Laura Planas Serra - Dissemin

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All papers authored by Laura Planas Serra

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2023 Nathalie Launay

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, Montserrat Ruiz

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, Laura Planas-Serra

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, Edgard Verdura

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, Agustí Rodríguez-Palmero

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, Agatha Schlüter, Leire Goicoechea

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, Cristina Guilera

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, Josefina Casas

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, Felix Campelo

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, Emmanuelle Jouanguy, Jean-Laurent Casanova

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, Odile Boespflug-Tanguy

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, 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

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, Nathalie Launay

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, Leire Goicoechea

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, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios

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, Montserrat Ruiz

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, Stéphane Fourcade

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, Carlos Casasnovas

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, Carolina De La Torre, Antoinette Gelot

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, Pablo Loza-Alvarez

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, Àngels García-Cazorla

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, Ali Fatemi and 4 other authors

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

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2022 Veronica Davalos

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, Carlos A. García-Prieto

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, Gerardo Ferrer, Sergio Aguilera-Albesa, Juan Valencia-Ramos, Agustí Rodríguez-Palmero, Montserrat Ruiz

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, Laura Planas-Serra

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, Iolanda Jordan, Iosune Alegría, Patricia Flores-Pérez

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, Verónica Cantarín, Victoria Fumadó, Maria Teresa Viadero, Carlos Rodrigo and 7 other authors

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study

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Janani Parameswaran, Leire Goicoechea, Laura Planas-Serra

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, Antoni Pastor, Montserrat Ruiz, Noel Y. Calingasan, Cristina Guilera

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, Ester Aso, Jordi Boada, Reinald Pamplona

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, Manuel Portero-Otín, Rafael de la Torre, Isidre Ferrer, Carlos Casasnovas, Aurora Pujol

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and 1 other authors

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

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Xue Cao, Wenjuan Li, Ting Wang, Dongzhi Ran, Veronica Davalos, Laura Planas-Serra

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, Manel Esteller

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, Xiaolin Wang, Huichuan Yu

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Accelerated biological aging in COVID-19 patients

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Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, Chiara Paganini, Catherine Vanhulle, Walid Haouari, Nerea Gorría-Redondo, Elena Aznal-Sainz, Nathalie Boddaert, Laura Planas-Serra

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, Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Arnaud Bruneel, Antonio Rossi and 3 other authors

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

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Agatha Schlüter, Agustí Rodríguez-Palmero

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, Edgard Verdura, Valentina Vélez-Santamaría, Montserrat Ruiz, Stéphane Fourcade, Juan José Martínez, María Eugenia Yoldi, Cristina Guilera

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, Marisa Girós, Elisabet Mondragón Rezola, Laura Planas-Serra

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, Rafael Artuch, Claire Redin, Mar O'Callaghan and 21 other authors

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

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2021 Edgard Verdura, Agustí Rodríguez-Palmero

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, Valentina Vélez-Santamaria, Laura Planas-Serra

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, Irene de la Calle, Miquel Raspall-Chaure

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, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini

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, Lisa Pavinato

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, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estibaliz Barredo, Almudena Chacón and 20 other authors

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

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P. K. T. Öz, Şadiye Kübra Tüter Öz, Eric d’Ortenzio, Rebeca Pérez de Diego, Diederik van de Beek, Horst von Bernuth, Esra Akyüz Özkan, Martín Castillo de Vera, Loic de Pontual, Antonio Íñigo-Campos, Tayfun Özçelik, Maria Yolanda Ruiz del Prado, Michiel van Agtmael, Frank van Baarle, Menno D. de Jong and 898 other authors

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

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Şadiye Kübra Tüter Öz, Esra Akyüz Özkan, Antonio Íñigo-Campos, Tayfun Özçelik, Tom van der Poll, Marc van der Valk, Horst von Bernuth, Maria Yolanda Ruiz del Prado, Etablissement du Sang study group, Aliénor de la Chapelle, Martín Castillo de Vera, Eric d’Ortenzio, Michiel van Agtmael, Frank van Baarle, Niels van Mourik and 1115 other authors

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.

