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

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

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

Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination

(2020) Alexander Mensch et al.   JOURNAL OF NEUROLOGY

Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review

(2020) Yiqi Liu et al.   JOURNAL OF CLINICAL NEUROSCIENCE

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

RNA toxicity in non‐coding repeat expansion disorders

(2019) Bart Swinnen et al.   EMBO JOURNAL

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

(2019) Qi-Ying Sun et al.   BRAIN

Essential phenotypes of NOTCH2NLC-related repeat expansion disorder

(2019) Ana Westenberger et al.   BRAIN

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

GNE myopathy in Chinese population: hotspot and novel mutations

(2018) Yang Chen et al.   JOURNAL OF HUMAN GENETICS

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

(2018) Alicia Alonso-Jimenez et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

(2015) Juan Zhao et al.   PLoS One

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

(2014) Giorgio Tasca et al.   PLoS One

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

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

(2012) Andrea Mignarri et al.   NEUROMUSCULAR DISORDERS

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

(2011) H. Durmus et al.   NEUROLOGY

Neuromuscular imaging in inherited muscle diseases

(2010) Mike P. Wattjes et al.   EUROPEAN RADIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY