scispace - formally typeset
L

Lilja Jansson

Researcher at University of Helsinki

Publications -  19
Citations -  4741

Lilja Jansson is an academic researcher from University of Helsinki. The author has contributed to research in topics: C9orf72 & Amyotrophic lateral sclerosis. The author has an hindex of 8, co-authored 15 publications receiving 3990 citations. Previous affiliations of Lilja Jansson include Helsinki University Central Hospital.

Papers
More filters
Journal ArticleDOI

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Alan E. Renton, +85 more
- 20 Oct 2011 - 
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
Journal ArticleDOI

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Aude Nicolas, +435 more
- 21 Mar 2018 - 
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.
Journal ArticleDOI

Amyloid precursor protein ( APP ) A673T mutation in the elderly Finnish population

TL;DR: The low amount of parenchymal β-amyloid pathology at the age of 104 supports the concept that the A673T variant protects the brain against β-amide pathology and AD.
Journal ArticleDOI

Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion.

TL;DR: CSF TDP-43 does not seem to distinguish the C9ORF72 expansion carriers from noncarriers, however, higher CSF TPD-43 levels were detected in ALS than in FTLD, which might be an indicator of a more rapid progression of T DP-43 pathology in ALS.