Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes

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