All papers authored by Montse Ruiz
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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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Laura Planas-Serra ,
Nathalie Launay ,
Leire Goicoechea ,
Bénédicte Heron,
Cristina Jou,
Natalia Juliá-Palacios ,
Montserrat Ruiz ,
Stéphane Fourcade ,
Carlos Casasnovas ,
Carolina De La Torre,
Antoinette Gelot ,
Maria Marsal ,
Pablo Loza-Alvarez ,
Àngels García-Cazorla ,
Ali Fatemi
and 4 other authors
,
Nathalie Launay ,
Leire Goicoechea ,
Bénédicte Heron,
Cristina Jou,
Natalia Juliá-Palacios ,
Montserrat Ruiz ,
Stéphane Fourcade ,
Carlos Casasnovas ,
Carolina De La Torre,
Antoinette Gelot ,
Maria Marsal ,
Pablo Loza-Alvarez ,
Àngels García-Cazorla ,
Ali Fatemi
and 4 other authors
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
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2022
Veronica Davalos ,
Carlos A. García-Prieto ,
Gerardo Ferrer,
Sergio Aguilera-Albesa,
Juan Valencia-Ramos,
Agustí Rodríguez-Palmero,
Montserrat Ruiz ,
Laura Planas-Serra ,
Iolanda Jordan,
Iosune Alegría,
Patricia Flores-Pérez ,
Verónica Cantarín,
Victoria Fumadó,
Maria Teresa Viadero,
Carlos Rodrigo
and 7 other authors
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,
Carlos A. García-Prieto ,
Gerardo Ferrer,
Sergio Aguilera-Albesa,
Juan Valencia-Ramos,
Agustí Rodríguez-Palmero,
Montserrat Ruiz ,
Laura Planas-Serra ,
Iolanda Jordan,
Iosune Alegría,
Patricia Flores-Pérez ,
Verónica Cantarín,
Victoria Fumadó,
Maria Teresa Viadero,
Carlos Rodrigo
and 7 other authors
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2021
Jesús Troya ,
Paul Bastard ,
Laura Planas-Serra ,
Pablo Ryan ,
Montse Ruiz ,
María de Carranza ,
Juan Torres ,
Amalia Martínez,
Laurent Abel ,
Jean-Laurent Casanova ,
Aurora Pujol
Download from link.springer.com
,
Paul Bastard ,
Laura Planas-Serra ,
Pablo Ryan ,
Montse Ruiz ,
María de Carranza ,
Juan Torres ,
Amalia Martínez,
Laurent Abel ,
Jean-Laurent Casanova ,
Aurora Pujol
Download from link.springer.com
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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2019
Beatriz De la Casa‐Fages ,
Gorka Fernández‐Eulate,
Josep Gamez ,
Raúl Barahona‐Hernando,
Germán Morís ,
María García‐Barcina,
Jon Infante,
Miren Zulaica,
Uxoa Fernández‐Pelayo,
Mikel Muñoz‐Oreja,
Miguel Urtasun,
Ander Olaskoaga,
Victoria Zelaya,
Ivonne Jericó,
Raquel Saez‐Villaverde
and 12 other authors
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,
Gorka Fernández‐Eulate,
Josep Gamez ,
Raúl Barahona‐Hernando,
Germán Morís ,
María García‐Barcina,
Jon Infante,
Miren Zulaica,
Uxoa Fernández‐Pelayo,
Mikel Muñoz‐Oreja,
Miguel Urtasun,
Ander Olaskoaga,
Victoria Zelaya,
Ivonne Jericó,
Raquel Saez‐Villaverde
and 12 other authors
Download from api.wiley.com
Beatriz De la Casa‐Fages,
Gorka Fernández‐Eulate,
Josep Gamez,
Raúl Barahona‐Hernando,
Germán Morís ,
María García‐Barcina,
Jon Infante,
Miren Zulaica,
Uxoa Fernández‐Pelayo,
Mikel Muñoz‐Oreja,
Miguel Urtasun,
Ander Olaskoaga,
Victoria Zelaya,
Ivonne Jericó,
Raquel Saez‐Villaverde
and 12 other authors
,
María García‐Barcina,
Jon Infante,
Miren Zulaica,
Uxoa Fernández‐Pelayo,
Mikel Muñoz‐Oreja,
Miguel Urtasun,
Ander Olaskoaga,
Victoria Zelaya,
Ivonne Jericó,
Raquel Saez‐Villaverde
and 12 other authors
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
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Devesh C. Pant ,
Nara Lygia de M. Sobreira,
Imen Dorboz,
Agatha Schluter,
Stéphane Fourcade,
Nathalie Launay,
Javier Joya,
Sergio Aguilera-Albesa ,
Maria Eugenia Yoldi,
Carlos Casasnovas,
Mary J. Willis,
Montserrat Ruiz ,
Dorothée Ville,
Gaetan Lesca ,
Karine Siquier-Pernet
and 31 other authors
,
Nara Lygia de M. Sobreira,
Imen Dorboz,
Agatha Schluter,
Stéphane Fourcade,
Nathalie Launay,
Javier Joya,
Sergio Aguilera-Albesa ,
Maria Eugenia Yoldi,
Carlos Casasnovas,
Mary J. Willis,
Montserrat Ruiz ,
Dorothée Ville,
Gaetan Lesca ,
Karine Siquier-Pernet
and 31 other authors
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
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