NEURODEGENERATIVE DISEASES RESEARCH GROUP

Publications

Introducing PIGMO, a novel PIGmented MOuse model of Parkinson’s disease


Authors: Chocarro J, Marana S, Espelosin M, Rico AJ, Ariznabarreta G, Lorenzo-Ramos E, Ilarduya MM, Hernandez-Alcoceba R, Chillón M, Vila M, Kordower JH, Schapira AHV, Garcia-Osta A, Cuadrado-Tejedor MDM, Lanciego JL
Journal: npj Parkinsons Dis
Reference: 12, 72
Year: 2026
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Age-dependent progression from clearance to vulnerability in the early response of periventricular microglia to α-synuclein toxic species


Authors: Sirerol-Piquer MS, Perez-Villalba A, Duart-Abadia P, Belenguer G, Gómez-Pinedo U, Blasco-Chamarro L, Carrillo-Barberà P, Pérez-Cañamás A, Navarro-Garrido V, Dehay B, Vila M, Vitorica J, Pérez-Sánchez F, Fariñas I
Journal: Molecular Neurodegeneration
Reference: 20(1):26
Year: 2025
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Autophagy beyond Earth: Dr. Ghada Alsaleh on aging, cells, and space


Authors: Mari M, Martinez-Vicente M
Journal: Autophagy
Reference: Dec 29:1-3
Year: 2025
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Chaperone-mediated autophagy sustains muscle stem cell regenerative functions but declines with age


Authors: Ramírez-Pardo I, Campanario S, Chavda B, Santiago-Fernández O, Flández M, Grima-Terrén M, Cisneros A, Calls-Cobos A, Itzhak DN, Ngo B, Janaki-Raman S, Kantz ED, Ortet L, Diaz A, Lindenau K, Doménech-Fernández J, Gómez-Cabrera MC, Camafeita E, Vázquez J, Martinez-Vicente M, Serrano AL, Perdiguero E, Isern J, Cuervo AM, Muñoz-Cánoves P
Journal: Nature Metabolism
Reference: Dec;7(12):2571-2588
Year: 2025
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Differential pathological dynamics triggered by distinct Parkinson patient-derived α-synuclein extracts in nonhuman primates


Authors: Kinet R, Bourdenx M, Dovero S, Darricau M, Arotcarena ML, Camus S, Porras G, Thiolat ML, Trigo-Damas I, Bohic S, Morari M, Doudnikoff E, Goikoetxea M, Claverol S, Tokarski C, Kruse N, Mollenhauer B, Estrada C, Garcia-Carrillo N, Herrero MT, Vila M, Obeso JA, Bezard E, Dehay B.
Journal: Science Advances
Reference: 11(25):eadu6050
Year: 2025
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Dysfunctional LHX6 pallido-subthalamic projections mediate epileptic events in a mouse model of Leigh Syndrome


Authors: Sánchez-Benito L, González-Torres M, Fernández-González I, Cutando L, Royo M, Compte J, Vila M, Jurado S, Sanz E, Quintana A
Journal: Journal of Clinical Investigation
Reference: 135(23):e187571
Year: 2025
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Longitudinal neuromelanin changes in prodromal and early Parkinson’s disease in humans and rat model


Authors: Pérot JB, Ruze A, Gaurav R, Rebbah S, Cadin C, Le Troter A, Soustelle L, Mouton L, Valabrègue R, Parent A, Mangone G, Lejeune FX, Arnulf I, Corvol JC, Vidailhet M, Santin MD, Vila M, Lehéricy S.
Journal: Brain Communications
Reference: 7(3):fcaf204
Year: 2025
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LRRK2-mutant microglia and neuromelanin synergize to drive dopaminergic neurodegeneration in an iPSC-based Parkinson’s disease mode


Authors: Blasco-Agell L, Pons-Espinal M, Testa V, Roch G, Montero-Muñoz J, Fernandez-Carasa I, Baruffi V, Gonzalez-Sepulveda M, Richaud-Patin Y, Jimenez S, Cuadros T, Cladera-Sastre JM, Compte J, Manglano-Artuñedo Z, Ventura S, Juan-Otero M, Tolosa E, Raya A*, Vila M*, Consiglio A*
Journal: Communications Biology
Reference: 8(1):1203
Year: 2025
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Neuromelanin and selective neuronal vulnerability to Parkinson’s disease


Authors: Filimontseva A, Fu Y, Vila M, Halliday GM
Journal: Trends in Neurosciences
Reference: 48(6):445-459
Year: 2025
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Neuromelanin: Bridging catecholamine metabolism and neurodegeneration in Parkinson’s disease


