Add to ORKGA homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of CANVAS syndrome. We examined 1069 sporadic ALS patients for the presence of this repeat expansion. We did not discover any carriers of the homozygous AAGGG expansion in our ALS cohort, indicating that this form of RFC1 repeat expansions is not a common cause of sporadic ALS. However, our study did identify a novel repeat conformation and further expanded on the highly polymorphic nature of the RFC1 locus
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors ar...
Item does not contain fulltextOBJECTIVE: To assess the frequency and phenotype of hexanucleotide rep...
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Ident...
A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of...
We determined the frequency of C9orf72 repeat expansions in a large cohort of Belgian patients with ...
An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of amyotrophi...
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset...
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of am...
AbstractAn expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of am...
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors ar...
BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9...
SummaryBackgroundWe aimed to accurately estimate the frequency of a hexanucleotide repeat expansion ...
BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9...
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of am...
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of am...
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors ar...
Item does not contain fulltextOBJECTIVE: To assess the frequency and phenotype of hexanucleotide rep...
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Ident...
A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of...
We determined the frequency of C9orf72 repeat expansions in a large cohort of Belgian patients with ...
An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of amyotrophi...
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset...
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of am...
AbstractAn expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of am...
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors ar...
BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9...
SummaryBackgroundWe aimed to accurately estimate the frequency of a hexanucleotide repeat expansion ...
BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9...
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of am...
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of am...
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors ar...
Item does not contain fulltextOBJECTIVE: To assess the frequency and phenotype of hexanucleotide rep...
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Ident...