Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
Jacobi, Heike, MD, du Montcel, Sophie Tezenas, PhD, Bauer, Peter, MD, Giunti, Paola, PhD, Cook, Arron, MBBS, Labrum, Robyn, MD, Parkinson, Michael H, MBBS, Durr, Alexandra, PhD, Brice, Alexis, Prof, Charles, Perrine, MD, Marelli, Cecilia, MD, Mariotti, Caterina, MD, Nanetti, Lorenzo, MD, Panzeri, Marta, MD, Rakowicz, Maria, MD, Sulek, Anna, PhD, Sobanska, Anna, MD, Schmitz-Hübsch, Tanja, MD, Schöls, Ludger, MD, Hengel, Holger, MD, Baliko, Laszlo, MD, Melegh, Bela, Prof, Filla, Alessandro, Prof, Antenora, Antonella, MD, Infante, Jon, MD, Berciano, José, Prof, van de Warrenburg, Bart P, PhD, Timmann, Dagmar, MD, Szymanski, Sandra, MD, Boesch, Sylvia, MD, Kang, Jun-Suk, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof, Molho, Sonia, MSc, Diallo, Alhassane, MD, Klockgether, Thomas, Prof
Published in Lancet neurology (01.11.2015)
Published in Lancet neurology (01.11.2015)
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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
DU MONTCEL, Sophie Tezenas, DURR, Alexandra, VAN DE WARRENBURG, Bart P. C, ORSI, Laura, GIUNTI, Paola, FILLA, Alessandro, SZYMANSKI, Sandra, KLOCKGETHER, Thomas, BERCIANO, José, PANDOLFO, Massimo, BOESCH, Sylvia, MELEGH, Bela, BAUER, Peter, TIMMANN, Dagmar, MANDICH, Paola, CAMUZAT, Agnès, GOTO, Jun, ASHIZAWA, Tetsuo, CAZENEUVE, Cécile, TSUJI, Shoji, PULST, Stefan-M, BRUSCO, Alfredo, RIESS, Olaf, FIGUEROA, Karla P, BRICE, Alexis, STEVANIN, Giovanni, ICHIKAWA, Yaeko, BRUSSINO, Alessandro, FORLANI, Sylvie, RAKOWICZ, Maria, SCHÖLS, Ludger, MARIOTTI, Caterina
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
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Comparative blood transcriptome analysis in idiopathic and LRRK2 G2019S–associated Parkinson's disease
Infante, Jon, Prieto, Carlos, Sierra, María, Sánchez-Juan, Pascual, González-Aramburu, Isabel, Sánchez-Quintana, Coro, Berciano, José, Combarros, Onofre, Sainz, Jesús
Published in Neurobiology of aging (01.02.2016)
Published in Neurobiology of aging (01.02.2016)
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Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
Jacobi, Heike, du Montcel, Sophie Tezenas, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H., Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Sarro, Lidia, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Nachbauer, Wolfgang, Kang, Jun-Suk, Pandolfo, Massimo, Schulz, Jörg B., Melac, Audrey Tanguy, Diallo, Alhassane, Klockgether, Thomas
Published in Journal of neurology (01.09.2018)
Published in Journal of neurology (01.09.2018)
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Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis
Published in Journal of medical genetics (01.07.2014)
Published in Journal of medical genetics (01.07.2014)
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First cases of European bat lyssavirus type 1 in Iberian serotine bats: Implications for the molecular epidemiology of bat rabies in Europe
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Published in PLoS neglected tropical diseases (23.04.2018)
Published in PLoS neglected tropical diseases (23.04.2018)
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Identification of candidate genes for Parkinson's disease through blood transcriptome analysis in LRRK2 -G2019S carriers, idiopathic cases, and controls
Infante, Jon, Prieto, Carlos, Sierra, María, Sánchez-Juan, Pascual, González-Aramburu, Isabel, Sánchez-Quintana, Coro, Berciano, José, Combarros, Onofre, Sainz, Jesús
Published in Neurobiology of aging (01.02.2015)
Published in Neurobiology of aging (01.02.2015)
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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
Zimoń, Magdalena, Baets, Jonathan, Auer-Grumbach, Michaela, Berciano, José, Garcia, Antonio, Lopez-Laso, Eduardo, Merlini, Luciano, Hilton-Jones, David, McEntagart, Meriel, Crosby, Andrew H., Barisic, Nina, Boltshauser, Eugen, Shaw, Christopher E., Landouré, Guida, Ludlow, Christy L., Gaudet, Rachelle, Houlden, Henry, Reilly, Mary M., Fischbeck, Kenneth H., Sumner, Charlotte J., Timmerman, Vincent, Jordanova, Albena, Jonghe, Peter De
Published in Brain (London, England : 1878) (01.06.2010)
Published in Brain (London, England : 1878) (01.06.2010)
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External laryngeal tremor in adult-onset Alexander disease
Gazulla, José, Rodríguez-Valle, Ana, Calatayud-Lallana, Leonor Maria, Berciano, José
Published in Case reports in neurology (03.05.2024)
Published in Case reports in neurology (03.05.2024)
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Very early Guillain-Barré syndrome: A clinical-electrophysiological and ultrasonographic study
Berciano, José, Orizaola, Pedro, Gallardo, Elena, Pelayo-Negro, Ana L., Sánchez-Juan, Pascual, Infante, Jon, Sedano, María J.
Published in Clinical neurophysiology practice (01.01.2020)
Published in Clinical neurophysiology practice (01.01.2020)
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A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk
Sanchez-Juan, Pascual, Bishop, Matthew T, Kovacs, Gabor G, Calero, Miguel, Aulchenko, Yurii S, Ladogana, Anna, Boyd, Alison, Lewis, Victoria, Ponto, Claudia, Calero, Olga, Poleggi, Anna, Carracedo, Ángel, van der Lee, Sven J, Ströbel, Thomas, Rivadeneira, Fernando, Hofman, Albert, Haïk, Stéphane, Combarros, Onofre, Berciano, José, Uitterlinden, Andre G, Collins, Steven J, Budka, Herbert, Brandel, Jean-Philippe, Laplanche, Jean Louis, Pocchiari, Maurizio, Zerr, Inga, Knight, Richard S G, Will, Robert G, van Duijn, Cornelia M
Published in PloS one (28.04.2015)
Published in PloS one (28.04.2015)
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Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy
Bengoechea, Rocío, Tapia, Olga, Casafont, Iñigo, Berciano, José, Lafarga, Miguel, Berciano, María T
Published in Neurobiology of disease (01.04.2012)
Published in Neurobiology of disease (01.04.2012)
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