Authors: Gonzalez-Sepulveda M, Cladera-Sastre JM, Vila M
Journal: Behavioral Neuroscience
Reference: 35, 21-42
Year: 2025
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Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease


Authors: Kinet R, Sikora J, Arotcarena ML, Decourt M, Balado E, Doudnikoff E, Bohic S, Thiolat ML, Dutheil N, Mazzocco C, Harhouri K, Steinschneider R, Menoret S, Tesson L, Anegon I, Morari M, Vila M, Georges F, Bezard E, Fernagut PO, Dehay B
Journal: NPJ Parkinson’s Disease
Reference: 11(1):321
Year: 2025
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Single-cell transcriptomics for immune profiling of cerebrospinal fluid in neurological diseases


Authors: Ramos-Vicente D, Monterosso P, de Fàbregues O, Roch G, Vila M, Bové J
Journal: Frontiers in Immunology
Reference: 16:1599303
Year: 2025
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Standardised TruAI automated quantification of intracellular neuromelanin granules in human brain tissue sections


Authors: Filimontseva A, Cuadros T, Chatterton Z, Burke A, Mahabadian AA, Compte J, Fu Y, Vila M*, Halliday GM*
Journal: Neuropathology and Applied Neurobiology
Reference: 51(4):e70033
Year: 2025
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Systematic Assessment of Matrix Effect, Recovery, and Process Efficiency Using Three Complementary Approaches: Implications for LC-MS/MS Bioanalysis Applied to Glucosylceramides in Human Cerebrospinal Fluid


Authors: Castillo-Ribelles L, Arranz-Amo JA, Hernandez-Vara J, Ferrer-Costa R, Martínez-Vicente M*, Carnicer-Caceres C*
Journal: ACS Omega
Reference: 29;10(44):52449-52458
Year: 2025
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The Human Microglia Atlas (HuMicA) Unravels Changes in Homeostatic and Disease-Associated Microglia Subsets across Neurodegenerative Conditions


Authors: Ricardo Martins-Ferreira, Josep Calafell-Segura, Bárbara Leal, Javier Rodríguez-Ubreva, Elena Martínez-Saez, Elisabetta Mereu, Paulo Pinhoe Costa, Ariadna Laguna and Esteban Ballestar
Journal: Nature Communications
Reference: 16, 739
Year: 2025
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ZSCAN21 mediates the pathogenic transcriptional induction of α-synuclein in cellular and animal models of Parkinson’s disease


Authors: Kozoriz A, Mora S, Damiano MA, Carballo-Carbajal I, Parent A, Kumarasinghe L, Vila M, Lassot I, Desagher S
Journal: Cell Death & Disease
Reference: 16(1):394
Year: 2025
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Autophagy and Protein Quality Control in Parkinson’s Disease


Authors: Martinez-Vicente M, Vila M
Journal: Cold Spring Harb Perspect Med
Reference: Dec 18:a041619
Year: 2024
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Basic Science in Movement Disorders: Fueling the Engine of Translation into Clinical Practice


Authors: Outeiro TF, Kalia LV, Bezard E, Ferrario J, Lin CH, Salama M, Standaert DG, Taiwo L, Takahashi R, Vila M, Mollenhauer B, Svenningsson P
Journal: Movement Disorders
Reference: 39(6):929-933
Year: 2024
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Clusterin deficiency is associated with a lack of response to teriflunomide in multiple sclerosis


Authors: Malhotra S, Fissolo N, Rodríguez-Rivera C, Monreal E, Montpeyo M, Urcelay E, Triviño JC, Pérez-García MJ, Segura MF, Pappolla A, Río J, Vilaseca A, Fernández Velasco JI, Miguez A, Goicoechea C, Martinez-Vicente M, Villar LM, Montalban X, Comabella M
Journal: Clin Transl Med.
Reference: Apr;14(4):e1654
Year: 2024
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CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants


Authors: Lerche S, Wurster I, Valente EM, Avenali M, Samaniego D, Martínez-Vicente M, Hernández-Vara J, Laguna A, Sturchio A, Svenningsson P, France NP, Barlow C, Sankaranarayanan S, Brockmann K
Journal: NPJ Parkinsons Dis
Reference: Oct 24;10(1):198
Year: 2024
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Developing Allosteric Chaperones for GBA1-Associated Disorders-An Integrated Computational and Experimental Approach


Authors: Montpeyo M, Pérez-Carmona N, Cubero E, Delgado A, Ruano A, Carrillo J, Bellotto M, Martinez-Vicente M, Garcia-Collazo AM
Journal: Int J Mol Sci
Reference: Dec 24;26(1):9
Year: 2024
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Endogenous interactomes of MFN1 and MFN2 provide novel insights into interorganelle communication and autophagy


