Montserrat Ruiz (Montse Ruiz)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 6

Top Topics

Parkinson Disease

Mitochondrial Dna

Top Venues

Movement disorders : official journal of the Movement Disorder Society

Nature communications

Journal of clinical immunology

Annals of clinical and translational neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, Georg Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B Haack, Paul J Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions. Nature communications 15 (1) (2024)
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, Georg Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B Haack, Paul J Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions. Nature communications 15 (1) (2024)
Jesús Troya García, Paul Bastard, Laura Planas-Serra, Pablo Ryan-Murua, Montserrat Ruiz, María de Carranza, Juan Torres-Macho, Amalia Martínez, Laurent Abel, Jean Laurent Casanova, Aurora Pujol
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain. Journal of clinical immunology 41 (5) (2021)
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, Irene Catalina, Emma Sola, Elena Martínez-Sáez, Aurora Pujol, Montserrat Ruiz, Agatha Schlüter, Antonella Spinazzola, Jose Luis Muñoz-Blanco, Francisco Grandas, Ian Holt, Victoria Álvarez, Adolfo López de Munaín
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion". Movement disorders : official journal of the Movement Disorder Society 34 (12) (2020)
Agustín Rodriguez-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
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy. Annals of clinical and translational neurology 7 (9) (2020)
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, Irene Catalina, Emma Sola, Elena Martínez-Sáez, Aurora Pujol, Montserrat Ruiz, Agatha Schlüter, Antonella Spinazzola, Jose Luis Muñoz-Blanco, Francisco Grandas, Ian Holt, Victoria Álvarez, Adolfo López de Munaín
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. Movement disorders : official journal of the Movement Disorder Society 34 (10) (2019)