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Detection of α-synuclein in CSF by RT-QuIC in patients with isolated rapid-eye-movement sleep behaviour disorder: a longitudinal observational study.

Alex Iranzo, Graham Fairfoul, Anutra Chumbala Na Ayudhaya, Monica Serradell, Ellen Gelpi, Isabel Vilaseca, Raquel Sanchez-Valle, Carles Gaig, Joan Santamaria, Eduard Tolosa, Renata L Riha, Alison J E Green,

<h4>Background</h4>Isolated rapid-eye-movement (REM) sleep behaviour disorder (IRBD) can be part of the prodromal stage of the α-synucleinopathies Parkinson's disease and dementia with Lewy bodies. Real-time quaking-induced conversion (RT-QuIC) analysis of CSF has high sensitivity and specificity for the detection of misfolded α-synuclein in patients with Parkinson's disease and dementia with ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):203-212]

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Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.

Demis A Kia, David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina H Reynolds, Juan Botía, Mina Ryten, Raffaele Ferrari, Patrick A Lewis, Nigel Williams, Daniah Trabzuni, John Hardy, Nicholas W Wood, ,

<h4>Importance</h4>Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of ... Read more >>

JAMA Neurol (JAMA neurology)
[2021, :]

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Exome-wide rare variant analysis in familial essential tremor.

Monica Diez-Fairen, Gabrielle Houle, Sara Ortega-Cubero, Sara Bandres-Ciga, Ignacio Alvarez, Maria Carcel, Laura Ibañez, Maria Victoria Fernandez, John P Budde, Jean-Rémi Trotta, Raúl Tonda, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, , Miquel Aguilar, Juan P Tartari, Alexandre Gironell, Elena García-Martín, Jose Ag Agundez, Hortensia Alonso-Navarro, Felix Javier Jimenez-Jimenez, Manel Fernandez, Francesc Valldeoriola, Maria Jose Marti, Eduard Tolosa, Francisco Coria, Maria A Pastor, Carles Vilariño-Güell, Alex Rajput, Patrick A Dion, Carlos Cruchaga, Guy A Rouleau, Pau Pastor,

<h4>Introduction</h4>Essential tremor (ET) is one of the most common movement disorders. Despite its high prevalence and heritability, its genetic etiology remains elusive with only a few susceptibility genes identified and poorly replicated. Our aim was to find novel candidate genes involved in ET predisposition through whole exome sequencing.<h4>Methods</h4>We studied eight ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 82:109-116]

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Magnetic resonance imaging abnormalities as a marker of multiple system atrophy in isolated rapid eye movement sleep behavior disorder.

Amaia Muñoz-Lopetegi, Joan Berenguer, Alex Iranzo, Monica Serradell, Teresa Pujol, Carles Gaig, Esteban Muñoz, Eduard Tolosa, Joan Santamaría,

<h4>Study objectives</h4>Patients with isolated rapid eye movement (REM) sleep behavior disorder (IRBD) develop Parkinson disease (PD), dementia with Lewy bodies (DLB), or multiple system atrophy (MSA). Magnetic resonance imaging (MRI) is abnormal in MSA showing abnormalities in the putamen, cerebellum, and brainstem. Our objective was to evaluate the usefulness of ... Read more >>

Sleep (Sleep)
[2021, 44(1):]

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

Alexandra Pérez-Soriano, Paloma Bravo, Marta Soto, Jon Infante, Manel Fernández, Francesc Valldeoriola, Esteban Muñoz, Yaroslau Compta, Eduard Tolosa, Alicia Garrido, Mario Ezquerra, Rubén Fernández-Santiago, María-José Martí, ,

<h4>Background and objectives</h4>MicroRNA (miRNA) changes are observed in PD but remain poorly explored in other α-synucleinopathies such as MSA.<h4>Methods</h4>By genome-wide analysis we profiled microRNA expression in serum from 20 MSA cases compared to 40 controls. By qPCR we validated top differentially expressed microRNAs in another sample of 20 MSA and ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(10):1873-1879]

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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.

Sebastian Guelfi, Karishma D'Sa, Juan A Botía, Jana Vandrovcova, Regina H Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado-Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A Gagliano Taliun, Mike A Nalls, , , Kerrin S Small, Colin Smith, Adaikalavan Ramasamy, John Hardy, Michael E Weale, Mina Ryten,

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):1041]

Cited: 1 time

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Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.

