Zobrazeno 1 - 10
of 179
pro vyhledávání: '"William P Whitehouse"'
Publikováno v:
PLoS ONE, Vol 17, Iss 3, p e0264177 (2022)
BackgroundAtaxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of th
Externí odkaz:
https://doaj.org/article/7cdc1f3759e74527a16647edf75b837a
Autor:
Rob A Dineen, Felix Raschke, Hannah L McGlashan, Stefan Pszczolkowski, Lorna Hack, Andrew D Cooper, Manish Prasad, Gabriel Chow, William P Whitehouse, Dorothee P Auer
Publikováno v:
NeuroImage: Clinical, Vol 25, Iss , Pp - (2020)
Background: Ataxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be i
Externí odkaz:
https://doaj.org/article/168ab4fdedfa43848b66fb02fec8678e
Publikováno v:
Biomedical Journal, Vol 37, Iss 2, Pp 50-59 (2014)
Pediatric multiple sclerosis (MS) represents only 2-5% of the MS population, but children with MS have a higher relapse rate and reach permanent disability at a younger age than adult-onset MS. Early and accurate diagnosis of pediatric MS is vital fo
Externí odkaz:
https://doaj.org/article/ff7ba0a0de81420a96b6d4acde6065b0
Autor:
Renata Neves, Rafal Panek, Katie Clarkson, Ouliana Panagioti, Natasha Schneider Fernandez, Sophie Wilne, Mohnish Suri, William P. Whitehouse, Sumit Jagani, Madhumita Dandapani, Cris Glazebrook, Robert A. Dineen
Publikováno v:
Cancer Medicine, Vol 13, Iss 14, Pp n/a-n/a (2024)
Abstract Background/Objectives Ataxia telangiectasia (A‐T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk. Although other cancer predisposition syndromes have established cancer screen
Externí odkaz:
https://doaj.org/article/06cc3ae5c68843c19a297c4539909959
Autor:
Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen
Publikováno v:
Cancer Medicine, Vol 12, Iss 13, Pp 14663-14673 (2023)
Abstract Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A
Externí odkaz:
https://doaj.org/article/4112859666704ce9a8573dfbcefab340
Autor:
Megan D. Kelley, Dorothy A. Thompson‐Butler, Matthew C. Tanner, Justin D. Thomason, William H. Whitehouse
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 36, Iss 6, Pp 2098-2103 (2022)
Abstract Background Acute kidney injury (AKI) in dogs has a high case fatality rate. Diltiazem might improve renal function, but effect of intravenous infusion has not been adequately studied in dogs. Hypothesis/Objectives To determine if an intraven
Externí odkaz:
https://doaj.org/article/e8e588dae08d4b22b0239fa50f89cce9
Autor:
Hannah L. McGlashan, Caroline V. Blanchard, Celia Luscombe, Manish Prasad, Gabriel Chow, Dorothee P. Auer, William P. Whitehouse, Rob A. Dineen
Publikováno v:
European Journal of Paediatric Neurology. 40:34-39
To explore neurological factors affecting quality of life (QoL) in children and young people with ataxia-telangiectasia (A-T), from both child and parent perspective.24 children/young people with A-T (mean age 11.2 ± 3.5 years; 13 males) and 20 pare
Autor:
Rob A. Dineen, William P. Whitehouse
Publikováno v:
Essentials of Cerebellum and Cerebellar Disorders ISBN: 9783031150692
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c85731158160fc4ce1fd5e03d5e2326b
https://doi.org/10.1007/978-3-031-15070-8_93
https://doi.org/10.1007/978-3-031-15070-8_93
Autor:
Dorothee P. Auer, Manish Prasad, Gabriel Chow, William P Whitehouse, Stefan Pszczolkowski, Caroline Blanchard, Simon M. L. Paine, Robert A. Dineen
Publikováno v:
AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: SWI hypointense cerebral lesions have been reported in adults with the inherited cerebellar neurodegenerative disorder ataxia telangiectasia. This study aims to establish the prevalence, age-dependency, and spatial distributio
Publikováno v:
Archives of disease in childhood. 107(12)
For this narrative review, we found recent publications on the use and effectiveness of old therapies including nutraceuticals, such as riboflavin, vitamin D, magnesium, melatonin and talking therapies. Recent large trials of established conventional