All papers authored by Aurora Pujol
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2022
Aurélien Sokal 
,
Paul Bastard ,
Pascal Chappert ,
Giovanna Barba-Spaeth ,
Slim Fourati ,
Alexis Vanderberghe ,
Pauline Lagouge-Roussey ,
Isabelle Meyts ,
Adrian Gervais ,
Magali Bouvier-Alias ,
Imane Azzaoui ,
Ignacio Fernández ,
Andréa de la Selle ,
Qian Zhang ,
Lucy Bizien
and 37 other authors
,
Paul Bastard ,
Pascal Chappert ,
Giovanna Barba-Spaeth ,
Slim Fourati ,
Alexis Vanderberghe ,
Pauline Lagouge-Roussey ,
Isabelle Meyts ,
Adrian Gervais ,
Magali Bouvier-Alias ,
Imane Azzaoui ,
Ignacio Fernández ,
Andréa de la Selle ,
Qian Zhang ,
Lucy Bizien
and 37 other authors
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination
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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
and 1 other authors
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,
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
and 1 other authors
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Xue Cao,
Wenjuan Li,
Ting Wang,
Dongzhi Ran,
Veronica Davalos,
Laura Planas-Serra ,
Aurora Pujol ,
Manel Esteller ,
Xiaolin Wang,
Huichuan Yu
,
Aurora Pujol ,
Manel Esteller ,
Xiaolin Wang,
Huichuan Yu
Accelerated biological aging in COVID-19 patients
Download from www.nature.com
Sukhleen Kour ,
Deepa S. Rajan,
Tyler R. Fortuna,
Eric N. Anderson,
Caroline Ward,
Youngha Lee,
Sangmoon Lee,
Yong Beom Shin,
Jong-Hee Chae,
Murim Choi ,
Karine Siquier,
Vincent Cantagrel ,
Jeanne Amiel,
Elliot S. Stolerman,
Sarah S. Barnett
and 55 other authors
,
Deepa S. Rajan,
Tyler R. Fortuna,
Eric N. Anderson,
Caroline Ward,
Youngha Lee,
Sangmoon Lee,
Yong Beom Shin,
Jong-Hee Chae,
Murim Choi ,
Karine Siquier,
Vincent Cantagrel ,
Jeanne Amiel,
Elliot S. Stolerman,
Sarah S. Barnett
and 55 other authors
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
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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
Pol Andrés‐Benito ,
Ellen Gelpi ,
Mariona Jové ,
Natalia Mota‐Martorell ,
Èlia Obis,
Manuel Portero‐Otin ,
Mònica Povedano,
Aurora Pujol ,
Reinald Pamplona ,
Isidro Ferrer
Download from onlinelibrary.wiley.com
,
Ellen Gelpi ,
Mariona Jové ,
Natalia Mota‐Martorell ,
Èlia Obis,
Manuel Portero‐Otin ,
Mònica Povedano,
Aurora Pujol ,
Reinald Pamplona ,
Isidro Ferrer
Download from onlinelibrary.wiley.com
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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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
Download from api.wiley.com
,
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
Download from api.wiley.com
Inga Harting ,
Murtadha Al-Saady ,
Ingeborg Krägeloh-Mann ,
Annette Bley ,
Maja Hempel ,
Tatjana Bierhals ,
Stephanie Karch ,
Ute Moog ,
Geneviève Bernard ,
Richard Huntsman ,
Rosalina M. L. van Spaendonk ,
Maaike Vreeburg ,
Agustí Rodríguez-Palmero ,
Aurora Pujol ,
Marjo S. van der Knaap
and 2 other authors
,
Murtadha Al-Saady ,
Ingeborg Krägeloh-Mann ,
Annette Bley ,
Maja Hempel ,
Tatjana Bierhals ,
Stephanie Karch ,
Ute Moog ,
Geneviève Bernard ,
Richard Huntsman ,
Rosalina M. L. van Spaendonk ,
Maaike Vreeburg ,
Agustí Rodríguez-Palmero ,
Aurora Pujol ,
Marjo S. van der Knaap
and 2 other authors
POLR3A variants with striatal involvement and extrapyramidal movement disorder
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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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Carlos Casasnovas,
Montserrat Ruiz,
Agatha Schlüter,
Alba Naudí,
Stéphane Fourcade,
Misericordia Veciana,
Sara Castañer,
Antonia Albertí,
Nuria Bargalló,
Maria Johnson,
Gerald V. Raymond,
Ali Fatemi,
Ann B. Moser,
Francesc Villarroya,
Manuel Portero-Otín
and 3 other authors
Download from link.springer.com
2018
Pablo Ranea‐Robles ,
Nathalie Launay,
Montserrat Ruiz,
Noel Ylagan Calingasan,
Magali Dumont,
Alba Naudí,
Manuel Portero‐Otín,
Reinald Pamplona ,
Isidre Ferrer,
M. Flint Beal,
Stéphane Fourcade ,
Aurora Pujol
,
Nathalie Launay,
Montserrat Ruiz,
Noel Ylagan Calingasan,
Magali Dumont,
Alba Naudí,
Manuel Portero‐Otín,
Reinald Pamplona ,
Isidre Ferrer,
M. Flint Beal,
Stéphane Fourcade ,
Aurora Pujol
Aberrant regulation of the GSK ‐3β/ NRF 2 axis unveils a novel therapy for adrenoleukodystrophy
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