GGC Repeat Expansion of RILPL1 is Associated with 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

Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions

(2022) Zhi-Dong Zhou et al.   Nature Reviews Neurology

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

(2021) Jiaxi Yu et al.   BRAIN

Pathogenic LRRK2 regulates ciliation probability upstream of tau tubulin kinase 2 via Rab10 and RILPL1 proteins

(2021) Yuriko Sobu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

(2021) Dale J. Annear et al.   Scientific Reports

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

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

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

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

(2020) Alessandra Ruggieri et al.   ACTA NEUROPATHOLOGICA

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

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

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

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

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

(2018) Xiang-Ping Yao et al.   NEURON

A pathway for Parkinson’s Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain

(2018) Herschel S Dhekne et al.   eLife

Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation

(2017) Giovana B. Bampi et al.   NEUROMOLECULAR MEDICINE

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

(2017) Simon Fishilevich et al.   Database-The Journal of Biological Databases and Curation

Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

(2017) Qian Liu et al.   Genome Medicine

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

(2016) Jun Sone et al.   BRAIN

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

A promoter-level mammalian expression atlas

(2014)   NATURE

Primary cilia control hedgehog signaling during muscle differentiation and are deregulated in rhabdomyosarcoma

(2014) W. Fu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Peter K. Todd et al.   NEURON

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011) H. Durmus et al.   NEUROLOGY

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

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

(2010) Chantal Sellier et al.   EMBO JOURNAL

Generating linkage mapping files from Affymetrix SNP chip data

(2009) M. Bahlo et al.   BIOINFORMATICS

GOSPEL: A Neuroprotective Protein that Binds to GAPDH upon S-Nitrosylation

(2009) Nilkantha Sen et al.   NEURON