Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder which is characterized by the loss of both upper and lower motor neurons in the central nervous system. In a significant fraction of ALS cases - irrespective of family history- a genetic background may be identified. The ge...

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Bibliografische gegevens

Hoofdauteurs:	Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	BMC 2024-01-01
Reeks:	BMC Medical Genomics
Onderwerpen:	Amyotrophic lateral sclerosis ALS ALS genetics Intermediate length repeat expansion Copy number variation ATXN1
Online toegang:	https://doi.org/10.1186/s12920-024-01807-9
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