Hirotaka Iwaki, Cornelis Blauwendraat, Mary B Makarious, Sara Bandrés-Ciga, Hampton L Leonard, J Raphael Gibbs, Dena G Hernandez, Sonja W Scholz, Faraz Faghri, , Mike A Nalls, Andrew B Singleton,

<h4>Background</h4>Although the leucine-rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified.<h4>Objectives</h4>To evaluate whether a cumulative genetic risk identified in the recent genome-wide study is associated with penetrance ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(5):774-780]

Cited: 5 times

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Olfaction in LRRK2 Linked Parkinson's Disease: Is It Different from Idiopathic Parkinson's Disease?

Dolores Vilas, Eduard Tolosa, María Quintana, Claustre Pont-Sunyer, Meritxell Santos, Aina Casellas, Francesc Valldeoriola, Yaroslau Compta, María José Martí, Joaquim Mullol,

<h4>Background</h4>Studies on olfaction in LRRK2-associated Parkinson's disease (LRRK2-PD) have yielded variable results. The impact of smell dysfunction upon daily life activities have been rarely assessed in PD.<h4>Objective</h4>To characterize the olfactory deficit in LRRK2-PD and its impact on daily life activities.<h4>Methods</h4>Twenty-four LRRK2-PD, 40 idiopathic PD (IPD), and 49 age-sex-matched controls were ... Read more >>

J Parkinsons Dis (Journal of Parkinson's disease)
[2020, 10(3):951-958]

Cited: 1 time

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Left-hemispheric predominance of nigrostriatal deficit in isolated REM sleep behavior disorder.

Alex Iranzo, Ambra Stefani, Aida Niñerola-Baizan, Heike Stokner, Monica Serradell, Dolores Vilas, Evi Holzknecht, Carles Gaig, Javier Pavia, Francesc Lomeña, David Reyes, Klaus Seppi, Joan Santamaria, Birgit Högl, Eduard Tolosa, Werner Poewe, ,

OBJECTIVE:Unilateral onset of parkinsonism due to nigrostriatal damage of the contralateral hemisphere is frequent in Parkinson disease (PD). There is evidence for a left-hemispheric bias of motor asymmetry in right-handed patients with PD indicating a hemispheric dominance. Isolated REM sleep behavior disorder (IRBD) constitutes the prodromal stage of PD and ... Read more >>

Neurology (Neurology)
[2020, 94(15):e1605-e1613]

Cited: 3 times

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Lack of Asymmetry of Nigrostriatal Dopaminergic Function in Healthy Subjects.

Alicia Garrido, Alex Iranzo, Ambra Stefani, Mònica Serradell, Amaia Muñoz-Lopetegi, Paula Marrero, Birgit Högl, Carles Gaig, Joan Santamaria, Eduard Tolosa, Werner Poewe, ,

OBJECTIVE:In right-handed patients with Parkinson's disease (PD) or isolated rapid eye movement sleep behavior disorder, dopamine transporter (DAT) [(123)I]β-carboxymethyoxy-3-β-(4-iodophenyl) tropane single photon emission computed tomography (SPECT) shows predominant nigrostriatal deficit in the left striatum. This suggests that in PD patients, the nigrostriatal system of the dominant hemisphere is more susceptible ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(6):1072-1076]

Cited: 1 time

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Galloping tongue syndrome in a PRRT2 mutation carrier.

Dolores Vilas, Anna Marcé-Grau, Alfons Macaya, Josep Valls-Solé, Eduard Tolosa,

Neurol Genet (Neurology. Genetics)
[2019, 5(6):e377]

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The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

