Chapter 34 - Visually evoked potentials

Autor: Creel, Donnell Joseph ^*

Publikováno v: In Handbook of Clinical Neurology 2019 160:501-522

Visual System Anomalies in Human Ocular Albinos

Autor: Creel, Donnell, O'Donnell,, Frank E., Witkop,, Carl J.

Publikováno v: Science, 1978 Sep 01. 201(4359), 931-933.

Externí odkaz: https://www.jstor.org/stable/1746920

Abnormal Visual Pathways in Normally Pigmented Cats that are Heterozygous for Albinism

Autor: Leventhal, Audie G., Vitek, Dagmar J., Creel, Donnell J.

Publikováno v: Science, 1985 Sep . 229(4720), 1395-1397.

Externí odkaz: https://www.jstor.org/stable/1695473

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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Autor: Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G W, Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M, Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F, Manchester, David, Boyer, Philip J, Manzur, Adnan Y, Lourenco, Charles Marques, Pilz, Daniela T, Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K, Rogers, R Curtis, Ryan, Monique M, Brown, Natasha J, McLean, Catriona A, Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A, Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

Publikováno v: Brain, 139(Part 3), 765-781. Oxford University Press
Brain
Byrne, S, Jansen, L, U-King-im, J M, Siddiqui, A, Lidov, H G W, Bodi, I, Smith, L, Mein, R, Cullup, T, Dionisi-Vici, C, Al-Gazali, L, Al-Owain, M, Bruwer, Z, Al Thihli, K, El-Garhy, R, Flanigan, K M, Manickam, K, Zmuda, E, Banks, W, Gershoni-Baruch, R, Mandel, H, Dagan, E, Raas-Rothschild, A, Barash, H, Filloux, F, Creel, D, Harris, M, Hamosh, A, Kölker, S, Ebrahimi-Fakhari, D, Hoffmann, G F, Manchester, D, Boyer, P J, Manzur, A Y, Lourenco, C M, Pilz, D T, Kamath, A, Prabhakar, P, Rao, V K, Rogers, R C, Ryan, M M, Brown, N J, McLean, C A, Said, E, Schara, U, Stein, A, Sewry, C, Travan, L, Wijburg, F A, Zenker, M, Mohammed, S, Fanto, M, Gautel, M & Jungbluth, H 2016, ' EPG5-related Vici syndrome : A paradigm of neurodevelopmental disorders with defective autophagy ', Brain, vol. 139, no. 3, pp. 765-781 . https://doi.org/10.1093/brain/awv393

Vici syndrome is a progressive neurodevelopmental multisystem disorder caused by mutations in the autophagy gene EPG5. Byrne et al. characterise the phenotype of 50 affected children, revealing callosal agenesis, cataracts, hypopigmentation, cardiomy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0432db0bdd661dc28cc6ec18a59027fa
https://pubmed.ncbi.nlm.nih.gov/27343258