Publicaciones en las que colabora con Isidro Ferrer Abizanda (12)

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. 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

2015

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

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

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

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

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

  3. 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

2009

  1. Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

    Movement Disorders, Vol. 24, Núm. 13, pp. 1998-2001

2008

  1. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

    Biological Psychiatry, Vol. 63, Núm. 10, pp. 946-952