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Tayfun Özçelik, Qian Zhang, Vanessa Sancho Shimizu, Diederik van de Beek, Shen-Ying Zhang, Vanessa Sancho Shimizu, Julie Toubiana, Henrickson Se, Petter Brodin, Elie Haddad, Kathie Beland, Rebeca Perez De Diego, Aurora Pujol, Catherine M. Biggs, Agatha Schlüter and 147 other authors

SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

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Jesús Troya

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, Laura Planas-Serra

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, María de Carranza

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, Amalia Martínez, Laurent Abel

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, Jean-Laurent Casanova

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Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain

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Manuel Castro de Moura, Veronica Davalos, Laura Planas-Serra

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, Laura Planas Serra, Damiana Alvarez-Errico, Damiana Alvarez_Errico, Carles Arribas, Montserrat Ruiz, Sergio Aguilera-Albesa, Jesús Troya

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, Valencia-Ramos Juan, Valentina Vélez-Santamaria, Agustí Rodríguez-Palmero

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, Judit Villar-Garcia, Juan Pablo Horcajada and 21 other authors

Epigenome-wide association study of COVID-19 severity with respiratory failure

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Margherita Baldassarri, Nicola Picchiotti

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, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni and 134 other authors

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

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2020 Àngels García-Cazorla, Edgard Verdura, Enkhtuul Tsogtbaatar, Agatha Schlüter, Roser Urreizti, Natalia Juliá-Palacios, Jessica M. Tarnowski, Eric N. Anderson, Mireia del Toro, Leire Goicoechea, Nikita R. Dsouza, , Delia Yubero, Alfonso Oyarzábal, Montserrat Ruiz and 23 other authors

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

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Valentina Vélez-Santamaría, Edgard Verdura, Colleen Macmurdo, Laura Planas-Serra

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, Agatha Schlüter, Josefina Casas, Juan José Martínez, Carlos Casasnovas, Yue Si, Stephanie S. Thompson, Reza Maroofian, Aurora Pujol

Expanding the clinical and genetic spectrum of PCYT2-related disorders

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Marcos García-Howard, Mercedes Herranz-Aguirre, Laura Moreno-Galarraga, María Urretavizcaya-Martínez, Josune Alegría-Echauri, Nerea Gorría-Redondo, Laura Planas-Serra

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, Agatha Schlüter, Marta Gut, Aurora Pujol, Sergio Aguilera-Albesa

Case Report: Benign Infantile Seizures Temporally Associated With COVID-19

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Sara C. Reichert

ORCID

, Rachel Li, Richard H. van Jaarsveld, Scott A. Turner, Marie‐José H. van den Boogaard, Scott Turner, Maarten P. G. Massink, Richard H. Jaarsveld, Marie‐José H. Boogaard, Mireia Toro, Agustí Rodríguez‐Palmero

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, Stéphane Fourcade, Agatha Schlüter, Laura Planas‐Serra

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, Aurora Pujol and 8 other authors

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

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Qian Zhang, Menno D. de Jong, Qinhua Zhou, Q. Zhang, Rui Yang, B. Boisson, Ji Eun Han, Aileen Camille Ugurbil, S. Boisson-Dupuis, A. Puel, Tom Le Voyer, S.-Y. Zhang, Béziat, Peng Zhang, Saeed Al Turki and 804 other authors

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

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Lindsey B. Rosen, Qian Zhang, Y. Zhang, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Shen-Ying Zhang, Karim Dorgham, Quentin Philippot, Jérémie Rosain

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, Jérémy Manry, Elana Shaw

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, Liis Haljasmägi, Pärt Peterson, Lazaro Lorenzo, Sophie Trouillet-Assant and 744 other authors

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

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