Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes
出版年份 2021 全文链接
标题
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes
作者
关键词
-
出版物
JAMA Neurology
Volume 78, Issue 7, Pages 853
出版商
American Medical Association (AMA)
发表日期
2021-05-29
DOI
10.1001/jamaneurol.2021.1509
参考文献
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。- 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
- 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
- Association of NOTCH2NLC Repeat Expansions With Parkinson Disease
- (2020) Dongrui Ma et al. JAMA Neurology
- 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
- Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
- (2019) Hiroyuki Ishiura et al. NATURE GENETICS
- Repeat associated non-ATG (RAN) translation
- (2018) John Douglas Cleary et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Quantitative analysis of skeletal muscle by computed tomography imaging—State of the art
- (2018) Klaus Engelke et al. Journal of Orthopaedic Translation
- Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials
- (2016) Giorgio Tasca et al. ANNALS OF NEUROLOGY
- Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
- (2016) Pascale Richard et al. NEUROLOGY
- Multifarious effects of 17-β-estradiol on apolipoprotein E receptors gene expression during osteoblast differentiation in vitro
- (2016) Yuyan Gui et al. BioScience Trends
- Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy
- (2015) Juan Zhao et al. PLoS One
- Mild cognitive impairment: Disparity of incidence and prevalence estimates
- (2012) Alex Ward et al. Alzheimers & Dementia
- 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
- FMR1: A gene with three faces
- (2009) Ben A Oostra et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
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