Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease

Autor: Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F. Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Kay, Hector Garcia-Moreno, Paola Giunti, Magda M. Santana, Luis Pereira de Almeida, Jon Infante, Bart P. van de Warrenburg, Jeroen J. de Vries, Jennifer Faber, Thomas Klockgether, Nicolas Casadei, Jakob Admard, Ludger Schöls, Olaf Riess, Maria do Carmo Costa, Manuela Lima

Publikováno v: Neurobiology of Disease, Vol 193, Iss , Pp 106456- (2024)

Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is a heritable proteinopathy disorder, whose causative gene, ATXN3, undergoes alternative splicing. Ataxin-3 protein isoforms differ in their toxicity, suggesting that certain ATXN3 sp

Externí odkaz: https://doaj.org/article/55040c47afa6470abe2d27e0791d4080

Differential serum microRNAs in premotor LRRK2 G2019S carriers from Parkinson’s disease

Autor: Marta Soto, Manel Fernández, Paloma Bravo, Sara Lahoz, Alicia Garrido, Antonio Sánchez-Rodríguez, María Rivera-Sánchez, María Sierra, Paula Melón, Ana Roig-García, Anna Naito, Bradford Casey, Jordi Camps, Eduardo Tolosa, María-José Martí, Jon Infante, Mario Ezquerra, Rubén Fernández-Santiago

Publikováno v: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)

Abstract The LRRK2 G2019S pathogenic mutation causes LRRK2-associated Parkinson’s disease (L2PD) with incomplete penetrance. LRRK2 non-manifesting carriers (L2NMC) are at PD high risk but predicting pheno-conversion is challenging given the lack of

Externí odkaz: https://doaj.org/article/fc4ea8c201b04435b88fd67d9335edac

In vivo cholinergic basal forebrain degeneration and cognition in Parkinson's disease: Imaging results from the COPPADIS study

Autor: Grothe, Michel J., Labrador-Espinosa, Miguel A., Jesús, Silvia, Macías-García, Daniel, Adarmes-Gómez, Astrid, Carrillo, Fátima, Camacho, Elena Iglesias, Franco-Rosado, Pablo, Lora, Florinda Roldán, Martín-Rodríguez, Juan Francisco, Barberá, Miquel Aguilar, Pastor, Pau, Arroyo, Sonia Escalante, Vila, Berta Solano, Foraster, Anna Cots, Martínez, Javier Ruiz, Padilla, Francisco Carrillo, Morlans, Mercedes Pueyo, Aramburu, Isabel González, Ceberio, Jon Infante, Vara, Jorge Hernández, de Fábregues-Boixar, Oriol, de Deus Fonticoba, Teresa, Pascual-Sedano, Berta, Kulisevsky, Jaime, Martínez-Martín, Pablo, Santos-García, Diego, Mir, Pablo

Publikováno v: In Parkinsonism and Related Disorders July 2021 88:68-75

Very early Guillain-Barré syndrome: A clinical-electrophysiological and ultrasonographic study

Autor: José Berciano, Pedro Orizaola, Elena Gallardo, Ana L. Pelayo-Negro, Pascual Sánchez-Juan, Jon Infante, María J. Sedano

Publikováno v: Clinical Neurophysiology Practice, Vol 5, Iss , Pp 1-9 (2020)

Objectives: Using recent optimized electrodiagnostic criteria sets, we primarily aimed at verifying the accuracy of the initial electrophysiological test in very early Guillain-Barré syndrome (VEGBS), ≤4 days of onset, compared with the results of

Externí odkaz: https://doaj.org/article/38b120c5a66f4199882261b4fc8e5269

Multicentre, randomised, single-blind, parallel group trial to compare the effectiveness of a Holter for Parkinson’s symptoms against other clinical monitoring methods: study protocol

Autor: Juan Carlos Martinez-Castrillo, Maria Alvarez, Dolores Vilas, Ernest Balaguer, Ignacio Alvarez, Jon Infante, Silvia Jesús, Marina Mata, Pablo Mir, Pau Pastor, María Sierra, Lydia Vela, Isabel Gonzalez, Ana Rita Santos, Daniel Lopez, Antonio Hernández, Francisco Perez, Nuria Caballol, Antonio Salvador, Judith Jimenez, Alejandro Rodríguez-Molinero, Jorge Hernández-Vara, Antonio Miñarro, Carlos Pérez-López, Àngels Bayes-Rusiñol, David A Pérez-Martínez, Anna Planas-Ballvé, Mariateresa Buongiorno, Núria López, Mª Isabel Morales, Gema Sánchez, María Asunción Ávila, Anna Prats, Alexandre Gironell, Álvaro Sánchez-Ferro, Antonio Méndez, Elisabet Franquet, Sonia Escalante, Laura Muñoz-Delgado, Daniel Macías-García, Astrid Adarmes-Gómez, José Mª Salom, Silvia Martí, Carlos Leiva, Victor M. Puente, Irene Navalpotro, Sara Lucas, Antonio Koukoulis, Mª Gema Alonso, Mª Esther Cubo, Mª Victoria Sánchez, Carmen Borrúe, Mª Concepción Jimeno, Mª José Gómez, Lina Carazo, Alfredo López, Mª Pilar Solís, Rubén Alonso, Jessica González, Javier Ruiz, Ana Vinagre, Ioana Croitoru, Pilar Sánchez, Elisa Gamo, Sabela Novo, Esteban Peña, Esther Blanco, Rafael García, José López, Teresa Muñoz, Lucía Flores, Rocío García-Ramos, Eva López, Lourdes Ispierto, Ramiro Álvarez, Esther Catena, Berta Solano, Anna Cots, Lydia López Manzanares, Marta Recio-Bermejo

Publikováno v: BMJ Open, Vol 11, Iss 7 (2021)

Introduction In recent years, multiple studies have aimed to develop and validate portable technological devices capable of monitoring the motor complications of Parkinson’s disease patients (Parkinson’s Holter). The effectiveness of these monito

Externí odkaz: https://doaj.org/article/fd3438f87c0a4f889a7069c57d6375b5