Whole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion

Dac ID Contact Person Email Access Information
EGAC00001000656 Jordi Clarimón jclarimon [at] santpau [dot] cat No additional information is available

This DAC controls 1 dataset:

Dataset ID Description Technology Samples
EGAD00001003409 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. The purpose of the present study was to assess the mutation burden that is present in ALS and/or FTD known disease-causing genes in 54 patients (16 with available postmortem neuropathological diagnosis) with concurrent ALS and FTD (ALS/FTD) not-carrying the C9orf72 hexanucleotide repeat expansion, the most important genetic cause in both diseases. Illumina HiSeq 2500 54