Works by Infante, Jon

Results: 92
    1

    In-depth mass-spectrometry reveals phospho-RAB12 as a blood biomarker of G2019S LRRK2-driven Parkinson's disease.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 6, p. 2075, doi. 10.1093/brain/awae404
    By:
    • Cortés, Adriana;
    • Phung, Toan K;
    • Mena, Lorena de;
    • Garrido, Alicia;
    • Infante, Jon;
    • Ruíz-Martínez, Javier;
    • Galmés-Ordinas, Miquel À;
    • Glendinning, Sophie;
    • Pérez, Jesica;
    • Roig, Ana;
    • Soto, Marta;
    • Cosgaya, Marina;
    • Ravasi, Valeria;
    • Fernández, Manel;
    • Rubiano-Castro, Alejandro;
    • Díaz, Ramón;
    • Hernández-Eguiazu, Haizea;
    • Sánchez-Quintana, Coro;
    • Vinagre-Aragón, Ana;
    • Mondragón, Elisabet
    Publication type:
    Article
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    Analysis of Visuospatial Abilities in Chiari Malformation Type I.

    Published in:
    Cerebellum, 2020, v. 19, n. 1, p. 6, doi. 10.1007/s12311-019-01056-y
    By:
    • García, Maitane;
    • Lázaro, Esther;
    • Amayra, Imanol;
    • López-Paz, Juan Francisco;
    • Martínez, Oscar;
    • Pérez, Manuel;
    • Berrocoso, Sarah;
    • Al-Rashaida, Mohammad;
    • Infante, Jon
    Publication type:
    Article
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    Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings.

    Published in:
    Cerebellum, 2012, v. 11, n. 1, p. 155, doi. 10.1007/s12311-011-0292-z
    By:
    • Jacobi, Heike;
    • Hauser, Till-Karsten;
    • Giunti, Paola;
    • Globas, Christoph;
    • Bauer, Peter;
    • Schmitz-Hübsch, Tanja;
    • Baliko, László;
    • Filla, Alessandro;
    • Mariotti, Caterina;
    • Rakowicz, Maria;
    • Charles, Perine;
    • Ribai, Pascale;
    • Szymanski, Sandra;
    • Infante, Jon;
    • Warrenburg, Bart;
    • Dürr, Alexandra;
    • Timmann, Dagmar;
    • Boesch, Sylvia;
    • Fancellu, Roberto;
    • Rola, Rafal
    Publication type:
    Article
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    Intermediate and Expanded HTT Alleles and the Risk for α-Synucleinopathies.

    Published in:
    2022
    By:
    • Pérez‐Oliveira, Sergio;
    • Álvarez, Ignacio;
    • Rosas, Irene;
    • Menendez‐González, Manuel;
    • Blázquez‐Estrada, Marta;
    • Aguilar, Miquel;
    • Corte, Daniela;
    • Buongiorno, Mariateresa;
    • Molina‐Porcel, Laura;
    • Aldecoa, Iban;
    • Martí, María J.;
    • Sánchez‐Juan, Pascual;
    • Infante, Jon;
    • González‐Aramburu, Isabel;
    • García‐González, Pablo;
    • Rosende‐Roca, Maitée;
    • Boada, Mercè;
    • Ruiz, Agustín;
    • Periñán, María Teresa;
    • Macías‐García, Daniel
    Publication type:
    journal article
    9

    Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.

    Published in:
    2022
    By:
    • Maas, Roderick P.P.W.M.;
    • Teerenstra, Steven;
    • Lima, Manuela;
    • Pires, Paula;
    • Pereira de Almeida, Luís;
    • van Gaalen, Judith;
    • Timmann, Dagmar;
    • Infante, Jon;
    • Onyike, Chiadi;
    • Bushara, Khalaf;
    • Jacobi, Heike;
    • Reetz, Kathrin;
    • Santana, Magda M.;
    • Afonso Ribeiro, Joana;
    • Hübener‐Schmid, Jeannette;
    • de Vries, Jeroen J.;
    • Synofzik, Matthis;
    • Schöls, Ludger;
    • Garcia‐Moreno, Hector;
    • Giunti, Paola
    Publication type:
    journal article
    10

    Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

    Published in:
    Movement Disorders, 2022, v. 37, n. 2, p. 405, doi. 10.1002/mds.28844
    By:
    • Hengel, Holger;
    • Martus, Peter;
    • Faber, Jennifer;
    • Garcia‐Moreno, Hector;
    • Solanky, Nita;
    • Giunti, Paola;
    • Klockgether, Thomas;
    • Reetz, Kathrin;
    • van de Warrenburg, Bart P.;
    • Pereira de Almeida, Luís;
    • Santana, Magda M.;
    • Januário, Cristina;
    • Silva, Patrick;
    • Thieme, Andreas;
    • Infante, Jon;
    • de Vries, Jeroen;
    • Lima, Manuela;
    • Ferreira, Ana F.;
    • Bushara, Khalaf;
    • Jacobi, Heike
    Publication type:
    Article
    11

    Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.

