Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Article

Brain, 2024, awad436

 Authorship: RICCARDO CURRÒ, NATALIA DOMINIK, STEFANO FACCHINI, ELISA VEGEZZI, ROISIN SULLIVAN, VALENTINA GALASSI DEFORIE, GORKA FERNÁNDEZ-EULATE, ANDREAS TRASCHÜTZ, SALVATORE ROSSI, MATTEO GARIBALDI, MARIUSZ KWARCIANY, FRANCO TARONI, ALFREDO BRUSCO, JEAN-MARC GOOD, FRANCESCA CAVALCANTI, SIMON MANNANS, GIANINA RAVENSCROFT, RICHARD H. ROXBURGH, JON INFANTE CEBERIO

 09/01/2024

Influence of physiological variables and comorbidities on plasma Abeta40, Abeta42, and p-tau181 levels in cognitively unimpaired individuals

Article

International Journal of Molecular Sciences, 2024, 25, 1481

 Authorship: FRANCISCO MARTINEZ DUBARBIE, ANTONIO GUERRA RUIZ, SARA LOPEZ GARCIA, JUAN IRURE VENTURA, CARMEN LAGE MARTINEZ, MARTA FERNANDEZ MATARRUBIA, ANA POZUETA CANTUDO, MARIA GARCÍA-MARTÍNEZ, ANDREA CORRALES PARDO, MARIA PAZ BRAVO GONZALEZ, JUAN MARTÍN-ARROYO, JON INFANTE CEBERIO, MARCOS LOPEZ HOYOS, MARIA TERESA GARCIA UNZUETA, PASCUAL SANCHEZ JUAN, ELOY MANUEL RODRIGUEZ RODRIGUEZ

 2024

Ataxia de Marie: en recuerdo de un epónimo clásico caído en desuso

Article

Neurosciences and History, 2023, 11(4), 185-195

 Authorship: JOSE ANGEL BERCIANO BLANCO, J. GAZULLA, JON INFANTE CEBERIO

 2023

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias

Article

Cell Genomics, 2023, 3, 100316

 Authorship: KARRI KAVIOLA, RUTH CHIA, JINHUI DING, MEMOONA RASHEED, MASASHI FUJITA, VILAS MENOS, RONALD L. WALTON, RYAN L. COLLINS, KIMBERLEY BILLINGSLEY, HARRISON BRAND, MICHAEL TALKOWSKI, XUEFANG ZHAO, RAMITA DEWAN, ALI STARK, ANINDITA RAY, SULTANA SOLAIMAN, PILAR ÁLVAREZ JEREZ, LAKSH MALIK, JON INFANTE CEBERIO

 2023

Suicidal ideation among people with Parkinson's disease and comparison with a control group

Article

International Journal of Geriatric Psychiatry, 2023, e5919

 Authorship: DIEGO SANTOS-GARCÍA, TERESA DE DEUS FONTICOBA, CARLOS CORES BARTOLOMÉ, MARIA J. FEAL PANCEIRAS, IAGO GARCÍA DÍAZ, MARÍA ÍÑIGUEZ ALVARADO, SILVIA JESÚS, MARIA TERESA BOUNGIORNO, LLUÍS PLANELLAS, MARINA COSGAYA, JUAN GARCÍA CALDENTEY, NURIA CABALLOL, INES LEARDA, JORGE HERNÁNDEZ VARA, IRIA CABO, LYDIA LÓPEZ MANZANARES, ISABEL GNZÁLEZ ARAMBURU, MARIA A. ÁVILA RIVERA, JON INFANTE CEBERIO

 2023

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

Article

NPJ Parkinson's Disease, 2023, 9, 15

 Authorship: MARTA SOTO, MANEL FERNÁNDEZ, PALOMA BRAVO, SARA LAHOZ, ALICIA GARRIDO, ANTONIO SÁNCHEZ-RODRÍGUEZ, MARÍA RIVERA-SÁNCHEZ, MARIA SIERRA PEÑA, PAULA MELÓN, ANA ROIG-GARCÍA, ANNA NAITO, BRADFORD CASEY, JORDI CAMPS, EDUARDO TOLOSA, MARÍA JOSÉ MARTÍ, JON INFANTE CEBERIO, MARIO EZQUERRA, RUBÉN FERNÁNDEZ-SANTIAGO

 2023

Suicidal ideation among people with Parkinson's disease and comparison with a control group

