Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

BL Fogel, S Perlman - The Lancet Neurology, 2007 - thelancet.com
Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a
diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly …

Clinical radiation sensitivity with DNA repair disorders: an overview

JM Pollard, RA Gatti - International Journal of Radiation Oncology* Biology …, 2009 - Elsevier
Adverse reactions to radiotherapy represent a confounding phenomenon in radiation
oncology. These reactions are rare, and many have been associated with individuals with …

Cancer and neurodegeneration: between the devil and the deep blue sea

H Plun-Favreau, PA Lewis, J Hardy, LM Martins… - PLoS …, 2010 - journals.plos.org
Cancer and neurodegeneration are often thought of as disease mechanisms at opposite
ends of a spectrum; one due to enhanced resistance to cell death and the other due to …

DNA double-strand break repair of blood lymphocytes and normal tissues analysed in a preclinical mouse model: implications for radiosensitivity testing

CE Rübe, S Grudzenski, M Kühne, X Dong… - Clinical Cancer …, 2008 - AACR
Purpose: Radiotherapy is an effective cancer treatment, but a few patients suffer severe
radiation toxicities in neighboring normal tissues. There is increasing evidence that the …

Genetic determinants at the interface of cancer and neurodegenerative disease

LGT Morris, S Veeriah, TA Chan - Oncogene, 2010 - nature.com
It has been hypothesized that oncogenesis and neurodegeneration may share common
mechanistic foundations. Recent evidence now reveals a number of genes in which …

Ataxia telangiectasia syndrome: moonlighting ATM

M Zaki-Dizaji, SM Akrami, H Abolhassani… - Expert Review of …, 2017 - Taylor & Francis
ABSTRACT Introduction: Ataxia-telangiectasia (AT) a multisystem disorder primarily
characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer …

The ATM gene and ataxia telangiectasia

A Mavrou, GT Tsangaris, E Roma… - Anticancer research, 2008 - ar.iiarjournals.org
Ataxia telangiectasia (AT) is a rare neurodegenerative, autosomal recessive disorder
characterized by chromosome instability, radiosensitivity, immunodeficiency and a …

Ataxia–telangiectasia

SL Perlman, E Boder, RP Sedgewick… - Handbook of clinical …, 2012 - Elsevier
The first description of patients with ataxia–telangiectasia (AT) was published in French in
1926 by the internist Ladislav Syllaba and the neurologist Kamil Henner (Syllaba and …

ALC1/CHD1L, a chromatin-remodeling enzyme, is required for efficient base excision repair

M Tsuda, K Cho, M Ooka, N Shimizu, R Watanabe… - PLoS …, 2017 - journals.plos.org
ALC1/CHD1L is a member of the SNF2 superfamily of ATPases carrying a macrodomain
that binds poly (ADP-ribose). Poly (ADP-ribose) polymerase (PARP) 1 and 2 synthesize poly …

DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities

CE Rübe, A Fricke, R Schneider, K Simon… - International Journal of …, 2010 - Elsevier
PURPOSE: To evaluate, in a pilot study, the phosphorylated H2AX (γH2AX) foci approach
for identifying patients with double-strand break (DSB) repair deficiencies, who may …