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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Fig. 1

NIID clinical findings. The findings of brain MRI and skin biopsy. A-B: T2 weighted images showed leukoencephalopathy (A Case 1 and B Case 4). C–D Diffusion-weighted imaging (DWI) showed an abnormally high-intensity signal in the corticomedullary junction (C Case 2 and D Case 3). E–H Skin biopsy findings of NIID cases. Immunostaining showed intranuclear inclusions in the fibroblasts (E: Case 2, F: Case 3) with anti-ubiquitin antibody, sweat gland cells (G: Case 1), and adipocytes (H: Case 4) with anti-p-62 antibody. Scale bars: 10 μm

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Acta Neuropathologica Communications

ISSN: 2051-5960

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