Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders
Delaby, C., Alcolea, D., Carmona-Iragui, M., Illán-Gala, I., Morenas-Rodríguez, E., Barroeta, I., Altuna, M., Estellés, T., Santos-Santos, M., Turon-Sans, J., Muñoz, L., Ribosa-Nogué, R., Sala-Matavera, I., Sánchez-Saudinos, B., Subirana, A., Videla, L., Benejam, B., Sirisi, S., Lehmann, S., Belbin, O., Clarimon, J., Blesa, R., Pagonabarraga, J., Rojas-Garcia, R., Fortea, J., Lleó, A.
Published in Scientific reports (08.06.2020)
Published in Scientific reports (08.06.2020)
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Journal Article
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome
Alonso‐Jiménez, A., Ramón, C., Dols‐Icardo, O., Roig, C., Gallardo, E., Clarimón, J., Núñez‐Peralta, C., Díaz‐Manera, J.
Published in European journal of neurology (01.02.2018)
Published in European journal of neurology (01.02.2018)
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Journal Article
Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer’s disease
Rodríguez-Rodríguez, E., Sánchez-Juan, P., Vázquez-Higuera, J. L., Mateo, I., Pozueta, A., Berciano, J., Cervantes, S., Alcolea, D., Martínez-Lage, P., Clarimón, J., Lleó, A., Pastor, P., Combarros, O.
Published in Journal of Neural Transmission (01.05.2013)
Published in Journal of Neural Transmission (01.05.2013)
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Journal Article
Conjoint FTLD‐FUS of the neuronal intermediate filament inclusion disease type, progressive supranuclear palsy and Alzheimer's pathology presenting as parkinsonism with early falls and late hallucinations, psychosis and dementia
Compta, Y., Ramos‐Campoy, O., Grau‐Rivera, O., Colom‐Cadena, M., Clarimón, J., Martí, M. J., Gelpi, E.
Published in Neuropathology and applied neurobiology (01.06.2017)
Published in Neuropathology and applied neurobiology (01.06.2017)
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Journal Article
Does ALS‐FUS without FUS mutation represent ALS‐FET? Report of three cases
Borrego‐Écija, S., Cortés‐Vicente, E., Cervera‐Carles, L., Clarimón, J., Gámez, J., Batlle, J., Ricken, G., Molina‐Porcel, L., Aldecoa, I., Sánchez‐Valle, R., Rojas‐García, R., Gelpi, E.
Published in Neuropathology and applied neurobiology (01.06.2019)
Published in Neuropathology and applied neurobiology (01.06.2019)
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Journal Article
Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication
Miller, D W, Hague, S M, Clarimon, J, Baptista, M, Gwinn-Hardy, K, Cookson, M R, Singleton, A B
Published in Neurology (25.05.2004)
Published in Neurology (25.05.2004)
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Unique post-exercise electrophysiological test results in a new Andersen–Tawil syndrome mutation
Díaz-Manera, J, Querol, L, Clarimón, J, Yagüe, S, Illa, I
Published in Clinical neurophysiology (01.12.2011)
Published in Clinical neurophysiology (01.12.2011)
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Journal Article
Whole genome analysis in a consanguineous family with early onset Alzheimer's disease
Clarimón, J, Djaldetti, R, Lleó, A, Guerreiro, R.J, Molinuevo, J.L, Paisán-Ruiz, C, Gómez-Isla, T, Blesa, R, Singleton, A, Hardy, J
Published in Neurobiology of aging (01.12.2009)
Published in Neurobiology of aging (01.12.2009)
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Journal Article
Incidental neuronal intermediate filament inclusion pathology: unexpected biopsy findings in a 37‐year‐old woman with epilepsy
Gelpi, E., Carrato, C., Grau‐López, L., Becerra, J. L., Garcia‐Armengol, R., Massuet, A., Cervera‐Carles, L., Clarimon, J., Beyer, K., Álvarez, R.