Sara Bandres-Ciga, Sarah Ahmed, Marya S Sabir, Cornelis Blauwendraat, Astrid D Adarmes-Gómez, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, Dolores Buiza-Rueda, Fátima Carrillo, Mario Carrión-Claro, Pilar Gómez-Garre, Silvia Jesús, Miguel A Labrador-Espinosa, Daniel Macias, Carlota Méndez-Del-Barrio, Teresa Periñán-Tocino, Cristina Tejera-Parrado, Laura Vargas-González, Monica Diez-Fairen, Ignacio Alvarez, Juan Pablo Tartari, Mariateresa Buongiorno, Miquel Aguilar, Ana Gorostidi, Jesús Alberto Bergareche, Elisabet Mondragon, Ana Vinagre-Aragon, Ioana Croitoru, Javier Ruiz-Martínez, Oriol Dols-Icardo, Jaime Kulisevsky, Juan Marín-Lahoz, Javier Pagonabarraga, Berta Pascual-Sedano, Mario Ezquerra, Ana Cámara, Yaroslau Compta, Manel Fernández, Rubén Fernández-Santiago, Esteban Muñoz, Eduard Tolosa, Francesc Valldeoriola, Isabel Gonzalez-Aramburu, Antonio Sanchez Rodriguez, María Sierra, Manuel Menéndez-González, Marta Blazquez, Ciara Garcia, Esther Suarez-San Martin, Pedro García-Ruiz, Juan Carlos Martínez-Castrillo, Lydia Vela-Desojo, Clara Ruz, Francisco Javier Barrero, Francisco Escamilla-Sevilla, Adolfo Mínguez-Castellanos, Debora Cerdan, Cesar Tabernero, Maria Jose Gomez Heredia, Francisco Perez Errazquin, Manolo Romero-Acebal, Cici Feliz, Jose Luis Lopez-Sendon, Marina Mata, Irene Martínez Torres, Jonggeol Jeffrey Kim, Clifton L Dalgard, , Janet Brooks, Sara Saez-Atienzar, J Raphael Gibbs, Rafael Jorda, Juan A Botia, Luis Bonet-Ponce, Karen E Morrison, Carl Clarke, Manuela Tan, Huw Morris, Connor Edsall, Dena Hernandez, Javier Simon-Sanchez, Mike A Nalls, Sonja W Scholz, Adriano Jimenez-Escrig, Jacinto Duarte, Francisco Vives, Raquel Duran, Janet Hoenicka, Victoria Alvarez, Jon Infante, Maria José Marti, Jordi Clarimón, Adolfo López de Munain, Pau Pastor, Pablo Mir, Andrew Singleton, ,

<h4>Background</h4>The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases.<h4>Objectives</h4>To perform the largest PD genome-wide association study restricted to a single country.<h4>Methods</h4>We performed a GWAS for both risk of PD and age at ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(12):1851-1863]

Cited: 2 times

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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.

Mike A Nalls, Cornelis Blauwendraat, Costanza L Vallerga, Karl Heilbron, Sara Bandres-Ciga, Diana Chang, Manuela Tan, Demis A Kia, Alastair J Noyce, Angli Xue, Jose Bras, Emily Young, Rainer von Coelln, Javier Simón-Sánchez, Claudia Schulte, Manu Sharma, Lynne Krohn, Lasse Pihlstrøm, Ari Siitonen, Hirotaka Iwaki, Hampton Leonard, Faraz Faghri, J Raphael Gibbs, Dena G Hernandez, Sonja W Scholz, Juan A Botia, Maria Martinez, Jean-Christophe Corvol, Suzanne Lesage, Joseph Jankovic, Lisa M Shulman, Margaret Sutherland, Pentti Tienari, Kari Majamaa, Mathias Toft, Ole A Andreassen, Tushar Bangale, Alexis Brice, Jian Yang, Ziv Gan-Or, Thomas Gasser, Peter Heutink, Joshua M Shulman, Nicholas W Wood, David A Hinds, John A Hardy, Huw R Morris, Jacob Gratten, Peter M Visscher, Robert R Graham, Andrew B Singleton, , , ,

<h4>Background</h4>Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease.<h4>Methods</h4>We did a meta-analysis of ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2019, 18(12):1091-1102]

Cited: 85 times

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Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease.

Hampton Leonard, Cornelis Blauwendraat, Lynne Krohn, Faraz Faghri, Hirotaka Iwaki, Glen Ferguson, Aaron G Day-Williams, David J Stone, Andrew B Singleton, Mike A Nalls, Ziv Gan-Or, ,

<h4>Background</h4>Classical randomisation of clinical trial patients creates a source of genetic variance that may be contributing to the high failure rate seen in neurodegenerative disease trials. Our objective was to quantify genetic difference between randomised trial arms and determine how imbalance can affect trial outcomes.<h4>Methods</h4>5851 patients with Parkinson's disease of ... Read more >>

J Med Genet (Journal of medical genetics)
[2020, 57(5):331-338]

Cited: 3 times

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Whole-genome DNA hyper-methylation in iPSC-derived dopaminergic neurons from Parkinson's disease patients.

Rubén Fernández-Santiago, Angelika Merkel, Giancarlo Castellano, Simon Heath, Ángel Raya, Eduard Tolosa, María-José Martí, Antonella Consiglio, Mario Ezquerra,

<h4>Background</h4>Parkinson's disease (PD) is characterized by the loss of midbrain dopaminergic neurons (DAn). Previously, we described the presence of DNA hyper- and hypo-methylation alterations in induced pluripotent stem cells (iPSC)-derived DAn from PD patients using the Illumina 450K array which prominently covers gene regulatory regions.<h4>Methods</h4>To expand and contextualize previous findings, we ... Read more >>

Clin Epigenetics (Clinical epigenetics)
[2019, 11(1):108]

Cited: 3 times

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SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease.

