel 1 collaboration

Anrifati Harouna 1 collaboration

Bérénice Doray 1 collaboration

Jean-Luc Alessandri 1 collaboration

Stéphanie Robin 1 collaboration

Karine Nguyen 1 collaboration

Natacha Broucqsault 1 collaboration

Charlene Chaix 1 collaboration

Stephane Roche 1 collaboration

Jérôme D Robin 1 collaboration

Catherine Vovan 1 collaboration

Laurene Gerard 1 collaboration

André Mégarbané 1 collaboration

Remi Bellance 1 collaboration

Christine Barnérias 1 collaboration

Albert David 1 collaboration

Melanie Fradin 1 collaboration

Véronique Manel 1 collaboration

Sabrina Sacconi 1 collaboration

Vincent Tiffreau 1 collaboration

Fabien Zagnoli 1 collaboration

Jean-Marie Cuisset 1 collaboration

Emmanuelle Salort-Campana 1 collaboration

Shahram Attarian 1 collaboration

Rafaëlle Bernard 1 collaboration

Frederique Magdinier 1 collaboration

Valérie Biancalana 1 collaboration

Aurélien Perrin 1 collaboration

Laurence Michel-Calemard 1 collaboration

Juliette Nectoux 1 collaboration

Céline Bouchet-Séraphin 1 collaboration

Cécile Acquaviva-Bourdain 1 collaboration

Annamaria Molon 1 collaboration

Frédérique Audic 1 collaboration

Brigitte Chabrol 1 collaboration

Jean Pouget 1 collaboration

Roseline Froissart 1 collaboration

Judith Melki 1 collaboration

John Rendu 1 collaboration

François Petit 1 collaboration

Nathalie Seta 1 collaboration

Damien Sternberg 1 collaboration

Julien Fauré 1 collaboration

Mireille Cossée 1 collaboration

Jean-Claude Kaplan 1 collaboration

J Lerat 1 collaboration

C Magdelaine 1 collaboration

A Lunati 1 collaboration

H Dzugan 1 collaboration

C Dejoie 1 collaboration

M Rego 1 collaboration

P Beze Beyrie 1 collaboration

E Bieth 1 collaboration

P Calvas 1 collaboration

P Cintas 1 collaboration

A Delaubrier 1 collaboration

F Demurger 1 collaboration

B Gilbert-Dussardier 1 collaboration

C Goizet 1 collaboration

H Journel 1 collaboration

F Laffargue 1 collaboration

L Magy 1 collaboration

F Taithe 1 collaboration

A Toutain 1 collaboration

F Sturtz 1 collaboration

A S Lia 1 collaboration

Rocio N Villar-Quiles 1 collaboration

Maja von der Hagen 1 collaboration

Victoria Gonzalez 1 collaboration

Enrico Bertini 1 collaboration

Denys Chaigne 1 collaboration

Jaume Colomer 1 collaboration

Maria Luz Cuadrado 1 collaboration

Marianne de Visser 1 collaboration

Isabelle Desguerre 1 collaboration

Nathalie Goemans 1 collaboration

Angela Kaindl 1 collaboration

Emmanuelle Lagrue 1 collaboration

Jürg Lütschg 1 collaboration

Michèle Mayer 1 collaboration

Luciano Merlini 1 collaboration

David Orlikowski 1 collaboration

Ulrike Reuner 1 collaboration

Mustafa A Salih 1 collaboration

Beate Schlotter-Weigel 1 collaboration

Mechthild Stoetter 1 collaboration

Haluk Topaloglu 1 collaboration

Anneke van der Kooi 1 collaboration

Ekkehard Wilichowski 1 collaboration

Norma B Romero 1 collaboration

Michel Fardeau 1 collaboration

Brigitte Estournet 1 collaboration

Ulrike Schara 1 collaboration

Andre Megarbane 1 collaboration

Sami Bizzari 1 collaboration

Asha Deepthi 1 collaboration

Sandra Sabbagh 1 collaboration

Hicham Mansour 1 collaboration

Eliane Chouery 1 collaboration

Ghassan Hmaimess 1 collaboration

Rosette Jabbour 1 collaboration

Cybel Mehawej 1 collaboration

Saada Alame 1 collaboration

Abeer Hani 1 collaboration

Dana Hasbini 1 collaboration

Ismat Ghanem 1 collaboration

Salam Koussa 1 collaboration

Mahmoud Taleb Al-Ali 1 collaboration

Marc Obeid 1 collaboration

Diana Bou Talea 1 collaboration

Gerard Lefranc 1 collaboration

Stephany El Hayek 1 collaboration

Margaux Lemoine 1 collaboration

Marta Gomez 1 collaboration

Lamiae Grimaldi 1 collaboration

Carina Schey 1 collaboration

Anna Kole 1 collaboration

Philipp von Gallwitz 1 collaboration

Amy Whiting 1 collaboration

Douglas Foerster 1 collaboration

Alla Zozulya-Weidenfeller 1 collaboration

Nika Schuermans 1 collaboration

Salima El Chehadeh 1 collaboration

Dimitri Hemelsoet 1 collaboration

Jérémie Gautheron 1 collaboration

Marie-Christine Vantyghem 1 collaboration

Sonia Nouioua 1 collaboration

Corinne Vigouroux 1 collaboration

Martine Auclair 1 collaboration

Elke Bogaert 1 collaboration

Sara Dufour 1 collaboration

Fumiya Okawa 1 collaboration

Pascale Hilbert 1 collaboration

Nike Van Doninck 1 collaboration

Marie-Caroline Taquet 1 collaboration

Toon Rosseel 1 collaboration

Griet De Clercq 1 collaboration

Elke Debackere 1 collaboration

Carole Van Haverbeke 1 collaboration

Ferroudja Ramdane Cherif 1 collaboration

Jean-Baptiste Chanson 1 collaboration

Benoit Funalot 1 collaboration

François-Jérôme Authier 1 collaboration

Sabine Kaya 1 collaboration

Wim Terryn 1 collaboration

Steven Callens 1 collaboration

Bernard Depypere 1 collaboration

Jo Van Dorpe 1 collaboration

None None 1 collaboration

Bruce Poppe 1 collaboration

Francis Impens 1 collaboration

Noboru Mizushima 1 collaboration

Christel Depienne 1 collaboration

Isabelle Jéru 1 collaboration

Bart Dermaut 1 collaboration

Affiliations

Publications (26)

[When all roads lead to Africa…].

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Leukoencephalopathy due to variants in

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.

What is the Next Step after an Electrodiagnostic Study in Children with Polyneuropathies? Rationale for Laboratory and Other Diagnostic Tests.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

[The Schwartz-Jampel syndrome].

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

STAC3 related congenital myopathy: A case series of seven Comorian patients.

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

[The Frozen Man and the Chinese Alphabet].

Metabolic Myopathies in the Era of Next-Generation Sequencing.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.

The clinical, histologic, and genotypic spectrum of

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

[The SMA France national registry: already encouraging results].

Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey.

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Réseau de co-auteurs