Semantic Scholar uses AI to extract papers important to this topic.
The nuclear lamina is a thin filamentous meshwork that provides mechanical support to the nucleus and regulates essential… Expand Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5′-UTR of FMR1… Expand Background: Families associated with missense mutations in the valosin-containing protein (VCP) present with a rare autosomal… Expand Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a… Expand BACKGROUND
Chordoid glioma is a rare, low grade neoplasm with a unique chordoid appearance as well as distinct clinicopathologic… Expand Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects some adult carriers of pre… Expand Neuronal intranuclear inclusions (NIIs) are a pathological hallmark of CAG repeat diseases. To elucidate the influence of NII… Expand Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is one of the dominantly inherited cerebellar ataxias. The gene… Expand We report morphologic, flow cytometric, and immunohistochemical findings in two cases of pleomorphic hyalinizing angiectatic… Expand Three cases are described of a primary cutaneous neoplasm occurring in elderly patients, histological and immunohistochemical… Expand