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

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

(2021) Jiaxi Yu et al.   BRAIN

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

Generation of an induced pluripotent stem cell line (ZZUi020-A) from a patient with Parkinson’s disease harboring the intermediate-length GGC repeat expansions in the NOTCH2NLC gene

(2021) Yu Fan et al.   Stem Cell Research

Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration

(2021) Keqin Xu et al.   Frontiers in Cellular Neuroscience

The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

(2021) Jie Pang et al.   Frontiers in Neurology

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

(2021) Jiaxi Yu et al.   Annals of Clinical and Translational Neurology

Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis

(2021) Kang-Yang Jih et al.   NEUROBIOLOGY OF AGING

Clinicopathological features of neuronal intranuclear inclusion disease diagnosed by skin biopsy

(2021) Gao-Jia Zhang et al.   NEUROLOGICAL SCIENCES

Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit

(2021) Michelle E. Ehrlich et al.   NEURON

Genomic Markers for Essential Tremor

(2021) Félix Javier Jiménez-Jiménez et al.   Pharmaceuticals

Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

(2020) Bin Jiao et al.   NEUROBIOLOGY OF AGING

Recent progress in neuronal intranuclear inclusion disease: a review of the literature

(2020) Hafiz Khuram Raza et al.   NEUROLOGICAL SCIENCES

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy

(2020) Takaaki Hayashi et al.   OPHTHALMIC GENETICS

Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease

(2020) Mingming Li et al.   BMC Neurology

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

(2020) Hao Chen et al.   BRAIN

Evolution of human brain-size associated NOTCH2NL genes proceeds towards reduced protein levels

(2020) Gerrald A Lodewijk et al.   MOLECULAR BIOLOGY AND EVOLUTION

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients

(2020) Shen-Yang Lim et al.   PARKINSONISM & RELATED DISORDERS

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

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

GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy

(2020) Wai Yan Yau et al.   ANNALS OF 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

GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor

(2020) Wai Yan Yau et al.   BRAIN

NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome

(2020) Adeline S L Ng et al.   BRAIN

Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort

(2020) Zhiyong Chen et al.   CLINICAL GENETICS

Clinical and pathological features in adult-onset NIID patients with cortical enhancement

(2020) Huiting Liang et al.   JOURNAL OF NEUROLOGY

Neuronal intranuclear inclusion disease is genetically heterogeneous

(2020) Zhongbo Chen et al.   Annals of Clinical and Translational Neurology

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

Re‐defining the clinicopathological spectrum of neuronal intranuclear inclusion disease

(2020) Hao Chen et al.   Annals of Clinical and Translational Neurology

NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent

(2020) Wai Yan Yau et al.   ANNALS OF NEUROLOGY

Assessing the NOTCH2NLC GGC expansion in essential tremor patients from eastern China

(2020) Yaping Yan et al.   BRAIN

Advances in repeat expansion diseases and a new concept of repeat motif–phenotype correlation

(2020) Hiroyuki Ishiura et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

(2020) Masashi Ogasawara et al.   Acta Neuropathologica Communications

Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution

(2019) Ian T. Fiddes et al.   HUMAN GENETICS

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

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

(2019) Qi-Ying Sun et al.   BRAIN

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation

(2018) Ikuo K. Suzuki et al.   CELL

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

(2018) Ian T. Fiddes et al.   CELL

Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex

(2018) Marta Florio et al.   eLife

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

(2016) Jun Sone et al.   BRAIN