    Published in:
    Movement Disorders, 2021, v. 36, n. 11, p. 2675, doi. 10.1002/mds.28749
    By:
    • Hübener‐Schmid, Jeannette;
    • Kuhlbrodt, Kirsten;
    • Peladan, Julien;
    • Faber, Jennifer;
    • Santana, Magda M.;
    • Hengel, Holger;
    • Jacobi, Heike;
    • Reetz, Kathrin;
    • Garcia‐Moreno, Hector;
    • Raposo, Mafalda;
    • van Gaalen, Judith;
    • Infante, Jon;
    • Steiner, Katharina M.;
    • de Vries, Jeroen;
    • Verbeek, Marcel M.;
    • Giunti, Paola;
    • Pereira de Almeida, Luis;
    • Lima, Manuela;
    • van de Warrenburg, Bart;
    • Schöls, Ludger
    Publication type:
    Article
    12

    MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways.

    Published in:
    Movement Disorders, 2020, v. 35, n. 10, p. 1873, doi. 10.1002/mds.28143
    By:
    • Pérez‐Soriano, Alexandra;
    • Bravo, Paloma;
    • Soto, Marta;
    • Infante, Jon;
    • Fernández, Manel;
    • Valldeoriola, Francesc;
    • Muñoz, Esteban;
    • Compta, Yaroslau;
    • Tolosa, Eduard;
    • Garrido, Alicia;
    • Ezquerra, Mario;
    • Fernández‐Santiago, Rubén;
    • Martí, María‐José;
    • Camara, Ana;
    • Giraldo, Darly;
    • Planellas, Lluís;
    • Ávila, Asunción;
    • Bayés, Àngels;
    • Botta‐Orfila, Teresa;
    • Marchese, Domenica
    Publication type:
    Article
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    Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".

    Published in:
    2019
    By:
    • De la Casa‐Fages, Beatriz;
    • Fernández‐Eulate, Gorka;
    • Gamez, Josep;
    • Barahona‐Hernando, Raúl;
    • Morís, Germán;
    • García‐Barcina, María;
    • Infante, Jon;
    • Zulaica, Miren;
    • Fernández‐Pelayo, Uxoa;
    • Muñoz‐Oreja, Mikel;
    • Urtasun, Miguel;
    • Olaskoaga, Ander;
    • Zelaya, Victoria;
    • Jericó, Ivonne;
    • Saez‐Villaverde, Raquel;
    • Catalina, Irene;
    • Sola, Emma;
    • Martínez‐Sáez, Elena;
    • Pujol, Aurora;
    • Ruiz, Montserrat
    Publication type:
    Letter
    15

    Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

    Published in:
    2019
    By:
    • De la Casa‐Fages, Beatriz;
    • Fernández‐Eulate, Gorka;
    • Gamez, Josep;
    • Barahona‐Hernando, Raúl;
    • Morís, Germán;
    • García‐Barcina, María;
    • Infante, Jon;
    • Zulaica, Miren;
    • Fernández‐Pelayo, Uxoa;
    • Muñoz‐Oreja, Mikel;
    • Urtasun, Miguel;
    • Olaskoaga, Ander;
    • Zelaya, Victoria;
    • Jericó, Ivonne;
    • Saez‐Villaverde, Raquel;
    • Catalina, Irene;
    • Sola, Emma;
    • Martínez‐Sáez, Elena;
    • Pujol, Aurora;
    • Ruiz, Montserrat
    Publication type:
    journal article
    16

    α-synuclein (SNCA) but not dynamin 3 (DNM3) influences age at onset of leucine-rich repeat kinase 2 (LRRK2) Parkinson's disease in Spain.

