Edoardo Malfatti

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Topics

Low Density Lipoprotein

Duchenne Muscular Dystrophy

Pulmonary Embolism

Top Venues

Neurology(R) neuroimmunology & neuroinflammation

Acta neuropathologica

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

Publications

Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon
The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis. Biomolecules 14 (8) (2024)
Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Flavie Ader, Corinne Thèze, Pascal Cintas, Claude Cances, Robert-Yves Carlier, Corinne Métay, Mireille Cossee, Edoardo Malfatti
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability. Biomedicines 12 (2) (2024)
Laura Llansó, Alba Segarra-Casas, Cristina Domínguez-González, Edoardo Malfatti, Solange Kapetanovic, Benjamín Rodríguez-Santiago, Oscar de la Calle, Rosa Blanco, Amelia Dobrescu, Andrés Nascimento-Osorio, Andrés Paipa, Aurelio Hernandez-Lain, Cristina Jou, Anaís Mariscal, Laura González-Mera, Ana Arteche, Cinta Lleixà, Marta Caballero-Ávila, Álvaro Carbayo, Ana Vesperinas, Luis Antonio Querol-Gutiérrez, Eduard Gallardo, Montse Olivé
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy. Neurology(R) neuroimmunology & neuroinflammation 11 (5) (2024)
Mónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus, Xabier Bengoetxea, Andrés Jiménez, Amaia Elicegui, María Levchuk, Olatz Arnold-Garcia, Jon Ondaro, Pablo Iruzubieta, Laura Rodríguez-Gómez, Uxoa Fernandez-Pelayo, Mikel Muñoz-Oreja, Ana Aiastui, Jose Manuel García-Verdugo, Vicente Herranz-Pérez, Miren Zulaica, Juan Jose Poza, Rebeca Ruiz-Onandi, Roberto Fernández-Torrón, Juan Bautista Espinal, Mario Bonilla, Ana Lersundi, Gorka Fernández-Eulate, Javier Riancho, Ainara Vallejo-Illarramendi, Ian James Holt, Amets Sáenz, Edoardo Malfatti, Stephanie Duguez, Lorea Blazquez, Adolfo Lopez de Munain, Gorka Gerenu, Francisco Gil-Bea, Sonia Alonso-Martin
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis. Acta neuropathologica 148 (1) (2024)
Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Flavie Ader, Corinne Thèze, Pascal Cintas, Claude Cances, Robert-Yves Carlier, Corinne Métay, Mireille Cossee, Edoardo Malfatti
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability. Biomedicines 12 (2) (2024)
Laura Llansó, Alba Segarra-Casas, Cristina Domínguez-González, Edoardo Malfatti, Solange Kapetanovic, Benjamín Rodríguez-Santiago, Oscar de la Calle, Rosa Blanco, Amelia Dobrescu, Andrés Nascimento-Osorio, Andrés Paipa, Aurelio Hernandez-Lain, Cristina Jou, Anaís Mariscal, Laura González-Mera, Ana Arteche, Cinta Lleixà, Marta Caballero-Ávila, Álvaro Carbayo, Ana Vesperinas, Luis Antonio Querol-Gutiérrez, Eduard Gallardo, Montse Olivé
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy. Neurology(R) neuroimmunology & neuroinflammation 11 (5) (2024)
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera-de Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A Kurbatov, Tania Attie-Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese
Inferring disease course from differential exon usage in the wide titinopathy spectrum. Annals of clinical and translational neurology (2024)
Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon
The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis. Biomolecules 14 (8) (2024)
Laura Llansó, Alba Segarra-Casas, Cristina Domínguez-González, Edoardo Malfatti, Solange Kapetanovic, Benjamín Rodríguez-Santiago, Oscar de la Calle, Rosa Blanco, Amelia Dobrescu, Andrés Nascimento-Osorio, Andrés Paipa, Aurelio Hernandez-Lain, Cristina Jou, Anaís Mariscal, Laura González-Mera, Ana Arteche, Cinta Lleixà, Marta Caballero-Ávila, Álvaro Carbayo, Ana Vesperinas, Luis Antonio Querol-Gutiérrez, Eduard Gallardo, Montse Olivé
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy. Neurology(R) neuroimmunology & neuroinflammation 11 (5) (2024)
Jantima Tanboon, Rasha El Sherif, Michio Inoue, Mariko Okubo, Edoardo Malfatti, Ichizo Nishino
A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging. Brain pathology (Zurich, Switzerland) (2023)
Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, Julien Buratti, Sophia Xirou, Margarita Chrysanthou-Piterou, Giorgos-Konstantinos Papadimas
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy. International journal of molecular sciences 24 (13) (2023)
Jon Andoni Urtizberea, Gianmarco Severa, Edoardo Malfatti
Metabolic Myopathies in the Era of Next-Generation Sequencing. Genes 14 (5) (2023)
Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B Romero, Ichizo Nishino, Edoardo Malfatti
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment. Acta neuropathologica communications 7 (1) (2019)