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

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

(2021) Jiaxi Yu et al.   BRAIN

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

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

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

(2020) Mingming Li et al.   BMC Neurology

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

Neuronal intranuclear inclusion disease is genetically heterogeneous

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

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

(2020) Jianying Xi 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

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

(2019) Andrea Cortese et al.   NATURE GENETICS

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

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

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report

(2019) Chiara Cupidi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

New pathologic mechanisms in nucleotide repeat expansion disorders

(2019) C.M. Rodriguez et al.   NEUROBIOLOGY OF DISEASE

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

Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation

(2017) Fen-Biao Gao et al.   NEURON

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

(2016) Jun Sone et al.   BRAIN

Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults

(2016) Junko Takahashi-Fujigasaki et al.   Geriatrics & Gerontology International

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

(2015) Renate K. Hukema et al.   HUMAN MOLECULAR GENETICS

The Ku heterodimer: Function in DNA repair and beyond

(2015) Victoria L. Fell et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

The clinical impact of deficiency in DNA non-homologous end-joining

(2014) Lisa Woodbine et al.   DNA REPAIR

One ring to bring them all—The role of Ku in mammalian non-homologous end joining

(2014) Gabrielle J. Grundy et al.   DNA REPAIR

Extensive translation of small Open Reading Frames revealed by Poly-Ribo-Seq

(2014) Julie L Aspden et al.   eLife

Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy

(2013) J. Sone et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Unstable Repeats—Three Evolving Faces of Neurological Disease

(2013) David L. Nelson et al.   NEURON

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

Ubiquitin-related proteins in neuronal and glial intranuclear inclusions in intranuclear inclusion body disease

(2012) Fumiaki Mori et al.   PATHOLOGY INTERNATIONAL

Aggregation of Capped Hexaglycine Strands into Hydrogen-Bonding Motifs Representative of Pleated and Rippled β-Sheets, Collagen, and Polyglycine I and II Crystal Structures. A Density Functional Theory Study

(2011) Joshua A. Plumley et al.   JOURNAL OF PHYSICAL CHEMISTRY B

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

(2011) J. Sone et al.   NEUROLOGY

Molecular and supramolecular studies on polyglycine and poly-l-proline

(2011) Marina Lorusso et al.   Soft Matter

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inclusion-positive cell types in adult-onset intranuclear inclusion body disease: implications for clinical diagnosis

(2008) Ying Liu et al.   ACTA NEUROPATHOLOGICA