Authors: Gordaliza-Alaguero I, Sànchez-Fernàndez-de-Landa P, Radivojevikj D, Villarreal L, Arauz-Garofalo G, Gay M, Martinez-Vicente M, Seco J, Martín-Malpartida P, Vilaseca M, Macías MJ, Palacin M, Ivanova S, Zorzano A.
Journal: Autophagy
Reference: Dec 24:1-22
Year: 2024
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Evaluation of a Liquid Chromatography-Tandem Mass Spectrometry Method for the Analysis of Glucosylceramide and Galactosylceramide Isoforms in Cerebrospinal Fluid of Parkinson’s Disease Patients


Authors: Castillo-Ribelles L, Arranz-Amo JA, Hernández-Vara J, Samaniego-Toro D, Enriquez-Calzada S, Pozo SL, Camprodon-Gomez M, Laguna A, Gonzalo MA, Ferrer R, Martinez-Vicente M, Carnicer-Caceres C
Journal: Anal Chem
Reference: Aug 6;96(31):12875-12882
Year: 2024
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Modelling human brain-wide pigmentation in rodents recapitulates age-related multisystem neurodegenerative deficits


Authors: Laguna A, Peñuelas N, Gonzalez-Sepulveda M, Nicolau A, Arthaud S, Guillard-Sirieix C, Lorente-Picón M, Compte J, Miquel-Rio L, Xicoy H, Liu J, Parent A, Cuadros T, Romero-Giménez J, Pujol G, Giménez-Llort L, Fort P, Bortolozzi A, Carballo-Carbajal I, Vila M
Journal: Nature Communications
Reference: 15(1):8819
Year: 2024
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The Role of Chaperone-Mediated Autophagy in Tissue Homeostasis and Disease Pathogenesis


Authors: Valdor R, Martinez-Vicente M
Journal: Biomedicines
Reference: Jan 23;12(2):257
Year: 2024
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Adult-specific Reelin expression alters striatal neuronal organization: implications for neuropsychiatric disorders


Authors: Pardo M, Gregorio S, Montalban E, Pujadas L, Elias-Tersa A, Masachs N, Vílchez-Acosta A, Parent A, Auladell C, Girault JA, Vila M, Nairn AC, Manso Y, Soriano E
Journal: Frontiers in Cellular Neuroscience
Reference: 17:1143319
Year: 2023
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Cortical Lewy body injections induce long-distance pathogenic alterations in the non-human primate brain


Authors: Teil M, Dovero S, Bourdenx M, Arotcarena ML, Darricau M, Porras G, Thiolat ML, Trigo-Damas I, Perier C, Estrada C, Garcia-Carrillo N, Herrero MT, Vila M, Obeso JA, Bezard E, Dehay B
Journal: NPJ Parkinson’s Disease
Reference: 9(1):135
Year: 2023
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Gene therapy with VMAT2 prevents Parkinson’s disease phenotype in humanized neuromelanin-producing rats


Authors: M. Gonzalez-Sepulveda, J. Compte, T. Cuadros, A. Nicolau, C. Guillard-Sirieix, N. Peñuelas, M. Lorente-Picón, J.Romero-Giménez, A. Parent, A. Laguna and M. Vila
Journal: Brain
Reference: Mar 1;146(3):1040-1052
Year: 2023
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In vivo reduction of age-dependent neuromelanin accumulation mitigates features of Parkinson’s disease


Authors: Gonzalez-Sepulveda M, Compte J, Cuadros T, Nicolau A, Guillard-Sirieix C, Peñuelas N, Lorente-Picon M, Parent A, Romero-Giménez J, Cladera-Sastre JM, Laguna A, Vila M.
Journal: Brain
Reference: 146(3):1040-1052
Year: 2023
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Investigating the impact of physical activity on mitochondrial function in Parkinson’s disease (PARKEX): Study protocol for A randomized controlled clinical trial


Authors: Magaña JC, Deus CM, Baldellou L, Avellanet M, Gea-Rodríguez E, Enriquez-Calzada S, Laguna A, Martínez-Vicente M, Hernández-Vara J, Giné-Garriga M, Pereira SP, Montane J.
Journal: PLoS One
Reference: Nov 22;18(11):e0293774
Year: 2023
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Neuromelanin accumulation drives endogenous synucleinopathy in non-human primates


Authors: Chocarro J, Rico AJ, Ariznabarreta G, Roda E, Honrubia A, Collantes M, Peñuelas I, Vázquez A, Rodríguez-Pérez AI, Labandeira-García JL, Vila M, Lanciego JL
Journal: Brain
Reference: 146(12): 5000-5014
Year: 2023
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Relevance of tissue‐resident memory CD8 T cells in the onset of Parkinson’s disease and examination of its possible etiologies: infectious or autoimmune?


