BERTA ALEMANY PERNA

Projectes

Neurodegeneració i Neuroinflamació

Terapia Génica para la Ataxia de Friedreich

Codi oficial: CPP2023-010463 Data inici: 01/09/2024 Data fi: 31/08/2027 Investigador/a principal: BERTA ALEMANY PERNA Organisme finançador: MINISTERIO DE ECONOMIA E INNOVACION

Publicacions

Neurodegeneració i Neuroinflamació

López Domínguez D, Alemany Perna B, Álvarez Bravo G

Late-onset chorea as first manifestation of cerebral amyloid angiopathy.

PARKINSONISM & RELATED DISORDERS, 2025, 131, 107225-107225 dx.doi.org/10.1016/j.parkreldis.2024.107225

Trastorns del neurodesenvolupament , Neurodegeneració i Neuroinflamació

Genís, D, Alemany, B, Pellerin, D, Brais, B, Dicaire, MJ, Volpini, V, Campos, B, Corral, J, Gardenyes, J, de Jorge, L, San Nicolás, H, Buxó, M, Sancho, JM, Obon, M, Roig, C, Rodriguez-Revenga, L, Alvarez-Mora, MI, Danzi, MC, Houlden, H, Zuchner, S, Márquez, F, Torrenta, LRI

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

JOURNAL OF NEUROLOGY, 2025, 272, 235-235 dx.doi.org/10.1007/s00415-025-12964-x

Neurodegeneració i Neuroinflamació

Serrano-Munuera C, Martínez-Regueiro R, Martínez Fernández EM, Alemany Perna B, López Domínguez D, Rojas-Bartolomé L, Gómez AA, Pérez Torre P, Abenza Abildúa MJ, Rouco Axpe I, Feria-Vilar I, Pérez Pérez J, Schmahmann JD, García-Sánchez C

Validation of the Spanish version of the cerebellar cognitive-affective syndrome scale.

CLINICAL NEUROPSYCHOLOGIST, 2025, 1-17 dx.doi.org/10.1080/13854046.2025.2488453

Neurodegeneració i Neuroinflamació

Alemany-Perna, B, Tamarit, J, Cabiscol, E, Delaspre, F, Miguela, A, Huertas-Pons, JM, Quiroga-Varela, A, Ruiz, MM, Dominguez, DL, Torrenta, L, Genis, D, Ros, J

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients

MOVEMENT DISORDERS, 2024, 39, 1099-1108 dx.doi.org/10.1002/mds.29808

Trastorns del neurodesenvolupament , Neurodegeneració i Neuroinflamació , Genètica Cardiovascular

Mademont-Soler I, Esteba-Castillo S, Jiménez-Xifra A, Alemany B, Ribas-Vidal N, Cutillas M, Coll M, Pinsach ML, Pagans S, Alcalde M, Viñas-Jornet M, Montero-Vale M, de Castro-Miró M, Rodríguez J, Armengol L, Queralt X, Obón M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Molecular genetics & genomic medicine, 2024, 12, 2475-2475 dx.doi.org/10.1002/mgg3.2475

Trastorns del neurodesenvolupament , Neurodegeneració i Neuroinflamació

Mademont-Soler, I, Esteba-Castillo, S, Nieto-Moragas, J, Alemany, B, Rodríguez, J, de Castro-Miró, M, Montero-Vale, MM, Cherino, A, Cutillas, M, Armengol, L, Queralt, X, Obón, M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32, 210-211

Neurodegeneració i Neuroinflamació

Alemany-Perna, B, Tamarit, J, Cabiscol, E, Ros, J

Reply to: "Calcitriol in Friedreich Ataxia"

MOVEMENT DISORDERS, 2024, 39, 1654-1655 dx.doi.org/10.1002/mds.29971

Neurodegeneració i Neuroinflamació

Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

Neurologia, 2023, 38, 379-386 dx.doi.org/10.1016/j.nrleng.2023.04.003

Patologia Cerebrovascular , Neurodegeneració i Neuroinflamació , Hematologia

Garcia-Tornel A, Millan M, Rubiera M, Bustamante A, Requena M, Dorado L, Olivé-Gadea M, Jiménez X, Soto A, Querol M, Hernández-Pérez M, Gomis M, Cardona P, Urra X, Purroy F, Silva Y, Ustrell X, Esteve P, Salvat-Plana M, Gallofré M, Molina C, Dávalos A, Jovin T, Abilleira S, Ribo M, Pérez de la Ossa N

Workflows and Outcomes in Patients With Suspected Large Vessel Occlusion Stroke Triaged in Urban and Nonurban Areas.

Stroke, 2022, 53, 3728-3740 dx.doi.org/10.1161/STROKEAHA.122.040768

Patologia Cerebrovascular , Neurodegeneració i Neuroinflamació

Calvó-Perxas L, Belchí O, Turon-Estrada A, Van Eendenburg C, Linares M, Viñas M, Manzano A, Turró-Garriga O, Vilalta-Franch J, Garre-Olmo J

Incidence and characteristics of uncommon dementia subtypes: Results from 10 years of clinical surveillance by the Registry of Dementia of Girona

ALZHEIMERS & DEMENTIA, 2019, 15, 917-926 dx.doi.org/10.1016/j.jalz.2019.03.017

Directori

Projectes

Publicacions

Late-onset chorea as first manifestation of cerebral amyloid angiopathy.

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

Validation of the Spanish version of the cerebellar cognitive-affective syndrome scale.

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Reply to: "Calcitriol in Friedreich Ataxia"

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

Workflows and Outcomes in Patients With Suspected Large Vessel Occlusion Stroke Triaged in Urban and Nonurban Areas.

Incidence and characteristics of uncommon dementia subtypes: Results from 10 years of clinical surveillance by the Registry of Dementia of Girona

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