Article

The Cerebellum, 2023

 Authorship: MISCHA UEBACHS, PHILIPP WEGNER, SEBASTIAN SCHAAF, SIMON KUGAI, HEIKE JACOBI, SHENG-HAN KUO, ASHIAZAWA TETSUO, JULIANE FLUCK, THOMAS KLOCKGETHER, JENNIFER FABER, JON INFANTE CEBERIO

 2023

Analysis of retinal nerve layers in idiopathic, LRRK2-associated Parkinson's disease and unaffected carriers of G2019S mutation

Article

Parkinsonism & Related Disorders, 2023, 106, 105246

 Authorship: ANDREA CERVERÓ, ANTONIO SÁNCHEZ-RODRÍGUEZ, MARÍA RIVERA-SÁNCHEZ, Mª ISABEL MARTINEZ RODRIGUEZ, MARÍA SIERRA, ISABEL GONZÁLEZ ARAMBURU, ÁNGELA GUTIÉRREZ GONZÁLEZ, JAVIER ANDRÉS PACHECO, MARÍA VICTORIA SÁNCHEZ-PELÁEZ, ALFONSO CASADO ROJO, JON INFANTE CEBERIO

 2023

Falls predict acute hospitalization in Parkinson's disease

Article

Journal of Parkinson's disease, 2023, 13(1), 105-124

 Authorship: DIEGO SANTOS GARCÍA, TERESA DE DEUS FONTICOBA, CARLOS CORES, ESTER SUÁREZ CASTRO, JORGE HERNÁNDEZ VARA, SILVIA JESÚS, PABLO MIR, MARINA COSGAYA, MARIA JOSÉ MARTÍ, PAU PASTOR, IRIA CABO, MANUEL SEIJO, INÉS LEGARDA, BÁRBARA VIVES, NURIA CABALLOL, JAVIER RÚIZ MARTÍNEZ, IOANA CROITORU, ESTHER CUBO, JAVIER MIRANDA, JON INFANTE CEBERIO

 2023

A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Article

Neuropathology and applied neurobiology, 2023, 49(2), e12892

 Authorship: MAGDA M. SANTANA, LAETITIA S. GASPAR, MARIA M. PINTO, PATRICK SILVA, DIANA ADÃO, DINA PEREIRA, JOANA AFONSO RIBEIRO, INÉS CUNHA, JEANNETTE HUEBENER-SCHMID, MAFALDA RAPOSO, ANA F. FERREIRA, JENNIFER FABER, SANDRA KUHS, HECTOR GARCIA-MORENO, KATHRIN REETZ, ANDREAS THIEME, JON INFANTE CEBERIO, BART P. C. VAN DE WARRENBURG, PAOLA GIUNTI, OLAF RIESS

 2023

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

Article

Neurología, 2023, 38, 379-386

 Authorship: G. ORTEGA SUERO, M.J. AVENZA ABILDÚA, C. SERRANO MUNUERA, I. ROUCO AXPE, F.J. ARPA GUTIÉRREZ, A.D. ADARMES GÓMEZ, F.J. RODRÍGUEZ DE RIVERA, B. QUINTANS CASTRO, I. POSADA RODRÍGUEZ, A. VADILLO BERMEJO, A. DOMINGO SANTOS, E. BLANCO VICENTE, JON INFANTE CEBERIO, J. PARDO FERNÁNDEZ, E. COSTA ARPÍN, C. PAINOUS MARTÍ, J.E. MUÑOZ GARCÍA, P. MIR RIVERA, F. MONTÓN ÁLVAREZ, L. BATALLER ALBEROLA

 2023

Cumulative genetic score and C9orf72 repeat status independently contribute to amyotrophic lateral sclerosis risk in 2 case-control studies

Article

Neurology: Genetics, 2023, 9(4), e200079

 Authorship: JOHN DOU, KELLY BAKULSKI, KAI GUO, JUNGUK HUR, LILI ZHAO, SARA SAEZ-ATIENZAR, ALI STARK, RUTH CHIA, ALBERTO GARCÍA-REDONDO, RICARDO ROJAS-GARCIA, JUAN FRANCISCO VÁZQUEZ COSTA, RUBEN FERNÁNDEZ SANTIAGO, SARA BANDRES-CIGA, PILAR GÓMEZ-GARRE, MARIA TERESA PERIÑÁN, PABLO MIR, JORDI PÉREZ-TUR, JAVIER RIANCHO ZARRABEITIA, JON INFANTE CEBERIO, FERNANDO CARDONA

