Essential phenotypes of NOTCH2NLC-related repeat expansion disorder

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

(2019) Ana Westenberger et al.   ANNALS OF NEUROLOGY

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

(2019) Yun Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor

(2019) Qi-Ying Sun et al.   BRAIN

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

(2018) Sarah A. Cumming et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells

(2018) Jovan Pešović et al.   Frontiers in Genetics