Agusti Rodriguez-Palmero Seuma - Dissemin

Dissemin is shutting down on January 1st, 2025

Language
Login

All papers authored by Agusti Rodriguez-Palmero Seuma

This paper is made freely available by the publisher.

2023 Nathalie Launay

ORCID

, Montserrat Ruiz

ORCID

, Laura Planas-Serra

ORCID

, Edgard Verdura

ORCID

, Agustí Rodríguez-Palmero

ORCID

, Agatha Schlüter, Leire Goicoechea

ORCID

, Cristina Guilera

ORCID

, Josefina Casas

ORCID

, Felix Campelo

ORCID

, Emmanuelle Jouanguy, Jean-Laurent Casanova

ORCID

, Odile Boespflug-Tanguy

ORCID

, Maria Vazquez Cancela, Luis González Gutiérrez-Solana and 3 other authors

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

Download from doi.org

This paper is made freely available by the publisher.

2022 Emma Koehorst, Daniel Natera de Benito, Renato Odria, Júlia Capó

ORCID

, Judit Núñez-Manchón, Andrea Arbex, Miriam Almendrote, Ian Linares-Pardo, Daniel Natera-De Benito

ORCID

, Verónica Saez, Andrés Nascimento, Carlos Ortez

ORCID

, Miguel Ángel Rubio, Jordi Díaz-Manera, Jorge Alonso-Pérez

ORCID

and 6 other authors

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

Download from doi.org

This paper was not found in any repository, but could be made available legally by the author.

Agatha Schlüter, Agustí Rodríguez-Palmero

ORCID

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

ORCID

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

ORCID

, 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

Upload

This paper is made freely available by the publisher.

María González del Pozo, Lourdes Rodríguez de Rosa, M. del Río, Sara Benito Sanz, Francesc Bou Pieri, Alfonso Oyarzabal Sanz, Marcela Río, L. A. Pérez-Jurado, Fe García Santiago, Lucía Martínez Santamaría, Mar O'Callaghan, Joan Antón Puig-Butille, Paula Río, Juan Carlos Rodriguez-Aguilera, Beatriz Morte and 410 other authors

CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative

Download from onlinelibrary.wiley.com

This paper was not found in any repository, but could be made available legally by the author.

2021 Matthew P. Wilson

ORCID

, Alejandro Garanto, Filippo Pinto e. Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis and 20 other authors

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Upload

This paper was not found in any repository, but could be made available legally by the author.

Irit Hochberg, Leigh A. M. Demain, Julie Richer, Kyle Thompson, Jill E. Urquhart, Alessandro Rea, Waheeda Pagarkar, Agustí Rodríguez-Palmero

ORCID

, Agatha Schlüter, Edgard Verdura, Aurora Pujol, Pilar Quijada-Fraile, Albert Amberger, Andrea J. Deutschmann, Sandra Demetz and 25 other authors

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Upload

This paper is made freely available by the publisher.

Edgard Verdura, Agustí Rodríguez-Palmero

ORCID

, Valentina Vélez-Santamaria, Laura Planas-Serra

ORCID

, Irene de la Calle, Miquel Raspall-Chaure

ORCID

, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini

ORCID

, Lisa Pavinato

ORCID

, 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

Download from academic.oup.com

This paper was not found in any repository, but could be made available legally by the author.

Şadiye Kübra Tüter Öz, Eric d’Ortenzio, Fanny Onodi, Daniela Matuozzo

ORCID

, Marcela Moncada Velez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Silvia Patricia Zuniga Veliz, Laurent Meertens, Tom Le Voyer, Yu Zhang, Marie Materna, Sarantis Korniotis, Agusti Rodriguez-Palmero Seuma

ORCID

, Estelle Talouarn and 905 other authors

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

Upload

This paper was not found in any repository, but could be made available legally by the author.

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 1135 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.

Upload

This paper is made freely available by the publisher.

Vanessa Sancho Shimizu, Vanessa Sancho Shimizu, Julie Toubiana, Henrickson Se, Aurora Pujol, Carrie L. Lucas, Agatha Schlüter, Juan Valencia-Ramos, Rebeca Perez De Diego, Tangye Sg, Jacques G. Rivière, Pere Soler-Palacin, Carlos Rodriguez-Gallego, Şadiye Kübra Tüter Öz, Zhang Sy and 147 other authors

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

Download from rupress.org

This paper is made freely available by the publisher.