 2023

Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España

Article

Neurología, 2023, 38, 379-386

 Authorship: G. ORTEGA SUERO, M. J. ABENZA ABILDÚA, C. SERRANO MUNUERA, I. ROUCO AXPE, F. J. ARPA GUTIÉRREZ, A. D. ADARMES GÓMEZ, F. J. RODRÍGUEZ DE RIVERA, B. QUINTANS CASTRO, I. POSADA RODRÍGUEZ, A. VADILLO BERMEJO, Á. DOMINGO SANTOS, E. BLANCO VICENTE, JON INFANTE CEBERIO, J. PARDO FERNÁNDEZ, E. COSTA ARPÍN, C. PAIONOUS MARTÍ, J. E. MUÑOZ, P. MIR RIVERA, F. MONTÓN ÁLVAREZ, L. BATALLER ALBEROLA

 2023

Accuracy of plasma Abeta40, Abeta42, and p-tau181 to detect CSF Alzheimer's pathological changes in cognitively unimpaired subjects using the Lumipulse automated platform

Article

Alzheimer's Research and Therapy, 2023, 15, 163

 Authorship: FRANCISCO MARTÍNEZ-DUBARBIE, ARMANDO RAUL GUERRA RUIZ, SARA LOPEZ GARCIA, CARMEN LAGE MARTINEZ, MARTA FERNANDEZ MATARRUBIA, JON INFANTE CEBERIO, ANA POZUETA CANTUDO, MARÍA GARCÍA-MARTÍNEZ, ANDREA CORRALES PARDO, MARIA PAZ BRAVO GONZALEZ, MARCOS LOPEZ HOYOS, JUAN IRURE VENTURA, PASCUAL SANCHEZ JUAN, MARIA TERESA GARCIA UNZUETA, ELOY MANUEL RODRIGUEZ RODRIGUEZ

 2023

Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3

Article

Brain, 2023, 146(10), 4132-4143

 Authorship: MAFALDA RAPOSO, JEANNETTE HÜBENER-SCHMID, ANA F. FERREIRA, ANA ROSA VIEIRA MELO, JOAO VASCONCELOS, PAULA PIRES, TERESA KAY, HÉCTOR GARCÍA-MORENO, PAOLA GIUNTI, MAGDA M. SANTANA, LUIS PEREIRA DE ALMEIDA, JON INFANTE CEBERIO, BART P. VAN DE WARRENBURG, JEROEN J. DE VRIS, JENNIFER FABER, THOMAS KLOCKGETHER, NICOLAS CASADEI, JAKOB ARMAND, LUDGER SCHÖLS

 03/10/2023

Stage-dependent biomarker changes in spinocerebellar ataxia type 3

Article

Annals of Neurology, 2023, 95(2), 400-406

 Authorship: JENNIFER FABER, MORITZ BERGER, CARLO WILKE, JEANNETTE HUBENER-SCHMID, TAMARA SCHAPRIAN, MAGDA M. SANTANA, MARCUS GROBE-EINSLER, DEMET ONDER, BERKAN KOYAK, PAOLA GIUNTI, HÉCTOR GARCÍA-MORENO, CRISTINA GONZÁLEZ-ROBLES, MANUEL LIMA, MAFALDA RAPOSO, ANA ROSA VIEIRA MELO, LUÍS PEREIRA DE ALMEIDA, PATRICK SILVA, MARIA M. PINTO, JON INFANTE CEBERIO

 2023

Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson's disease

Article

Parkinsonism & Related Disorders, 2022, (98), 21-26

 Authorship: ANTONIO SÁNCHEZ RODRÍGUEZ, CRISTINA TIRNAUCA, DIANA SALAS GOMEZ, MARIO FERNANDEZ GORGOJO, Mª ISABEL MARTINEZ RODRIGUEZ, MARIA SIERRA PEÑA, ISABEL GONZALEZ ARAMBURU, DIANA STAN, ÁNGELA GUTIÉRREZ-GONZÁLEZ, JOHANNES MARIO MEISSNER BLANCO, JAVIER ANDRÉS-PACHECO, MARÍA RIVERA-SÁNCHEZ, MARÍA VICTORIA SÁNCHEZ-PELÁEZ, PASCUAL SANCHEZ JUAN, JON INFANTE CEBERIO