Rubén Fernández-Santiago, Núria Martín-Flores, Francesca Antonelli, Catalina Cerquera, Verónica Moreno, Sara Bandres-Ciga, Elisabetta Manduchi, Eduard Tolosa, Andrew B Singleton, Jason H Moore, , María-Josep Martí, Mario Ezquerra, Cristina Malagelada,

<h4>Background</h4>Single nucleotide polymorphisms (SNPs) in the α-synuclein (SNCA) gene are associated with differential risk and age at onset (AAO) of both idiopathic and Leucine-rich repeat kinase 2 (LRRK2)-associated Parkinson's disease (PD). Yet potential combinatory or synergistic effects among several modulatory SNPs for PD risk or AAO remain largely underexplored.<h4>Objectives</h4>The mechanistic ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(9):1333-1344]

Cited: 1 time

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The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sara Bandres-Ciga, Sarah Ahmed, Marya Sabir, Cornelis Blauwendraat, Astrid Adarmes-Gómez, Inmaculada Bernal-Bernal, Marta Bonilla- Toribio, Dolores Buiza-Rueda, Fátima Carrillo, Mario Carrión-Claro, Pilar Gómez-Garre, Silvia Jesús, Miguel Labrador-Espinosa, Daniel Macias, Carlota Méndez-del-Barrio, Teresa Periñán-Tocino, Cristina Tejera-Parrado, Laura Vargas-González, Monica Diez-Fairen, Ignacio Alvarez, Juan Pablo Tartari, María Teresa Buongiorno, Miquel Aguilar, Ana Gorostidi, Jesús Alberto Bergareche, Elisabet Mondragon, Javier Ruiz-Martínez, Oriol Dols-Icardo, Jaime Kulisevsky, Juan Marín-Lahoz, Javier Pagonabarraga, Berta Pascual-Sedano, Mario Ezquerra, Ana Cámara, Yaroslau Compta, Manel Fernández, Rubén Fernández-Santiago, Esteban Muñoz, Eduard Tolosa, Francesc Valldeoriola, Isabel Gonzalez-Aramburu, Antonio Sanchez Rodriguez, María Sierra, Manuel Menéndez-González, Marta Blazquez, Ciara Garcia, Esther Suarez-San Martin, Pedro García-Ruiz, Juan Carlos Martínez-Castrillo, Lydia Vela-Desojo, Clara Ruz, Francisco Javier Barrero, Francisco Escamilla-Sevilla, Adolfo Mínguez-Castellanos, Debora Cerdan, Cesar Tabernero, Maria Jose Gomez Heredia, Francisco Perez Errazquin, Manolo Romero-Acebal, Cici Feliz, Jose Luis Lopez-Sendon, Marina Mata, Irene Martínez Torres, Jonggeol Jeffrey Kim, Janet Brooks, Sara Saez-Atienzar, Raphael Gibbs, Rafael Jorda, Juan Botia, Luis Bonet-Ponce, Karen Morrison, Carl Clarke, Manuela Tan, Huw Morris, Connor Edsall, Dena Hernandez, Javier Simon-Sanchez, Mike Nalls, Sonja Scholz, Adriano Jimenez-Escrig, Jacinto Duarte, Francisco Vives, Raquel Duran, Janet Hoenicka, Victoria Alvarez, Jon Infante, Maria José Marti, Jordi Clarimón, Adolfo López de Munain, Pau Pastor, Pablo Mir, Andrew Singleton, ,

<h4>ABSTRACT</h4> <h4>Background</h4> The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. <h4>Objectives</h4> To perform the largest Parkinson disease (PD) genome-wide association study (GWAS) restricted to a single country. <h4>Methods</h4> We performed a ... Read more >>

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The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.

Sara Bandres-Ciga, Sara Saez-Atienzar, Luis Bonet-Ponce, Kimberley Billingsley, Dan Vitale, Cornelis Blauwendraat, Jesse Raphael Gibbs, Lasse Pihlstrøm, Ziv Gan-Or, , Mark R Cookson, Mike A Nalls, Andrew B Singleton,

<h4>Background</h4>PD is a complex polygenic disorder. In recent years, several genes from the endocytic membrane-trafficking pathway have been suggested to contribute to disease etiology. However, a systematic analysis of pathway-specific genetic risk factors is yet to be performed.<h4>Objectives</h4>To comprehensively study the role of the endocytic membrane-trafficking pathway in the risk ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(4):460-468]

Cited: 13 times

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Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.

