Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments

Autor: Thomas Deller, Ewout R. Brunt, A. R. La Spada, M. Kettner, C. M. Mooy, R. A. I. de Vos, Udo Rüb, I. Bechmann, C. Van Broeckhoven, Kay Seidel, W. F. A. den Dunnen, Ludger Schöls, K. Gierga

Publikováno v: Neuropathology and Applied Neurobiology, 34(2), 155-168. Wiley-Blackwell Publishing Ltd
Neuropathology and Applied Neurobiology, 34(2), 155-168. WILEY-BLACKWELL
Neuropathology and applied neurobiology

Spinocerebellar ataxia type 7 (SCA7) represents a rare and severe autosomal dominantly inherited ataxic disorder and is among the known CAG-repeat, or polyglutamine, diseases. In contrast to other currently known autosomal dominantly inherited ataxic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f2c44ce56128e5d3666f2ac0b69e104
https://doi.org/10.1111/j.1365-2990.2007.00882.x

Peters' anomaly: an unusual case

Autor: C. M. Mooy, A. Pinckers, C. A. Eggink

Publikováno v: Ophthalmic Paediatrics and Genetics. 12:19-22

The authors report on a case of congenital bilateral protruding corneal opacities. Clinical and histological examination was consistent with a diagnosis of Peters' anomaly with a defect in the endothelium and Descemet's membrane but without abnormali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf856e03c92afc3c7205b2e7acabd68d
https://doi.org/10.3109/13816819109023080

Choroidal metastasis of oesophageal squamous cell carcinoma

Autor: P. T. V. M. de Jong, C. M. Mooy, A. M. Verbeek

Publikováno v: International Ophthalmology. 14:63-71

A case report of a choroidal metastasis from an oesophageal squamous cell carcinoma is described. The computerised tomographic, ultrasonographic, histologic and immunohistochemic findings are presented with a review of the literature.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2734d5bec70adb42f297e8537078ea4e
https://doi.org/10.1007/bf00154203

Herpes simplex virus-specific T cells infiltrate the cornea of patients with herpetic stromal keratitis: no evidence for autoreactive T cells

Autor: G M, Verjans, L, Remeijer, C M, Mooy, A D, Osterhaus

Publikováno v: Investigative ophthalmologyvisual science. 41(9)

Herpetic stromal keratitis (HSK) is a T-cell-mediated inflammatory disease initiated by a herpes simplex virus (HSV) infection of the cornea. Recently, studies in the HSK mouse model have shown that the immunopathogenic T cells are directed against t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0d2e6f596abea5ee83432614ddc1d50e
https://pubmed.ncbi.nlm.nih.gov/10937573

Perinatally ruptured dermoid cyst presenting as congenital oculomotor palsy

Autor: H M, Coevoet, H M, van Minderhout, C M, Mooy, H J, Simonsz

Publikováno v: Strabismus. 8(1)

An eight-month-old girl presented with congenital exotropia and latent nystagmus. Further evaluation revealed congenital ptosis of the left eye and restriction of the elevation, depression and adduction of the left eye. A diagnosis of congenital ocul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7fcd983258c462431e5d9aba24342652
https://pubmed.ncbi.nlm.nih.gov/10855051