Stephane Fourcade

Publications (10)

Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.

Neuropathology and applied neurobiology

Avec: Pablo Ranea-Robles , Jorge Galino , Lluís Espinosa , Agatha Schlüter , Montserrat Ruiz , Noel Ylagan Calingasan , Francesc Villarroya , Alba Naudí , Reinald Pamplona , Isidre Ferrer , M Flint Beal , Manuel Portero-Otín , Stéphane Fourcade , Aurora Pujol

Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.

Acta neuropathologica

Avec: Janani Parameswaran , Leire Goicoechea , Laura Planas-Serra , Antoni Pastor , Montserrat Ruiz , Noel Y Calingasan , Cristina Guilera , Ester Aso , Jordi Boada , Reinald Pamplona , Manuel Portero-Otín , Rafael de la Torre , Isidre Ferrer , Carlos Casasnovas , Aurora Pujol , Stéphane Fourcade

High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.

Brain pathology (Zurich, Switzerland)

Avec: Stéphane Fourcade , Leire Goicoechea , Janani Parameswaran , Agatha Schlüter , Nathalie Launay , Montserrat Ruiz , Alexandre Seyer , Benoit Colsch , Noel Ylagan Calingasan , Isidre Ferrer , M Flint Beal , Frédéric Sedel , Aurora Pujol

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

Annals of clinical and translational neurology

Avec: Agustí Rodríguez-Palmero , Agatha Schlüter , Edgard Verdura , Montserrat Ruiz , Juan José Martínez , Isabelle Gourlaouen , Chandran Ka , Ricardo Lobato , Carlos Casasnovas , Gérald Le Gac , Stéphane Fourcade , Aurora Pujol

The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy.

Free radical biology & medicine

Avec: Andrea Coppa , Sanjib Guha , Stéphane Fourcade , Janani Parameswaran , Montserrat Ruiz , Ann B Moser , Agatha Schlüter , Michael P Murphy , Jose Miguel Lizcano , Antonio Miranda-Vizuete , Esther Dalfó , Aurora Pujol

A novel mutation in the

Journal of medical genetics

Avec: Carlos Casasnovas , Edgard Verdura , Valentina Vélez , Agatha Schlüter , Albert Pons-Escoda , Christian Homedes , Montserrat Ruiz , Stéphane Fourcade , Nathalie Launay , Aurora Pujol

The Value of Mouse Models of Rare Diseases: A Spanish Experience.

Frontiers in genetics

Avec: Silvia Murillo-Cuesta , Rafael Artuch , Fernando Asensio , Pedro de la Villa , Mara Dierssen , Jose Antonio Enríquez , Cristina Fillat , Stéphane Fourcade , Borja Ibáñez , Lluis Montoliu , Eduardo Oliver , Aurora Pujol , Eduardo Salido , Mario Vallejo , Isabel Varela-Nieto

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Neurology

Avec: Agatha Schlüter , Agustí Rodríguez-Palmero , Edgard Verdura , Valentina Vélez-Santamaría , Montserrat Ruiz , Stéphane Fourcade , Laura Planas-Serra , Juan José Martínez , Cristina Guilera , Marisa Girós , Rafael Artuch , María Eugenia Yoldi , Mar O'Callaghan , Angels García-Cazorla , Judith Armstrong , Itxaso Marti , Elisabet Mondragón Rezola , Claire Redin , Jean Louis Mandel , David Conejo , Concepción Sierra-Córcoles , Sergi Beltrán , Marta Gut , Elida Vázquez , Mireia Del Toro , Mónica Troncoso , Luis A Pérez-Jurado , Luis G Gutiérrez-Solana , Adolfo López de Munain , Carlos Casasnovas , Sergio Aguilera-Albesa , Alfons Macaya , Aurora Pujol , Auteur inconnu

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Brain : a journal of neurology

Avec: Nathalie Launay , Jone Lopez-Erauskin , Patrizia Bianchi , Sanjib Guha , Janani Parameswaran , Andrea Coppa , Lorenzo Torreni , Agatha Schlüter , Stéphane Fourcade , Abraham J Paredes-Fuentes , Rafael Artuch , Carlos Casasnovas , Montserrat Ruiz , Aurora Pujol

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Clinical genetics

Avec: Sara C Reichert , Rachel Li , Scott A Turner , Richard H van Jaarsveld , Maarten P G Massink , Marie-José H van den Boogaard , Mireia Del Toro , Agustí Rodríguez-Palmero , Stéphane Fourcade , Agatha Schlüter , Laura Planas-Serra , Aurora Pujol , Maria Iascone , Silvia Maitz , Lucy Loong , Helen Stewart , Elisa De Franco , Sian Ellard , Julie Frank , Raymond Lewandowski

