Five years on from our award-winning review on Nextgeneration sequencing and emerging
technologies, 1 a rapid pace of fundamental advances has markedly altered the landscape …

Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia
type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown. Here, using …

The hereditary cerebellar ataxias (HCAs) are rare, progressive neurologic disorders caused
by variants in many different genes. Inheritance may follow autosomal dominant, autosomal …

Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid
disease | Nature Genetics Skip to main content Thank you for visiting nature.com. You are …

Trinucleotide repeat expansions, notably CAG repeats translated into toxic polyglutamine-
containing proteins, are the leading cause of spinocerebellar ataxia (SCA). New work points …

Nucleotide repeat expansions in the human genome are a well-known cause of
neurological disease. In the past decade, advances in DNA sequencing technologies have …

Abstract Background Spinocerebellar ataxia 4 (SCA4), characterized in 1996, features adult‐
onset ataxia, polyneuropathy, and linkage to chromosome 16q22. 1; its underlying mutation …

Familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) is caused by (TTTTA) exp
(TTTCA) exp repeat expansions in SAMD12, while pure (TTTTA) exp is polymorphic. Our …

In a new study published in Movement Disorders, targeted long-read DNA sequencing
through adaptive sampling showed an expansion in the last coding exon of the ZFHX3 gene …

We read with interest the editorial article by Rudaks et al1 on spinocerebellar ataxia type 4
(SCA4). This work highlights the role of long read sequencing (LRS) as a tool to advance the …