Výsledky vyhledávání

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

Autor: A Reiman, V Srinivasan, G Barone, J I Last, L L Wootton, E G Davies, M M Verhagen, M A Willemsen, C M Weemaes, P J Byrd, L Izatt, D F Easton, D J Thompson, A M Taylor

Publikováno v: British Journal of Cancer
British Journal of Cancer, 105, 586-91
British Journal of Cancer, 105, 4, pp. 586-91

Contains fulltext : 97089.pdf (Publisher’s version ) (Closed access) BACKGROUND: Immunodeficiency in ataxia telangiectasia (A-T) is less severe in patients expressing some mutant or normal ATM kinase activity. We, therefore, determined whether expr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ff12348813b67c306f369d90f14de54
http://europepmc.org/articles/PMC3170966

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Clinical spectrum of ataxia-telangiectasia in adulthood

Autor: M.M.M. Verhagen, W. F. Abdo, M. A.A.P. Willemsen, F. B.L. Hogervorst, D. F.C.M. Smeets, J. A.P. Hiel, E. R. Brunt, M. A. van Rijn, D. Majoor Krakauer, R. A. Oldenburg, A. Broeks, J. I. Last, L. J. van't Veer, M. A.J. Tijssen, A. M.I. Dubois, H. P.H. Kremer, C. M.R. Weemaes, A. M.R. Taylor, M. van Deuren

Publikováno v: Neurology, 73, 6, pp. 430-7
Neurology, 73(6), 430-437. Lippincott Williams and Wilkins
Neurology, 73(6), 430-437. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 73, 430-7
Neurology, 73(6), 430-437. Lippincott Williams & Wilkins

Contains fulltext : 79696.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To describe the phenotype of adult patients with variant and classic ataxia-telangiectasia (A-T), to raise the degree of clinical suspicion for the diagnosis variant A-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe0471cd48af28f57e2acfe6eec3b83
https://doi.org/10.1212/wnl.0b013e3181af33bd

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Ataxia telangiectasia: more variation at clinical and cellular levels

Autor: A M R, Taylor, Z, Lam, J I, Last, P J, Byrd

Publikováno v: Clinical genetics. 87(3)

Ataxia telangiectasia (A-T) is a rare recessively inherited disorder resulting in a progressive neurological decline. It is caused by biallelic mutation of the ATM gene that encodes a 370 kDa serine/threonine protein kinase responsible for phosphoryl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6b5e6d603cc91ab473a1351149096f64
https://pubmed.ncbi.nlm.nih.gov/25040471

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Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia

Autor: P J Byrd, V Srinivasan, J I Last, A Smith, P Biggs, E F Carney, A Exley, C Abson, G S Stewart, L Izatt, A M Taylor

Publikováno v: British Journal of Cancer

Background: Severe early and late radiation reaction to radiotherapy is extremely rare in breast cancer patients. Such a reaction prompted an investigation into a 44-year-old mother (patient A-T213). Methods: A neurological examination was performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8567b9212686ca3f6b1949b19504df5f
https://pubmed.ncbi.nlm.nih.gov/22146522

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Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

Autor: J.A.P. Hiel, B. G.M. van Engelen, C. M.R. Weemaes, A. Broeks, A. Verrips, H. ter Laak, H. M. Vingerhoets, L. P.W. van den Heuvel, M. Lammens, F. J.M. Gabreels, J. I. Last, A. M.R. Taylor

Publikováno v: Neurology, 67, 2, pp. 346-9
Neurology, 67, 346-9

Contains fulltext : 49467.pdf (Publisher’s version ) (Closed access) The authors report four adult-onset ataxia telangiectasia (AT) patients belonging to two families lacking pronounced cerebellar ataxia but displaying distal spinal muscular atroph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ec6b5989a2061b4af0a81840cdd831
https://doi.org/10.1212/01.wnl.0000224878.22821.23

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POG02 Variant ataxia telangiectasia in siblings with normal -fetoprotein levels

Autor: C. Albertyn, N. Cawley, A. T. M. Taylor, V. Srinivasan, J. I. Last, R. P. Murphy

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 81:e48-e48

Introduction Ataxia telangiectasia (A-T) is a multisystem, degenerative disorder caused by mutation of the A-T mutated ( ATM ) gene. Classic A-T presents with ataxia and ocular telangiectasia in association with immunodeficiency, increased risk for m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1178fa1049fabcf0e1e4c0ef4b22d94d
https://doi.org/10.1136/jnnp.2010.226340.124

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