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

GIPC1 CGG repeat expansion is associated with movement disorders

(2022) Yu Fan et al.   ANNALS OF NEUROLOGY

Assessment of GGC Repeat Expansion in GIPC1 in Patients with Parkinson's Disease

(2022) Yongcheng Pan et al.   MOVEMENT DISORDERS

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

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases

(2021) Manon Boivin et al.   NEURON

Molecular mechanisms underlying nucleotide repeat expansion disorders

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

NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders

(2021) Lanxiao Cao et al.   NEUROLOGICAL SCIENCES

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

(2021) Theerawat Kumutpongpanich et al.   JAMA Neurology

Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases

(2021) Shaoping Zhong et al.   ACTA NEUROPATHOLOGICA

NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation

(2021) Yu Fan et al.   JOURNAL OF MEDICAL GENETICS

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

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

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy

(2021) Masashi Ogasawara et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

(2021) Hiromi Fukuda et al.   Clinical Epigenetics

Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

(2020) Bin Jiao et al.   NEUROBIOLOGY OF AGING

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

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

Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder

(2020) Hao Chen et al.   BRAIN

Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy

(2020) Pu Fang et al.   Annals of Clinical and Translational Neurology

NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long‐Term Follow‐up

(2020) Adeline S. L. Ng et al.   ANNALS OF NEUROLOGY

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

NOTCH2NLC Intermediate‐Length Repeat Expansions Are Associated with Parkinson Disease

(2020) Chang‐he Shi et al.   ANNALS OF NEUROLOGY

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis

(2020) Yanchun Yuan et al.   NEUROLOGY

Association of NOTCH2NLC Repeat Expansions With Parkinson Disease

(2020) Dongrui Ma et al.   JAMA Neurology

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

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

GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy

(2019) Masaki Okubo et al.   ANNALS OF NEUROLOGY

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

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

(2019) Qi-Ying Sun et al.   BRAIN

Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

(2015) Juan Zhao et al.   PLoS One

Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy

(2013) Yusuke Shimizu et al.   Journal of Plastic Reconstructive and Aesthetic Surgery

The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis

(2012) Andrea Mignarri et al.   NEUROMUSCULAR DISORDERS

Oculopharyngodistal myopathy – A possible association with cardiomyopathy

(2010) Wesley Thevathasan et al.   NEUROMUSCULAR DISORDERS