Published in Neuropathology and applied neurobiology (01.12.2017)
Published in Neuropathology and applied neurobiology (01.12.2017)
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Journal Article
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans
Ortega-Cubero, S, Lorenzo-Betancor, O, Lorenzo, E, Alonso, E, Coria, F, Pastor, M.A, Fernández-Santiago, R, Martí, M.J, Ezquerra, M, Valldeoriola, F, Compta, Y, Tolosa, E, Agundez, J.A, Jiménez-Jiménez, F.J, Gironell, A, Clarimon, J, de Castro, P, García-Martín, E, Alonso-Navarro, H, Pastor, P
Published in Neurobiology of aging (01.10.2013)
Published in Neurobiology of aging (01.10.2013)
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Journal Article
A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss
Servian-Morilla, E, Mavillard, F, Cantero-Nieto, G, Takeuchi, H, Clarimon, J, Bigot, A, Fernández-Chacón, R, Haltiwanger, R, Jafar-Nejad, H, Paradas, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
A novel GSK-3β inhibitor reduces Alzheimer's pathology and rescues neuronal loss in vivo
Serenó, L, Coma, M, Rodríguez, M, Sánchez-Ferrer, P, Sánchez, M.B, Gich, I, Agulló, J.M, Pérez, M, Avila, J, Guardia-Laguarta, C, Clarimón, J, Lleó, A, Gómez-Isla, T
Published in Neurobiology of disease (01.09.2009)
Published in Neurobiology of disease (01.09.2009)
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Journal Article
Lack of association with TorsinA haplotype in German patients with sporadic dystonia
Hague, S, Klaffke, S, Clarimon, J, Hemmer, B, Singleton, A, Kupsch, A, Bandmann, O
Published in Neurology (28.03.2006)
Published in Neurology (28.03.2006)
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Journal Article
A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression
Lladó, A., Fortea, J., Ojea, T., Bosch, B., Sanz, P., Valls-Solé, J., Clarimon, J., Molinuevo, J. L., Sánchez-Valle, R.
Published in European journal of neurology (01.07.2010)
Published in European journal of neurology (01.07.2010)
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Journal Article
PICOGEN: five years experience with a genetic counselling program for dementia
Fortea, J, Lladó, A, Clarimón, J, Lleó, A, Oliva, R, Peri, J, Pintor, L, Yagüe, J, Blesa, R, Molinuevo, J L, Sánchez-Valle, R
Published in Neurologia (Barcelona, Spain) (01.04.2011)
Published in Neurologia (Barcelona, Spain) (01.04.2011)
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Journal Article
Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population
Fidani, L., Clarimon, J., Goulas, A., Hatzitolios, A. I., Evans, W., Tsirogianni, E., Hardy, J., Kotsis, A.
Published in European journal of neurology (01.07.2007)
Published in European journal of neurology (01.07.2007)
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Journal Article
Triflusal reduces dense-core plaque load, associated axonal alterations and inflammatory changes, and rescues cognition in a transgenic mouse model of Alzheimer's disease
Coma, M, Serenó, L, Da Rocha-Souto, B, Scotton, T.C, España, J, Sánchez, M.B, Rodríguez, M, Agulló, J, Guardia-Laguarta, C, Garcia-Alloza, M, Borrelli, L.A, Clarimón, J, Lleó, A, Bacskai, B.J, Saura, C.A, Hyman, B.T, Gómez-Isla, T
Published in Neurobiology of disease (01.06.2010)
Published in Neurobiology of disease (01.06.2010)
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Journal Article
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk
Deming, Yuetiva, Filipello, Fabia, Cignarella, Francesca, Cantoni, Claudia, Hsu, Simon, Mikesell, Robert, Li, Zeran, Del-Aguila, Jorge L, Dube, Umber, Farias, Fabiana Geraldo, Bradley, Joseph, Budde, John, Ibanez, Laura, Fernandez, Maria Victoria, Blennow, Kaj, Zetterberg, Henrik, Heslegrave, Amanda, Johansson, Per M, Svensson, Johan, Nellgård, Bengt, Lleo, Alberto, Alcolea, Daniel, Clarimon, Jordi, Rami, Lorena, Molinuevo, José Luis, Suárez-Calvet, Marc, Morenas-Rodríguez, Estrella, Kleinberger, Gernot, Ewers, Michael, Harari, Oscar, Haass, Christian, Brett, Thomas J, Benitez, Bruno A, Karch, Celeste M, Piccio, Laura, Cruchaga, Carlos
Published in Science translational medicine (14.08.2019)
Published in Science translational medicine (14.08.2019)
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Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome
Lleó, Alberto, Zetterberg, Henrik, Pegueroles, Jordi, Karikari, Thomas K., Carmona-Iragui, María, Ashton, Nicholas J., Montal, Victor, Barroeta, Isabel, Lantero-Rodríguez, Juan, Videla, Laura, Altuna, Miren, Benejam, Bessy, Fernandez, Susana, Valldeneu, Silvia, Garzón, Diana, Bejanin, Alexandre, Iulita, Maria Florencia, Camacho, Valle, Medrano-Martorell, Santiago, Belbin, Olivia, Clarimon, Jordi, Lehmann, Sylvain, Alcolea, Daniel, Blesa, Rafael, Blennow, Kaj, Fortea, Juan
Published in Nature communications (14.07.2021)
Published in Nature communications (14.07.2021)
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