Simón-Sánchez, Javier

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. [electronic resource] - Brain : a journal of neurology Mar 2012 - 723-35 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2156

10.1093/brain/awr353 doi


Adult
Age of Onset
Aged
Aged, 80 and over
Amyotrophic Lateral Sclerosis--genetics
Autopsy
C9orf72 Protein
Cohort Studies
DNA Repeat Expansion
DNA-Binding Proteins--genetics
Female
Frontotemporal Dementia--genetics
Genotype
Humans
Immunohistochemistry
In Situ Hybridization
Intercellular Signaling Peptides and Proteins--genetics
Male
Middle Aged
Netherlands
Neurons--pathology
Neuropsychological Tests
Pedigree
Polymerase Chain Reaction
Progranulins
Proteins--genetics
Tissue Banks
tau Proteins--genetics