Regina H Reynolds, Juan Botía, Mike A Nalls, , , John Hardy, Sarah A Gagliano Taliun, Mina Ryten,

Parkinson's disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. In this study, we used stratified LD score regression ... Read more >>

NPJ Parkinsons Dis (NPJ Parkinson's disease)
[2019, 5:6]

Cited: 13 times

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LRP10 in α-synucleinopathies.

Demis A Kia, Marya S Sabir, Sarah Ahmed, Joanne Trinh, Sara Bandres-Ciga, ,

Lancet Neurol (The Lancet. Neurology)
[2018, 17(12):1032]

Cited: 3 times

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α-Synuclein aggregates in labial salivary glands of idiopathic rapid eye movement sleep behavior disorder.

Alex Iranzo, Sergi Borrego, Isabel Vilaseca, Carles Martí, Mónica Serradell, Raquel Sánchez-Valle, Gabor G Kovacs, Francesc Valldeoriola, Carles Gaig, Joan Santamaria, Eduard Tolosa, Ellen Gelpi,

Study Objectives:To assess whether biopsy of the labial minor salivary glands safely detects phosphorylated α-synuclein (pAS) deposits in idiopathic rapid eye movement sleep behavior disorder (IRBD), a condition that precedes the cardinal manifestations of synuclein disorders associated with Lewy-type pathology, namely, Parkinson's disease (PD) and dementia with Lewy bodies (DLB). ... Read more >>

Sleep (Sleep)
[2018, 41(8):]

Cited: 1 time

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Lack of central and peripheral nervous system synuclein pathology in R1441G LRRK2-associated Parkinson's disease.

Dolores Vilas, Ellen Gelpi, Iban Aldecoa, Oriol Grau, Roberta Rodriguez-Diehl, Serge Jaumà, María José Martí, Eduard Tolosa,

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2019, 90(7):832-833]

Cited: 1 time

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MicroRNA alterations in iPSC-derived dopaminergic neurons from Parkinson disease patients.

Eduard Tolosa, Teresa Botta-Orfila, Xavier Morató, Carles Calatayud, Raquel Ferrer-Lorente, María-José Martí, Manel Fernández, Carles Gaig, Ángel Raya, Antonella Consiglio, Mario Ezquerra, Rubén Fernández-Santiago,

MicroRNA (miRNA) misregulation in peripheral blood has been linked to Parkinson disease (PD) but its role in the disease progression remains elusive. We performed an explorative genome-wide study of miRNA expression levels in dopaminergic neurons (DAn) from PD patients generated by somatic cell reprogramming and induced pluripotent stem cells differentiation. ... Read more >>

Neurobiol Aging (Neurobiology of aging)
[2018, 69:283-291]

Cited: 8 times

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Alpha-synuclein aggregates in the parotid gland of idiopathic REM sleep behavior disorder.

Ana Fernández-Arcos, Isabel Vilaseca, Iban Aldecoa, Mónica Serradell, Eduard Tolosa, Joan Santamaría, Ellen Gelpi, Alex Iranzo,

<h4>Background</h4>The neuropathological hallmark of Parkinson's disease (PD) is the presence of aggregates of phosphorylated alpha-synuclein (pAS) in the nervous system.<h4>Method</h4>We report a patient with video-polysomnography-confirmed idiopathic REM sleep behavior disorder that underwent parotidectomy because of parotid gland cancer. Immunohistochemistry of the gland tissue revealed abundant pAS deposits. One year after ... Read more >>

Sleep Med (Sleep medicine)
[2018, 52:14-17]

Cited: 1 time

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Exhaustion of mitochondrial and autophagic reserve may contribute to the development of LRRK2 G2019S -Parkinson's disease.

Diana Luz Juárez-Flores, Ingrid González-Casacuberta, Mario Ezquerra, María Bañó, Francesc Carmona-Pontaque, Marc Catalán-García, Mariona Guitart-Mampel, Juan José Rivero, Ester Tobias, Jose Cesar Milisenda, Eduard Tolosa, Maria Jose Marti, Ruben Fernández-Santiago, Francesc Cardellach, Constanza Morén, Glòria Garrabou,

<h4>Background</h4>Mutations in leucine rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson's disease (PD). Mitochondrial and autophagic dysfunction has been described as etiologic factors in different experimental models of PD. We aimed to study the role of mitochondria and autophagy in LRRK2 <sup>G2019S</sup> -mutation, and its ... Read more >>

J Transl Med (Journal of translational medicine)
[2018, 16(1):160]

Cited: 9 times

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