Publicaciones en las que colabora con Isidro Ferrer Abizanda (28)

2021

  1. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 7, pp. 1092-1108

2020

  1. Genealogy of the neurodegenerative diseases based on a meta-analysis of age-stratified incidence data

    Scientific Reports, Vol. 10, Núm. 1

2018

  1. Sporadic Creutzfeldt–Jakob disease with glial PrPRes nuclear and perinuclear immunoreactivity

    Neuropathology, Vol. 38, Núm. 5, pp. 561-567

  2. iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology

    Molecular Neurobiology, Vol. 55, Núm. 4, pp. 3033-3048

2017

  1. A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction

    Brain, Vol. 140, Núm. 4, pp. 1128-1146

  2. Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations

    Current Neurology and Neuroscience Reports, Vol. 17, Núm. 4

  3. Fatal familial insomnia: mitochondrial and protein synthesis machinery decline in the mediodorsal thalamus

    Brain Pathology, Vol. 27, Núm. 1, pp. 95-106

2016

  1. Identification of new molecular alterations in fatal familial insomnia

    Human molecular genetics, Vol. 25, Núm. 12, pp. 2417-2436

  2. Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes

    Histopathology, Vol. 68, Núm. 2, pp. 308-312

2015

  1. Clinical correlations with lewy body pathology in LRRK2-related Parkinson disease

    JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105

  2. Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy

    Journal of Neuropathology and Experimental Neurology, Vol. 74, Núm. 4, pp. 370-379

2014

  1. LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity

    Human Molecular Genetics, Vol. 23, Núm. 25, pp. 1-18

2013

  1. A novel form of human disease

    Prion Biology: Research and Advances (Apple Academic Press), pp. 179-210

  2. A preliminary study of the whole-genome expression profile of sporadic and monogenic early-onset Alzheimer's disease

    Neurobiology of Aging, Vol. 34, Núm. 7, pp. 1772-1778

  3. Aprosodic speech with insular hyperintensities and 4R Tau pathology on autopsy

    Neurocase, Vol. 19, Núm. 6, pp. 583-586

2012

  1. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report

    Journal of Medical Case Reports, Vol. 6

2010

  1. A Novel PRNP Y218N mutation in gerstmann-sträussler-scheinker disease with neurofibrillary degeneration

    Journal of Neuropathology and Experimental Neurology, Vol. 69, Núm. 8, pp. 789-800

  2. A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report.

    BMC neurology, Vol. 10, pp. 99

  3. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

    Nature Genetics, Vol. 42, Núm. 3, pp. 234-239

  4. Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291