Dataset

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

Dataset ID Technology Samples
EGAD00001003409 Illumina HiSeq 2500 54

Dataset Description

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.

Who controls access to this dataset

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Whole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion
Contact person: Jordi Clarimón
Email: jclarimon [at] santpau [dot] cat
More details: EGAC00001000656

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