Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia

Background C9orf72 hexanucleotide repeat expansions are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in European populations. Variable disease penetrance between families presents a challenge for genetic counselling of at-risk relatives and r...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Kevin Talbot, Martin R Turner, Alexander G Thompson, Andrew G L Douglas
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMJ Publishing Group 2024-09-01
Serie:	BMJ Neurology Open
Accesso online:	https://neurologyopen.bmj.com/content/6/2/e000792.full
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!