Publicaciones en colaboración con investigadores/as de Charles University in Prague (19)

2021

  1. SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

    Journal of Experimental Medicine, Vol. 218, Núm. 6

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

2018

  1. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

  1. Cognitive decline in Huntington's disease expansion gene carriers

    Cortex, Vol. 95, pp. 51-62

  2. Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

    Acta Neuropathologica, Vol. 134, Núm. 3, pp. 475-487

  3. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Human Mutation, Vol. 38, Núm. 3, pp. 297-309

2015

  1. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: A European early-onset dementia consortium study

    Neurobiology of Aging, Vol. 36, Núm. 5, pp. 2005.e15-2005.e22

  2. Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

    Human Mutation, Vol. 36, Núm. 12, pp. 1226-1235

2014

  1. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

    Acta Neuropathologica, Vol. 128, Núm. 3, pp. 397-410

2013

  1. Suicidal ideation in a European Huntington's disease population

    Journal of Affective Disorders, Vol. 151, Núm. 1, pp. 248-258

  2. The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

    PLoS ONE, Vol. 8, Núm. 7

2012

  1. Discrepancies in reporting the CAG repeat lengths for Huntington’s disease

    European Journal of Human Genetics, Vol. 20, Núm. 1, pp. 20-26

2010

  1. Microbial colonization of halite from the hyper-arid atacama desert studied by Raman spectroscopy

    Philosophical Transactions of the Royal Society A: Mathematical, Physical and Engineering Sciences, Vol. 368, Núm. 1922, pp. 3205-3221

2007

  1. Raman spectroscopy of natural accumulated paraffins from rocks: Evenkite, ozokerite and hatchetine

    Spectrochimica Acta - Part A: Molecular and Biomolecular Spectroscopy, Vol. 68, Núm. 4, pp. 1143-1148

2006

  1. Raman spectroscopic study of mellite-A naturally occurring aluminium benzenehexacarboxylate from lignite-Claystone series of the tertiary age

    Spectrochimica Acta - Part A: Molecular and Biomolecular Spectroscopy, Vol. 65, Núm. 1, pp. 229-234

  2. Raman spectroscopic study of the complex aromatic mineral idrialite

    Journal of Raman Spectroscopy, Vol. 37, Núm. 7, pp. 771-776

2005

  1. FT-Raman spectroscopic study of calcium-rich and magnesium-rich carbonate minerals

    Spectrochimica Acta - Part A: Molecular and Biomolecular Spectroscopy

  2. Raman spectroscopic study of amorphous and crystalline hydrocarbons from soils, peats and lignite

    Spectrochimica Acta - Part A: Molecular and Biomolecular Spectroscopy

2004

  1. Fourier transform Raman spectra of Czech and Moravian fossil resins from freshwater sediments

    Journal of Raman Spectroscopy