Non-coding CGG repeat expansion inLOC642361/NUTM2B-AS1is associated with a phenotype of oculopharyngodistal myopathy

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

(2022) Jiaxi Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy

(2022) Yi‐Heng Zeng et al.   ANNALS OF NEUROLOGY

Oculopharyngodistal myopathy

(2022) Jiaxi Yu et al.   CURRENT OPINION IN NEUROLOGY

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

(2022) Masashi Ogasawara et al.   Acta Neuropathologica Communications

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

(2021) Jiaxi Yu et al.   BRAIN

Neuronal intranuclear inclusion disease: recognition and update

(2021) Xi Lu et al.   JOURNAL OF NEURAL TRANSMISSION

Author Correction: Molecular mechanisms underlying nucleotide repeat expansion disorders

(2021) Indranil Malik et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes

(2021) Theerawat Kumutpongpanich et al.   JAMA Neurology

The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review

(2021) Xiu-Rong Huang et al.   MOLECULAR NEUROBIOLOGY

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

(2020) Jianwen Deng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12

(2020) Rie Saito et al.   Acta Neuropathologica Communications

5′ UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy

(2020) Jianying Xi et al.   BRAIN

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

(2020) Masashi Ogasawara et al.   Acta Neuropathologica Communications

Roles of lncRNAs and circRNAs in regulating skeletal muscle development

(2019) Rui Chen et al.   Acta Physiologica

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

Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease

(2019) Jianwen Deng et al.   JOURNAL OF MEDICAL GENETICS

RNA toxicity in non‐coding repeat expansion disorders

(2019) Bart Swinnen et al.   EMBO JOURNAL

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome

(2015) Seok Yoon Oh et al.   HUMAN MOLECULAR GENETICS

Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients

(2011) H. Durmus et al.   NEUROLOGY

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL