DAC
Whole exome sequencing in patients with ALS and concomitant FTD lacking the C9orf72 repeat expansion
| Dac ID | Contact Person | 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 |