Réseau de co-auteurs

Stéphane Fourcade 10 collaborations

Aurora Pujol 10 collaborations

Agatha Schlüter 8 collaborations

Montserrat Ruiz 8 collaborations

Carlos Casasnovas 5 collaborations

Janani Parameswaran 4 collaborations

Isidre Ferrer 3 collaborations

Laura Planas-Serra 3 collaborations

Nathalie Launay 3 collaborations

Agustí Rodríguez-Palmero 3 collaborations

Edgard Verdura 3 collaborations

Rafael Artuch 3 collaborations

Noel Ylagan Calingasan 2 collaborations

Reinald Pamplona 2 collaborations

M Flint Beal 2 collaborations

Manuel Portero-Otín 2 collaborations

Leire Goicoechea 2 collaborations

Cristina Guilera 2 collaborations

Juan José Martínez 2 collaborations

Andrea Coppa 2 collaborations

Sanjib Guha 2 collaborations

Mireia Del Toro 2 collaborations

Pablo Ranea-Robles 1 collaboration

Jorge Galino 1 collaboration

Lluís Espinosa 1 collaboration

Francesc Villarroya 1 collaboration

Alba Naudí 1 collaboration

Antoni Pastor 1 collaboration

Noel Y Calingasan 1 collaboration

Ester Aso 1 collaboration

Jordi Boada 1 collaboration

Rafael de la Torre 1 collaboration

Alexandre Seyer 1 collaboration

Benoit Colsch 1 collaboration

Frédéric Sedel 1 collaboration

Isabelle Gourlaouen 1 collaboration

Chandran Ka 1 collaboration

Ricardo Lobato 1 collaboration

Gérald Le Gac 1 collaboration

Ann B Moser 1 collaboration

Michael P Murphy 1 collaboration

Jose Miguel Lizcano 1 collaboration

Antonio Miranda-Vizuete 1 collaboration

Esther Dalfó 1 collaboration

Valentina Vélez 1 collaboration

Albert Pons-Escoda 1 collaboration

Christian Homedes 1 collaboration

Silvia Murillo-Cuesta 1 collaboration

Fernando Asensio 1 collaboration

Pedro de la Villa 1 collaboration

Mara Dierssen 1 collaboration

Jose Antonio Enríquez 1 collaboration

Cristina Fillat 1 collaboration

Borja Ibáñez 1 collaboration

Lluis Montoliu 1 collaboration

Eduardo Oliver 1 collaboration

Eduardo Salido 1 collaboration

Mario Vallejo 1 collaboration

Isabel Varela-Nieto 1 collaboration

Valentina Vélez-Santamaría 1 collaboration

Marisa Girós 1 collaboration

María Eugenia Yoldi 1 collaboration

Mar O'Callaghan 1 collaboration

Angels García-Cazorla 1 collaboration

Judith Armstrong 1 collaboration

Itxaso Marti 1 collaboration

Elisabet Mondragón Rezola 1 collaboration

Claire Redin 1 collaboration

Jean Louis Mandel 1 collaboration

David Conejo 1 collaboration

Concepción Sierra-Córcoles 1 collaboration

Sergi Beltrán 1 collaboration

Marta Gut 1 collaboration

Elida Vázquez 1 collaboration

Mónica Troncoso 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Luis G Gutiérrez-Solana 1 collaboration

Adolfo López de Munain 1 collaboration

Sergio Aguilera-Albesa 1 collaboration

Alfons Macaya 1 collaboration

None None 1 collaboration

Jone Lopez-Erauskin 1 collaboration

Patrizia Bianchi 1 collaboration

Lorenzo Torreni 1 collaboration

Abraham J Paredes-Fuentes 1 collaboration

Sara C Reichert 1 collaboration

Rachel Li 1 collaboration

Scott A Turner 1 collaboration

Richard H van Jaarsveld 1 collaboration

Maarten P G Massink 1 collaboration

Marie-José H van den Boogaard 1 collaboration

Maria Iascone 1 collaboration

Silvia Maitz 1 collaboration

Lucy Loong 1 collaboration

Helen Stewart 1 collaboration

Elisa De Franco 1 collaboration

Sian Ellard 1 collaboration

Julie Frank 1 collaboration

Raymond Lewandowski 1 collaboration