Browsing by Author "Campolongo Perillo, Antònia"

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  • Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients
    Spataro, Nino, 1984-; Roca-Umbert Würth, Ana; Cervera-Carles, Laura; Vallès, Mònica; Anglada Busquets, Roger; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Casals López, Ferran; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Wiley, 2017)
    Background: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. ...
  • Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease
    Spataro, Nino, 1984-; Calafell i Majó, Francesc; Cervera-Carles, Laura; Casals López, Ferran; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Lleó, Alberto; Navarro i Cuartiellas, Arcadi, 1969-; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Oxford University Press, 2015)
    Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10-20% of the total cases. Genome-wide association ...
  • Structure and dynamics of large-scale cognitive networks in Huntington's disease
    Aracil-Bolaños, Ignacio; Martínez Horta, Saúl; González de Echávarri, José Maria; Sampedro, Frederic; Pérez Pérez, Jesús; Horta Barba, Andrea; Campolongo Perillo, Antònia; Izquierdo, Cristina; Gómez-Ansón, Beatriz; Pagonabarraga, Javier; Kulisevsky, Jaime J. (Wiley, 2022)
    Background: Huntington's disease is a neurodegenerative disorder characterized by clinical alterations in the motor, behavioral, and cognitive domains. However, the structure and disruptions to large-scale brain cognitive ...

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