Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

(2022) Jiaxi Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2021) Jiaxi Yu et al.   BRAIN

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

(2021) Theerawat Kumutpongpanich et al.   JAMA Neurology

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy

(2021) Masashi Ogasawara et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

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

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

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

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

(2019) V. Galimberti et al.   EUROPEAN JOURNAL OF NEUROLOGY

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

(2016) Qiang Gang et al.   NEUROBIOLOGY OF AGING

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

(2011) J. Sone et al.   NEUROLOGY

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

(2011) H. Durmus et al.   NEUROLOGY