Zobrazeno 1 - 10
of 227
pro vyhledávání: '"Francesc Palau"'
Autor:
Marian León, Javier Prieto, María Micaela Molina-Navarro, Francisco García-García, Manuela Barneo-Muñoz, Xavier Ponsoda, Rosana Sáez, Francesc Palau, Joaquín Dopazo, Juan Carlos Izpisua Belmonte, Josema Torres
Publikováno v:
Cell Death Discovery, Vol 9, Iss 1, Pp 1-11 (2023)
Abstract Charcot-Marie-Tooth disease is a chronic hereditary motor and sensory polyneuropathy targeting Schwann cells and/or motor neurons. Its multifactorial and polygenic origin portrays a complex clinical phenotype of the disease with a wide range
Externí odkaz:
https://doaj.org/article/446c0345c22f4d3c9e1eea799b58997b
Autor:
Daniel Natera‐de Benito, Jonathan Olival, Carla Garcia‐Cabau, Cristina Jou, Mònica Roldan, Anna Codina, Jessica Expósito‐Escudero, Cristina Batlle, Laura Carrera‐García, Carlos Ortez, Xavier Salvatella, Francesc Palau, Andrés Nascimento, Janet Hoenicka
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 3, Pp 408-425 (2023)
Abstract Objective Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and adult‐onset muscular dystrophy. These conditions are adult‐onset diseases and result fr
Externí odkaz:
https://doaj.org/article/078decfbead04403a37de8b0a43ecdd4
Publikováno v:
Biology Open, Vol 12, Iss 4 (2023)
Externí odkaz:
https://doaj.org/article/63b307ab3ec94a078e071340ab5ba8dc
Autor:
Diana C. Muñoz-Lasso, Belén Mollá, Jhon J. Sáenz-Gamboa, Edwin Insuasty, Maria de la Iglesia-Vaya, Mark A. Pook, Federico V. Pallardó, Francesc Palau, Pilar Gonzalez-Cabo
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Computational techniques for analyzing biological images offer a great potential to enhance our knowledge of the biological processes underlying disorders of the nervous system. Friedreich’s Ataxia (FRDA) is a rare progressive neurodegenerative inh
Externí odkaz:
https://doaj.org/article/fcfaa47a9b894c7b992c0ad1f5f305dc
Autor:
Estela Pérez-Santamarina, Pedro García-Ruiz, Dolores Martínez-Rubio, Mario Ezquerra, Irene Pla-Navarro, Jorge Puente, María José Martí, Francesc Palau, Janet Hoenicka
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Parkinson’s disease (PD) is characterized by cerebral dopamine depletion that causes motor and cognitive deficits. The dopamine-related gene ANKK1 has been associated with neuropsychiatric disorders with a dopaminergic deficiency in the st
Externí odkaz:
https://doaj.org/article/b94e1e211a1843e58d9c48db44c76a82
Autor:
Fernando de Andrés-Nogales, Encarnación Cruz, Miguel Ángel Calleja, Olga Delgado, Maria Queralt Gorgas, Jaime Espín, Jorge Mestre-Ferrándiz, Francesc Palau, Alba Ancochea, Rosabel Arce, Raquel Domínguez-Hernández, Miguel Ángel Casado, the FinMHU-MCDA Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Patient access to orphan medicinal products (OMPs) is limited and varies between countries, reimbursement decisions on OMPs are complex, and there is a need for more transparent processes to know which criteria should be considere
Externí odkaz:
https://doaj.org/article/f85264c342f74e2da56756f60e5f74ec
Autor:
Jordi Pijuan, Lara Cantarero, Daniel Natera-de Benito, Arola Altimir, Anna Altisent-Huguet, Yaiza Díaz-Osorio, Laura Carrera-García, Jessica Expósito-Escudero, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane in the cell thus impacting cellular
Externí odkaz:
https://doaj.org/article/3a03756d74614ebeae12da4fa75aa338
Autor:
Diana C. Muñoz-Lasso, Belén Mollá, Pablo Calap-Quintana, José Luis García-Giménez, Federico V. Pallardo, Francesc Palau, Pilar Gonzalez-Cabo
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Abstract Abnormalities in actin cytoskeleton have been linked to Friedreich’s ataxia (FRDA), an inherited peripheral neuropathy characterised by an early loss of neurons in dorsal root ganglia (DRG) among other clinical symptoms. Despite all effort
Externí odkaz:
https://doaj.org/article/1c2e1b48290849ff8db4190d1f6da79c
Autor:
Estela Pérez‑Santamarina, Pedro García‑Ruiz, Dolores Martínez‑Rubio, Mario Ezquerra, Irene Pla‑Navarro, Jorge Puente, María José Martí, Francesc Palau, Janet Hoenicka
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/714fa5d0d0674e93a64ec2eacb44e8b3
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 13, p 7176 (2022)
There are challenges in the genetic diagnosis of rare diseases, and pursuing an optimal strategy to identify the cause of the disease is one of the main objectives of any clinical genomics unit. A range of techniques are currently used to characteriz
Externí odkaz:
https://doaj.org/article/8a39e0ffd31e4d4aaf4c677237161f35