 01/05/2022

History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration

Article

Cerebellum . 2022 Aug;21(4):531-544

 Authorship: JOSE ANGEL BERCIANO BLANCO, JOSÉ GAZULLA, JON INFANTE CEBERIO

 2022

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3

Article

Mov Disord . 2022 Sep;37(9):1850-1860

 Authorship: RODERICK P. P. W. M. MAAS, STEVEN TEERENSTRA, MANUELA LIMA, PAULA PIRES, LUÍS PEREIRA DE ALMEIDA, JUDITH VAN GAALEN, DAGMAR TIMMANN, JON INFANTE CEBERIO, CHIADI ONYIKE, KHALAF BUSHARA, HEIKE JACOBI, KATHRIN REETZ, MAGDA M. SANTANA, JOANA AFONSO RIBEIRO, JEANNETTE HÜBENER-SCHMID, JEROEN J. DE VRIES, MATTHIS SYNOFZIK, LUDGER SCHÖLS, HÉCTOR GARCÍA-MORENO, PAOLA GIUNTI

 2022

Intermediate and Expanded HTT Alleles and the Risk for a-Synucleinopathies

Article

Mov Disord . 2022 Sep;37(9):1841-1849

 Authorship: SERGIO PÉREZ-OLIVEIRA, IGNACIO ÁLVAREZ, IRENE ROSAS, MANUEL MENÉNDEZ-GONZÁLEZ, MARTA BLÁZQUEZ-ESTRADA, MIQUEL AGUILAR, DANIELA CORTE, MARIATERESA BUONGIORNO, LAURA MOLINA-PORCEL, IBAN ALDECOA, MARÍA J. MARTÍ, PASCUAL SÁNCHEZ-JUAN, JON INFANTE CEBERIO, ISABEL GONZALEZ ARAMBURU, PABLO GARCÍA-GONZÁLEZ, MAITÉE ROSENDE-ROCA, MERCÈ BOADA, AGUSTÍN RUIZ, MARÍA TERESA PERIÑÁN, DANIEL MACÍAS-GARCÍA

 2022

Clinical and structural brain correlates of hypomimia in early-stage Parkinson's disease

Article

Eur J Neurol . 2022 Dec;29(12):3720-3727

 Authorship: FREDERIC SAMPEDRO, SAUL MARTÍNEZ-HORTA, ANDREA HORTA-BARBA, MICHEL J. GROTHE, MIGUEL A. LABRADOR-ESPINOSA, SILVIA JESÚS, ASTRID ADARMES-GÓMEZ, FATIMA CARRILLO, ARNAU PUIG-DAVI, FLORINDA ROLDÁN-LORA, MIQUEL AGUILAR-BARBERA, PAU PASTOR, SONIA ESCALANTE ARROYO, BERTA SOLANO VILA, ANNA COTS-FORASTER, JAVIER RUIZ-MARTÍNEZ, FRANCISCO CARRILLO-PADILLA, MERCEDES PUEYO-MORLANS, ISABEL GONZALEZ ARAMBURU, JON INFANTE CEBERIO

 2022

Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3

Article

Eur J Neurol . 2022 Aug;29(8):2439-2452

 Authorship: HECTOR GARCIA-MORENO, MERCEDES PRUDENCIO, GILBERT THOMAS-BLACK, NITA SOLANKY, KAREN R JANSEN-WEST, RANA HANNA AL-SHAIKH, AMANDA HESLEGRAVE, HENRIK ZETTERBERG, MAGDA M SANTANA, LUIS PEREIRA DE ALMEIDA, ANA VASCONCELOS-FERREIRA, CRISTINA JANUÁRIO, JON INFANTE CEBERIO, JENNIFER FABER, THOMAS KLOCKGETHER, KATHRIN REETZ, MAFALDA RAPOSO, ANA F FERREIRA, MANUELA LIMA, LUDGER SCHÖLS

 2022

A machine learning approach to detect Parkinson's disease by looking at gait alterations

Article

Mathematics 2022, 10(19), 3500

 Authorship: CRISTINA TIRNAUCA, DIANA STAN, JOHANNES MARIO MEISSNER, DIANA SALAS GOMEZ, MARIO FERNANDEZ GORGOJO, JON INFANTE CEBERIO

 25/09/2022

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Article

Journal of neurology, 2022, 270, 944-952

 Authorship: HOLGER HENGEL, PETER MARTUS, JENNIFER FABER, PAOLA GIUNIT, HÉCTOR GARCÍA-MORENO, NITA SOLANKY, THOMAS KLOCKGETHER, KATHRIN REETZ, BART P. VAN DE WARRENBURG, MAGDA M. SANTANA, PATRICK SILVA, INÊS CUNHA, LUÍS PEREIRA DE ALMEIDA, DAGMAR TIMMANN, JON INFANTE CEBERIO, JEROEN DE VRIES, MANUELA LIMA, PAULA PIRES, KHALAF BUSHARA, HEIKE JACOBI

