Cerebral hypomyelination associated with biallelic variants of FIG4

Autor: Chloe A Stutterd, Miriam Fanjul-Fernández, Moira Blyth, Tiong Yang Tan, Victoria Rodriguez-Casero, Simon Sadedin, Paul J. Lockhart, Ian Craven, Daniel Warren, John H. Livingston, Adeline Vanderver, John Christodoulou, Gayatri Vadlamani, Ian R. Berry, Jonathan B Ruddle, Guy M. Lenk, Susan M. White, Susan Gibb, Lydia Green, Richard J. Leventer, Olga Skibina, Miriam H. Meisler, Cas Simons

Publikováno v: Human Mutation. 40:619-630

The lipid phosphatase gene FIG4 is responsible for Yunis-Varon syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) whi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ed5fded92c7b3609cd0a3b2741e26c2
https://doi.org/10.1002/humu.23720

Tuberous sclerosis

Autor: Frank Gaillard, Ian Craven

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d9c1eb485799c3c566a9dffecd679d48
https://doi.org/10.53347/rid-78605

Should we be moving to a national standardized non-gadolinium MR imaging protocol for the surveillance of vestibular schwannomas?

Autor: Philip Ayres, Jeremy Macmullen-Price, Andrew Scarsbrook, David Saunders, Caroline Tait, Stuart Currie, Ceryl Harwood, Ian Craven, Sanjay Verma

Publikováno v: The British journal of radiology. 92(1096)

OBJECTIVES: To examine whether the model of Getting It Right First Time (GIRFT) could be relevant to the surveillance of non-operated vestibular schwannomas (vs) by testing the following hypotheses: (1) in the UK there is a great variation in the ima

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1eef4ee401c88fa7f203eda57df86ae
https://pubmed.ncbi.nlm.nih.gov/30633539

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease

Autor: Eamonn Sheridan, Anne Marie Childs, Dan Warren, Helen McCullagh, Ian R. Berry, Katrina Prescott, Lydia Green, Nick Camm, Marjo S. van der Knaap, Ian Craven, John H. Livingston, Sandhya Jose

Publikováno v: Neuropediatrics, 49(2), 118-122. Hippokrates Verlag GmbH
Green, L, Berry, I R, Childs, A M, Mccullagh, H, Jose, S, Warren, D, Craven, I, Camm, N, Prescott, K, van der Knaap, M S, Sheridan, E & Livingston, J H 2018, ' Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease ', Neuropediatrics, vol. 49, no. 2, pp. 118-122 . https://doi.org/10.1055/s-0037-1608921

Alexander disease (AD) is a leukodystrophy caused by heterozygous mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Currently, de novo heterozygous missense mutations in the GFAP gene are identified in over 95% of patients wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3126baf0b8a6d8f1e347258525ae2fea
https://research.vumc.nl/en/publications/62faa8d6-af84-45d2-816d-42ec3e9e2ba1

Hitchcock and small-gauge: Shaping the amateur fiction film

Autor: Ian Craven

Publikováno v: Journal of Media Practice. 13:19-44

Amateur film frequently earns its cultural value and claim to preservation as evidential substrate, a moving record of the past, with credibility rooted in the automatism of the cinematic apparatus and the indexicality of the photographic sign. Such

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a8009f926d5da94f594918c1b0fb97f0
https://doi.org/10.1386/jmpr.13.1.19_1