Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS).

Mariam KekenadzeClarissa RoccaValentina TurchettiSara NagyNana KvirkveliaShorena VashadzeEka KvaratskheliaMaia BeridzeRauan KaiyrzhanovHenry Houlden

Published in: F1000Research (2024)

hexanucleotide expansion does not belong to the major genetic risk factor of ALS in Georgian patients. Further genetic studies in a bigger study population are needed to reveal the genetic causes of ALS in the Transcaucasian population.

Keyphrases

amyotrophic lateral sclerosis
genome wide
end stage renal disease
copy number
newly diagnosed
ejection fraction
chronic kidney disease
risk factors
prognostic factors
dna methylation
single cell
patient reported outcomes
patient reported