 01/11/2022

Plataforma no invasiva para el seguimiento y la mejora de las funciones ejecutivas (MIES)

 DEPARTAMENTO DE MEDICINA Y PSIQUIATRÍA

Head: ELOY MANUEL RODRIGUEZ RODRIGUEZ

Typology: Competitive national public projects

Start year: 2023

Terapia génica para la Ataxia de Friedreich

 DEPARTAMENTO DE MEDICINA Y PSIQUIATRÍA

Head: JON INFANTE CEBERIO

Typology: Competitive national public projects

Start year: 2023

Terapia génica de la Atrofia Muscular Espinal (SMA): Desarrollo de un sistema de nanopartículas funcionalizadas para la liberación específica de oligonucleótidos en la fibra muscular estriada esquelética

 Grupo De Ingeniería De Tejidos

 DEPARTAMENTO DE BIOLOGÍA MOLECULAR

Head: JOSE CARLOS RODRIGUEZ REY

Typology: Agreements and contracts art.83, University and Competitive Chairs UC

Start year: 2022

CONSTRUCCIÓN DE UN PROTOTIPO EN UN ENTORNO DE LABORATORIO DE ANÁLISIS DEL MOVIMIENTO PARA MONITORIZAR LA EVOLUCIÓN DE LA ENFERMEDAD DE ALZHEIMER

 Mathematics & Computation: Foundations, Learning And Artificial Intelligence (M&CFLAI)

 DEPARTAMENTO DE MATEMÁTICAS, ESTADÍSTICA Y COMPUTACIÓN

Head: RAFAEL DUQUE MEDINA

Typology: Competitive private projects, competitive autonomic and subcon…

Start year: 2022

PLATAFORMA DE BIOBANCOS

 DEPARTAMENTO DE MEDICINA Y PSIQUIATRÍA

Head: PASCUAL SANCHEZ JUAN

Typology: Competitive national public projects

Start year: 2018

ESTUDIO DE BIOMARCADORES MOTORES, GENÉTICOS Y DE IMAGEN EN LA ENFERMEDAD DE PARKINSON PRODRÓMICA ASOCIADA A LA MUTACIÓN G2019S DE LRRK2

 DEPARTAMENTO DE MEDICINA Y PSIQUIATRÍA

Head: JON INFANTE CEBERIO

Typology: Competitive national public projects

Start year: 2018

SELECCIÓN DE GENES CANDIDATO PARA LA ENFERMEDAD DE PARKINSON IDIOPÁTICA A TRAVÉS DEL ANÁLISIS DIFERENCIAL DEL TRANSCRIPTOMA ENTRE PACIENTES Y PORTADORES ASINTOMÁTICOS DE MUTACIONES EN LRRK2

 DEPARTAMENTO DE MEDICINA Y PSIQUIATRÍA

Head: JON INFANTE CEBERIO

Typology: Competitive national public projects

Start year: 2012

Niveles Séricos de Acido Urico y Progranulina, Factores Genéticos que lo Regulan y Enfermedad de Parkinson

 Authorship: MARIA ISABEL GONZALEZ ARAMBURU

 Supervision: ONOFRE COMBARROS PASCUAL, JON INFANTE CEBERIO 

 Defense date: 05/02/2016

La Enfermedad de Parkinson Causada por la Mutación G2019S de LRRK2 en Cantabria. Estudio Descriptivo y Análisis de Biomarcadores de la Enfermedad

 Authorship: MARIA SIERRA PEÑA

 Supervision: ONOFRE COMBARROS PASCUAL, JON INFANTE CEBERIO 

 Defense date: 24/09/2012

Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1-disease

Dataset

 DOI: 10.5061/dryad.1vhhmgqrd

 Authorship: ANDREAS TRASCHÜTZ, ANDREA CORTESE, SELINA REICH, NATALIA DOMINIK, JENNIFER FABER, HEIKE JACOBI, ANNETTE M. HARTMANN, DAN RUJESCU, SOLVEIG MONTAUT, ANDONI ECHANIZ-LAGUNA, SEVDA ERER, VALERIE CORNELIA SCHÜTZ, ALEXANDER A. TARNUTZER, MARC STURM, TOBIAS B. HAACK, NADÈGE VAUCAMPS-DIEDHIOU, HELENE PUCCIO, LUDGER SCHÖLS, THOMAS KLOCKGETHER, JON INFANTE CEBERIO

 09/12/2020