Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has increasingly been …

Background The C9orf72 hexanucleotide expansion is one of the latest discovered repeat
expansion disorders related to neurodegeneration. Its association with the FTD/ALS …

Background: Movement disorders are often a prominent part of the phenotype of many
neurologic rare diseases. In order to promote awareness and diagnosis of these rare …

Background In familial amyotrophic lateral sclerosis (ALS) cases, the presence of an
abnormal C9ORF72 repeat expansion (C9RE) is the most frequent genetic cause identified …

Introduction: Patients with Huntington-Like disorders (HLD) comprise a variety of allelic
disorders sharing a Huntington phenotype. The hexanucleotide repeat expansion of the …

The C9ORF72 hexanucleotide repeat expansion is an established cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been associated …

Objective To perform a screening for Huntington disease (HD) phenocopies in a Swedish
cohort. Methods Seventy-three DNA samples negative for HD were assessed at a tertiary …

Introduction. The expansion of a hexanucleotide GGGGCC repeat (G4C2) in the C9orf72
locus is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and …

Background: Several European studies examined the role of C9orf72 repeat expansion in
patients with Huntington-disease like phenotypes (HD-L). The scope of our study is to …

Otkriće ekspanzija heksanukleotidnih GGGGCC ponovaka u nekodirajućem regionu gena
C9orf72 predstavlja značajan doprinos rasvetljavanju genetičke osnove amiotrofične …