    Published in:
    2018
    By:
    • Fernández‐Santiago, Rubén;
    • Garrido, Alicia;
    • Infante, Jon;
    • González‐Aramburu, Isabel;
    • Sierra, María;
    • Fernández, Manel;
    • Valldeoriola, Francesc;
    • Muñoz, Esteban;
    • Compta, Yaroslau;
    • Martí, María‐José;
    • Ríos, José;
    • Tolosa, Eduardo;
    • Ezquerra, Mario;
    • the Barcelona LRRK2 Study Group†;
    • Fernández-Santiago, Rubén;
    • González-Aramburu, Isabel;
    • Martí, María-José;
    • Barcelona LRRK2 Study Group†
    Publication type:
    journal article
    17

    The Onset of Nonmotor Symptoms in Parkinson's disease ( The ONSET PD Study).

    Published in:
    Movement Disorders, 2015, v. 30, n. 2, p. 229, doi. 10.1002/mds.26077
    By:
    • Pont‐Sunyer, Claustre;
    • Hotter, Anna;
    • Gaig, Carles;
    • Seppi, Klaus;
    • Compta, Yaroslau;
    • Katzenschlager, Regina;
    • Mas, Natalia;
    • Hofeneder, Dominik;
    • Brücke, Thomas;
    • Bayés, Angels;
    • Wenzel, Karoline;
    • Infante, Jon;
    • Zach, Heidemarie;
    • Pirker, Walter;
    • Posada, Ignacio J.;
    • Álvarez, Ramiro;
    • Ispierto, Lourdes;
    • Fàbregues, Oriol;
    • Callén, Antoni;
    • Palasí, Antoni
    Publication type:
    Article
    18

    Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.

    Published in:
    Movement Disorders, 2013, v. 28, n. 12, p. 1737, doi. 10.1002/mds.25507
    By:
    • González‐Aramburu, Isabel;
    • Sánchez‐Juan, Pascual;
    • Jesús, Silvia;
    • Gorostidi, Ana;
    • Fernández‐Juan, Eduardo;
    • Carrillo, Fátima;
    • Sierra, María;
    • Gómez‐Garre, Pilar;
    • Cáceres‐Redondo, María T.;
    • Berciano, José;
    • Ruiz‐Martínez, Javier;
    • Combarros, Onofre;
    • Mir, Pablo;
    • Infante, Jon
    Publication type:
    Article
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    Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.

    Published in:
    Movement Disorders, 2012, v. 27, n. 14, p. 1823, doi. 10.1002/mds.25226
    By:
    • Mata, Ignacio F.;
    • Checkoway, Harvey;
    • Hutter, Carolyn M.;
    • Samii, Ali;
    • Roberts, John W.;
    • Kim, Hojoong M.;
    • Agarwal, Pinky;
    • Alvarez, Victoria;
    • Ribacoba, Renee;
    • Pastor, Pau;
    • Lorenzo-Betancor, Oswaldo;
    • Infante, Jon;
    • Sierra, María;
    • Gómez-Garre, Pilar;
    • Mir, Pablo;
    • Ritz, Beate;
    • Rhodes, Shannon L.;
    • Colcher, Amy;
    • Van Deerlin, Vivianna;
    • Chung, Kathryn A.
    Publication type:
    Article
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    Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

    Published in:
    Movement Disorders, 2011, v. 26, n. 5, p. 819, doi. 10.1002/mds.23642
    By:
    • Mata, Ignacio F.;
    • Yearout, Dora;
    • Alvarez, Victoria;
    • Coto, Eliecer;
    • de Mena, Lorena;
    • Ribacoba, Renee;
    • Lorenzo-Betancor, Oswaldo;
    • Samaranch, Lluis;
    • Pastor, Pau;
    • Cervantes, Sebastian;
    • Infante, Jon;
    • Garcia-Gorostiaga, Ines;
    • Sierra, Maria;
    • Combarros, Onofre;
    • Snapinn, Katherine W.;
    • Edwards, Karen L.;
    • Zabetian, Cyrus P.
    Publication type:
    Article
    25
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    Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study.

    Published in:
    Movement Disorders, 2010, v. 25, n. 5, p. 587, doi. 10.1002/mds.22740
    By:
    • Schmitz-Hübsch, Tanja;
    • Coudert, Mathieu;
    • Giunti, Paola;
    • Globas, Christoph;
    • Baliko, Laszlo;
    • Fancellu, Roberto;
    • Mariotti, Caterina;
    • Filla, Alessandro;
    • Rakowicz, Maryla;
    • Charles, Perrine;
    • Ribai, Pascale;
    • Szymanski, Sandra;
    • Infante, Jon;
    • van de Warrenburg, Bart P.C.;
    • Dürr, Alexandra;
    • Timmann, Dagmar;
    • Boesch, Sylvia;
    • Rola, Rafal;
    • Depondt, Chantal;
    • Schöls, Ludger
    Publication type:
    Article
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    Amphetamine-induced hemichorea.