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

ORCID

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

ORCID

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

ORCID

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

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

Download from doi.org

This paper was not found in any repository, but could be made available legally by the author.

Agustí Rodríguez-Palmero

ORCID

, David Gómez-Andrés, Íñigo Marcos-Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stella A. de Man, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García-Miñaúr, Tracy Gertler, Elisa Giorgio, Maria Johansson Soller, Nicolas Gruchy and 71 other authors

DLG4-related synaptopathy: a new rare brain disorder

Upload

This paper is made freely available by the publisher.

2020 Àngels García-Cazorla, Edgard Verdura, Natalia Juliá-Palacios, Enkhtuul Tsogtbaatar, Eric N. Anderson, Agatha Schlüter, Leire Goicoechea

ORCID

, Roser Urreizti, Jessica M. Tarnowski, Nikita R. Dsouza, Laura Planas-Serra

ORCID

, , Alfonso Oyarzábal, Ralitza H. Gavrilova, Mireia del Toro and 24 other authors

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

Download from link.springer.com

This paper was not found in any repository; the policy of its publisher is unknown or unclear.

P. Bastard, Q. Zhang, Rosen Lb, E. Michailidis, Y. Zhang, Hoffmann Hh, K. Dorgham, Agusti Rodriguez-Palmero Seuma

ORCID

, Q. Philippot, J. Rosain, V. Béziat, J. Manry, E. Shaw, L. Haljasmägi, Casanova Jl and 1 other authors

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

Upload

This paper is made freely available by the publisher.

Agustí Rodríguez‐Palmero

ORCID

, Agatha Schlüter

ORCID

, Edgard Verdura

ORCID

, Montserrat Ruiz

ORCID

, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas

ORCID

, Gérald Le Gac

ORCID

, Stéphane Fourcade

ORCID

ORCID

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

Download from api.wiley.com

This paper is made freely available by the publisher.

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

ORCID

, Stéphane Fourcade, Agatha Schlüter, Laura Planas‐Serra

ORCID

, Aurora Pujol and 8 other authors

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

Download from api.wiley.com

This paper was not found in any repository, but could be made available legally by the author.

Inga Harting

ORCID

, Murtadha Al-Saady

ORCID

, Ingeborg Krägeloh-Mann

ORCID

ORCID

ORCID

, Tatjana Bierhals

ORCID

, Stephanie Karch

ORCID

, Ute Moog

ORCID

, Geneviève Bernard

ORCID

, Richard Huntsman

ORCID

, Rosalina M. L. van Spaendonk

ORCID

, Maaike Vreeburg

ORCID

, Agustí Rodríguez-Palmero

ORCID

ORCID

, Marjo S. van der Knaap

ORCID

and 2 other authors

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Upload

This paper was not found in any repository, but could be made available legally by the author.

Venneri, G. Zanelli, A. Verzuri, S. Venturelli, A. Vergori, Vélez-Santamaria, J. Villar, I. Zanella, P. Zucchi, Margherita Baldassarri, Nicola Picchiotti, S. Croci, Francesca Fava, F. Sciarra, U. Pagotto and 151 other authors

Shorter Androgen Receptor PolyQ Alleles Protect Against Life-Threatening COVID-19 Disease in Males

Upload

This paper is made freely available by the publisher.

Qian Zhang, Agusti Rodriguez-Palmero Seuma, Jérémie Le Pen, Paul Bastard, Zhiyong Liu, Marcela Moncada-Velez, Shen-Ying Zhang, Jie Chen, Masato Ogishi, J. Gonzalo Ocejo-Vinyals, Ira K. D. Sabli, Yu Zhang, Jérémie Rosain, Y. Zhang, Cecilia Korol and 707 other authors

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

Download from publications.aap.org

This paper was not found in any repository, but could be made available legally by the author.

Lindsey B. Rosen, Y. Zhang, Shen-Ying Zhang, S.-Yu Zhang, Adriana Almeida de Jesus, A. M. van Den Rym, C. da Silveira, Hans-Heinrich Hoffmann, Pärt Peterson, Lazaro Lorenzo, Sophie Trouillet-Assant, Diederik van de Beek, Kerry Dobbs, A. H. (Koos) Zwinderman, Anne Kallaste and 705 other authors

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

Upload

Missing publications? Search for publications with a matching author name.