Researcher
Edgard Verdura
Institut d'Investigacio Biomedica de Bellvitge
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4 papers found
All papers authored by Edgard Verdura
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2023
Nathalie Launay 
,
Montserrat Ruiz ,
Laura Planas-Serra ,
Edgard Verdura ,
Agustí Rodríguez-Palmero ,
Agatha Schlüter,
Leire Goicoechea ,
Cristina Guilera ,
Josefina Casas ,
Felix Campelo ,
Emmanuelle Jouanguy,
Jean-Laurent Casanova ,
Odile Boespflug-Tanguy ,
Maria Vazquez Cancela,
Luis González Gutiérrez-Solana
and 3 other authors
,
Montserrat Ruiz ,
Laura Planas-Serra ,
Edgard Verdura ,
Agustí Rodríguez-Palmero ,
Agatha Schlüter,
Leire Goicoechea ,
Cristina Guilera ,
Josefina Casas ,
Felix Campelo ,
Emmanuelle Jouanguy,
Jean-Laurent Casanova ,
Odile Boespflug-Tanguy ,
Maria Vazquez Cancela,
Luis González Gutiérrez-Solana
and 3 other authors
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
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2020
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
,
Agatha Schlüter ,
Edgard Verdura ,
Montserrat Ruiz ,
Juan José Martínez,
Isabelle Gourlaouen,
Chandran Ka,
Ricardo Lobato,
Carlos Casasnovas ,
Gérald Le Gac ,
Stéphane Fourcade ,
Aurora Pujol
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
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Daphné Lehalle ,
Pierre Vabres,
Arthur Sorlin,
Tatjana Bierhals,
Magali Avila,
Virginie Carmignac,
Jill Clayton-Smith,
Martin Chevarin,
Benjamin Cogné ,
Ivon Cusco ,
Erin Torti,
Laurence Duplomb ,
Eveline De Bont,
Yuichi Abe,
Yannis Duffourd
and 36 other authors
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,
Pierre Vabres,
Arthur Sorlin,
Tatjana Bierhals,
Magali Avila,
Virginie Carmignac,
Jill Clayton-Smith,
Martin Chevarin,
Benjamin Cogné ,
Ivon Cusco ,
Erin Torti,
Laurence Duplomb ,
Eveline De Bont,
Yuichi Abe,
Yannis Duffourd
and 36 other authors
Upload
2019
Edgard Verdura ,
Agatha Schlüter,
Gorka Fernández‐Eulate,
Raquel Ramos‐Martín,
Miren Zulaica,
Laura Planas‐Serra ,
Montserrat Ruiz,
Stéphane Fourcade,
Carlos Casasnovas ,
Adolfo López de Munain,
Aurora Pujol
,
Agatha Schlüter,
Gorka Fernández‐Eulate,
Raquel Ramos‐Martín,
Miren Zulaica,
Laura Planas‐Serra ,
Montserrat Ruiz,
Stéphane Fourcade,
Carlos Casasnovas ,
Adolfo López de Munain,
Aurora Pujol
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
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