Authors: de Fàbregues O, Sellés M, Ramos‐Vicente D, Roch G, Vila M, Bové J
Journal: Neurobiol Dis.
Reference: Oct 15;187:106308
Year: 2023
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Sex Differences in Motor and Non-Motor Symptoms Among Spanish Patients with Parkinson´s Disease


Authors: Diego Santos-García, Ariadna Laguna, Jorge Hernández-Vara, Teresa de Deus Fonticoba, Carlos Cores Bartolomé, Maria J Feal Painceiras, Maria Cristina Íñiguez-Alvarado, Iago García Díaz, Silvia Jesús, Maria Teresa Boungiorno, Lluís Planellas, Marina Cosgaya, Juan García Caldentey, Nuria Caballol, Ines Legarda, Iria Cabo, Lydia López Manzanares, Isabel González Aramburu, Maria A Ávila Rivera, Víctor Gómez Mayordomo, Víctor Nogueira, Víctor Puente, Julio Dotor García-Soto, Carmen Borrué, Berta Solano Vila, María Álvarez Sauco, Lydia Vela, Sonia Escalante, Esther Cubo, Francisco Carrillo Padilla, Juan C Martínez Castrillo, Pilar Sánchez Alonso, Maria G Alonso Losada, Nuria López Ariztegui, Itziar Gastón, Jaime Kulisevsky, Manuel Menéndez González, Manuel Seijo, Javier Rúiz Martínez, Caridad Valero, Mónica Kurtis, Jessica González Ardura, Ruben Alonso Redondo, Carlos Ordás, Luis M López Díaz, Darrian McAfee, Pablo Martinez-Martin, Pablo Mir,
Journal: Journal of Clinical Medicine
Reference: Feb 7;12(4):1329
Year: 2023
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The Consequences of GBA Deficiency in the Autophagy-Lysosome System in Parkinson’s Disease Associated with GBA


Authors: Pradas E, Martinez-Vicente M
Journal: Cells
Reference: Jan 3;12(1):191
Year: 2023
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Brain injections of glial cytoplasmic inclusions induce a multiple system atrophy-like pathology


Authors: Teil M, Dovero S, Bourdenx M, Arotcarena ML, Camus S, Porras G, Thiolat ML, Trigo-Damas I, Perier C, Estrada C, Garcia-Carrillo N, Morari M, Meissner WG, Herrero MT, Vila M, Obeso JA, Bezard E, Dehay B.
Journal: Brain
Reference: 145(3):1001-1017
Year: 2022
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Human α-synuclein overexpression in mouse serotonin neurons triggers a depressive-like phenotype. Rescue by oligonucleotide therapy


Authors: Miquel-Rio L, Alarcón-Arís D, Torres-López M, Cóppola-Segovia V, Pavia-Collado R, Paz V, Ruiz-Bronchal E, Campa L, Casal C, Montefeltro A, Vila M, Artigas F, Revilla R, Bortolozzi A
Journal: Translational Psychiatry
Reference: 12(1):79
Year: 2022
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Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology


Authors: Navarro-Romero A, Fernandez-Gonzalez I, Riera J, Montpeyo M, Albert-Bayo M, Lopez-Royo T, Castillo-Sanchez P, Carnicer-Caceres C, Arranz-Amo JA, Castillo-Ribelles L, Pradas E, Casas J, Vila M, Martinez-Vicente M.
Journal: NPJ Parkinson’s Disease
Reference: 8(1):126
Year: 2022
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Spontaneous changes in brain striatal dopamine synthesis and storage dynamics ex vivo reveal end-product feedback-inhibition of tyrosine hydroxylase


Authors: González-Sepúlveda M, Omar MY, Hamdon S, Ma G, Rosell-Vilar S, Raivio N, Abass D, Martínez-Rivas A, Vila M, Giraldo J, Carrascal M, Abián J, Gil C, Sabriá J, Ortiz J, Moreno-Delgado D.
Journal: Neuropharmacology
Reference: 212:109058
Year: 2022
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Bioinspired theranostic coordination polymer nanoparticles for intranasal dopamine-replacement in Parkinson’s disease


Authors: García-Pardo J, Novio F, Nador F, Cavaliere I, Suarez-Garcia S, Lope-Piedrafita S, Candiota AP, Romero J, Rodriguez B, Bove J, Vila M, Lorenzo-Rivera J, Ruiz-Molina D
Journal: ACS Nano
Reference: 15(5):8592-8609
Year: 2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)


Authors: Klionsky DJ, Vila M et al.
Journal:
Reference: 17(1):1-382
Year: 2021
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Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease


Authors: Franco-Iborra S, Montpeyó M, Plaza-Zabala A, Sebastian D, Vila M, Martinez-Vicente M.
Journal: Autophagy
Reference: 17(3):672-689
Year: 2021
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Nurr1 repression mediates cardinal features of Parkinson’s Disease in α-synuclein transgenic mice.