    Published in:
    2021
    By:
    • Martínez-Dubarbie, Francisco;
    • Ricart-Colome, Cinta;
    • Manzanedo-Terán, Beatriz;
    • Infante, Jon
    Publication type:
    Letter
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    Influence of Physiological Variables and Comorbidities on Plasma Aβ40, Aβ42, and p-tau181 Levels in Cognitively Unimpaired Individuals.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1481, doi. 10.3390/ijms25031481
    By:
    • Martínez-Dubarbie, Francisco;
    • Guerra-Ruiz, Armando;
    • López-García, Sara;
    • Irure-Ventura, Juan;
    • Lage, Carmen;
    • Fernández-Matarrubia, Marta;
    • Pozueta-Cantudo, Ana;
    • García-Martínez, María;
    • Corrales-Pardo, Andrea;
    • Bravo, María;
    • Martín-Arroyo, Juan;
    • Infante, Jon;
    • López-Hoyos, Marcos;
    • García-Unzueta, María Teresa;
    • Sánchez-Juan, Pascual;
    • Rodríguez-Rodríguez, Eloy
    Publication type:
    Article
    35

    Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

    Published in:
    2024
    By:
    • Hengel, Holger;
    • Martus, Peter;
    • Faber, Jennifer;
    • Giunti, Paola;
    • Garcia-Moreno, Hector;
    • Solanky, Nita;
    • Klockgether, Thomas;
    • Reetz, Kathrin;
    • van de Warrenburg, Bart P.;
    • Santana, Magda M.;
    • Silva, Patrick;
    • Cunha, Inês;
    • de Almeida, Luís Pereira;
    • Timmann, Dagmar;
    • Infante, Jon;
    • de Vries, Jeroen;
    • Lima, Manuela;
    • Pires, Paula;
    • Bushara, Khalaf;
    • Jacobi, Heike
    Publication type:
    Correction Notice
    36

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

    Published in:
    Journal of Neurology, 2023, v. 270, n. 2, p. 944, doi. 10.1007/s00415-022-11441-z
    By:
    • Hengel, Holger;
    • Martus, Peter;
    • Faber, Jennifer;
    • Giunit, Paola;
    • Garcia-Moreno, Hector;
    • Solanky, Nita;
    • Klockgether, Thomas;
    • Reetz, Kathrin;
    • van de Warrenburg, Bart P.;
    • Santana, Magda M.;
    • Silva, Patrick;
    • Cunha, Inês;
    • de Almeida, Luís Pereira;
    • Timmann, Dagmar;
    • Infante, Jon;
    • de Vries, Jeroen;
    • Lima, Manuela;
    • Pires, Paula;
    • Bushara, Khalaf;
    • Jacobi, Heike
    Publication type:
    Article
    37

    POLR3A-related spastic ataxia: new mutations and a look into the phenotype.

    Published in:
    Journal of Neurology, 2020, v. 267, n. 2, p. 324, doi. 10.1007/s00415-019-09574-9
    By:
    • Infante, Jon;
    • Serrano-Cárdenas, Karla M.;
    • Corral‐Juan, Marc;
    • Farré, Xavier;
    • Sánchez, Ivelisse;
    • de Lucas, Enrique M.;
    • García, Antonio;
    • Martín-Gurpegui, José Luis;
    • Berciano, José;
    • Matilla-Dueñas, Antoni
    Publication type:
    Article
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    Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.

    Published in:
    Journal of Neurology, 2012, v. 259, n. 2, p. 246, doi. 10.1007/s00415-011-6155-1
    By:
    • Sánchez-Ferrero, Elena;
    • Coto, Eliecer;
    • Corao, Ana;
    • Díaz, Marta;
    • Gámez, Josep;
    • Esteban, Jesús;
    • Gonzalo, Juan;
    • Pascual-Pascual, Samuel;
    • Munaín, Adolfo;
    • Morís, Germán;
    • Infante, Jon;
    • Castillo, Emilia;
    • Márquez, Celedonio;
    • Álvarez, Victoria
    Publication type:
    Article
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