The natural history of ataxia-telangiectasia (AT): a systematic review

E Petley, A Yule, S Alexander, S Ojha… - PLoS One, 2022 - journals.plos.org
Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite, multistage monitoring of neurodegeneration

G Öz, IH Harding, J Krahe, K Reetz - Current opinion in neurology, 2020 - journals.lww.com
MR imaging and spectroscopy in degenerative ataxias: toward... : Current Opinion in
Neurology MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite …

Neurofilament light chain is a biomarker of neurodegeneration in ataxia telangiectasia

H Donath, S Wölke, R Schubert, M Kieslich, M Theis… - The cerebellum, 2021 - Springer
Ataxia telangiectasia (AT) is a progressive and life-limiting disease associated with
cerebellar ataxia due to progressive cerebellar degeneration. In addition to ataxia, which is …

Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey

H Mutlu-Albayrak, E Kırat, G Gürbüz - neurogenetics, 2020 - Springer
Autosomal recessive ataxias (ARAs) are a heterogeneous group of inherited
neurodegenerative disorders that affect the cerebellum, the spinocerebellar tract, and/or the …

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family

Q Zhou, M Chen, E Tao - Frontiers in Genetics, 2024 - frontiersin.org
Ataxia-Telangiectasia (AT) is a rare, autosomal recessive disorder characterized by
progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, and …

The spectrum of ATM gene mutations in Iranian patients with ataxia‐telangiectasia

P Amirifar, MR Ranjouri… - Pediatric Allergy and …, 2021 - Wiley Online Library
Abstract Background Ataxia‐telangiectasia (A‐T) is a rare genetic disorder characterized by
a distinct range of clinical manifestations, including progressive ataxia, immunodeficiency …

Analysis of Clinical and Genetic Characterization of Three Ataxia–Telangiectasia Pedigrees With Novel ATM Gene Mutations

P Huang, L Zhang, L Tang, Y Ren, H Peng… - Frontiers in …, 2022 - frontiersin.org
Objective The clinical manifestations of ataxia–telangiectasia (AT) are very complex and are
easily misdiagnosed and missed. The purpose of this study was to explore the clinical …

Частная дерматоонкология

ВД Елькин, ЛС Митрюковский, ТГ Седова - 2018 - elibrary.ru
Предлагаемая читателям монография является продолжением предыдущей («Частная
дерматоонкология. Опухоли, опухолеподобные образования и пороки развития …

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

EA Arslan, R Göçmen, KK Oğuz, GD Konuşkan… - Acta Neurologica …, 2017 - Springer
Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous.
The purpose of this study was to develop a practical and time-efficient approach to …

Exploring neurodegeneration in Ataxia-Telangiectasia

MY Tiet - 2024 - repository.cam.ac.uk
Ataxia-Telangiectasia (AT) is a very rare autosomal recessive DNA repair disorder. The
condition is characterised by a progressive neurodegenerative disorder. Cancer …