相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。RNA toxicity in non-coding repeat expansion disorders
Bart Swinnen et al.
EMBO JOURNAL (2020)
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
Qi-Ying Sun et al.
BRAIN (2020)
Essential phenotypes of NOTCH2NLC-related repeat expansion disorder
Ana Westenberger et al.
BRAIN (2020)
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
Jianwen Deng et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
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
Alexander Mensch et al.
JOURNAL OF NEUROLOGY (2020)
Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review
Yiqi Liu et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2020)
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Yun Tian et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Jun Sone et al.
NATURE GENETICS (2019)
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Hiroyuki Ishiura et al.
NATURE GENETICS (2019)
GNE myopathy in Chinese population: hotspot and novel mutations
Yang Chen et al.
JOURNAL OF HUMAN GENETICS (2019)
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alicia Alonso-Jimenez et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2019)
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Hiroyuki Ishiura et al.
NATURE GENETICS (2018)
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome
Seok Yoon Oh et al.
HUMAN MOLECULAR GENETICS (2015)
Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy
Juan Zhao et al.
PLOS ONE (2015)
Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy
Giorgio Tasca et al.
PLOS ONE (2014)
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
Vincent Plagnol et al.
BIOINFORMATICS (2012)
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis
Andrea Mignarri et al.
NEUROMUSCULAR DISORDERS (2012)
Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients
H. Durmus et al.
NEUROLOGY (2011)
Neuromuscular imaging in inherited muscle diseases
Mike P. Wattjes et al.
EUROPEAN RADIOLOGY (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Distinct muscle imaging patterns in myofibrillar myopathies
D. Fischer et al.
NEUROLOGY (2008)
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family
He Lu et al.
NEUROPATHOLOGY (2008)
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity
BM van der Sluijs et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy
N Minami et al.
NEUROMUSCULAR DISORDERS (2001)
分享论文