Authors: Argyrofthalmidou M, Spathis AD, Maniati M, Poula A, Katsianou MA, Sotiriou E, Manousaki M, Perier C, Papapanagiotou I, Papadopoulou-Daifoti Z, Pitychoutis PM, Alexakos P, Vila M, Stefanis L, Vassilatis DK.
Journal: Human Molecular Genetics
Reference: 30(16):1469-1483
Year: 2021
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Serum metabolic biomarkers for synucleinopathy conversion in isolated REM sleep behavior disorder.


Authors: Laguna A, Xicoy H, Tolosa E, Serradell M, Vilas D, Gaig C, Fernandez M, Yanes O, Santamaria J, Amigó N, Iranzo A, Vila M.
Journal: NPJ Parkinson’s Disease
Reference: 7(1):40
Year: 2021
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The CD200R1 microglial inhibitory receptor as a therapeutic target in the MPTP model of Parkinson’s disease


Authors: Rabaneda-Lombarte N, Serratosa J, Bové J, Vila M, Saura J, Solà C.
Journal: Journal of Neuroinflammation
Reference: 18(1):88
Year: 2021
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The spatiotemporal changes in dopamine, neuromelanin and iron characterising Parkinson’s disease


Authors: Biondetti E, Santin MD, Valabrègue R, Mangone G, Gaurav R, Pyatigorskaya N, Hutchison M, Yahia-Cherif L, Villain N, Habert MO, Arnulf I, Leu-Semenescu S, Dodet P, Vila M, Corvol JC, Vidailhet M, Lehéricy S
Journal: Brain
Reference: 144(10):3114-3125
Year: 2021
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Anti-α-synuclein ASO delivered to monoamine neurons prevents α-synuclein accumulation in a Parkinson’s disease-like mouse model and in monkeys


Authors: Alarcón-Arís D, Pavia-Collado R, Miquel-Rio L, Coppola-Segovia V, Ferrés-Coy A, Ruiz-Bronchal E, Galofré M, Paz V, Campa L, Revilla R, Montefeltro A, Kordower JH, Vila M, Artigas F, Bortolozzi A
Journal: EBioMedicine
Reference: 59:102944
Year: 2020
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Anti-α-synuclein ASO delivered to monoamine neurons prevents α-synuclein accumulation in a Parkinson’s disease-like mouse model and in monkeys


Authors: Alarcón-Arís D, Pavia-Collado R, Miquel-Rio L, Coppola-Segovia V, Ferrés-Coy A, Ruiz-Bronchal E, Galofré M, Paz V, Campa L, Revilla R, Montefeltro A, Kordower JH, Vila M, Artigas F, Bortolozzi A
Journal: eBioMedicine
Reference: 59:102944
Year: 2020
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CD8 T cell nigral infiltration precedes synucleinopathy in early stages of Parkinson’s disease


Authors: Galiano-Landeira J, Torra A, Vila M, Bové J
Journal: Brain
Reference: 143(12):3717-33
Year: 2020
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Chitinase 3-like 1 is neurotoxic in primary cultured neurons


Authors: Matute-Blanch C, Calvo-Barreiro L, Carballo-Carbajal I, Gonzalo R, Sanchez A, Vila M, Montalban X, Comabella M
Journal: Scientific Reports
Reference: 10(1):7118
Year: 2020
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Identification of of distinc pathological signatures induced by patient-derived alpha-synuclein structures in non-human primates


Authors: 14. Bourdenx M, Nioche A, Dovero S, Arotcarena ML, Camus S, Porras G, Thiolat ML, Rougier NP, Prigent A, Aubert P, Bohic S, Sandt C, Laferrière F, Doudnikoff E, Kruse N, Mollenhauer B, Novello S, Morari M, Leste-Lasserre T, Trigo Damas I, Goillandeau M, Perier C, Estrada C, Garcia-Carrillo N, Recasens A, Vaikath NN, El-Agnaf OMA, Herrero MT, Derkinderen P, Vila M, Obeso JA, Dehay B, Bezard E
Journal: Science Advances
Reference: 6(20):eaaz9165
Year: 2020
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