Results 131 to 140 of about 65,541 (228)

Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia

Frontiers in Neurology
Background and objectiveHereditary ataxia (HA) encompasses a diverse group of neurological disorders characterized by significant clinical and genetic heterogeneity. This case series study aims to present a case series of HA from Southwest China, thereby
Liqi Guo, Liqi Guo, Fangrui Wu, Fangrui Wu, Yuxi Wang, Xiaoping Xiong, Min Zhong, Min Zhong   +7 more
doaj   +1 more source

Ataxia-telangiectasia syndrome

Pediatrics & Neonatology, 2022
Joana Fortuna, Ana Luisa Rodrigues, Paula Pires   +2 more
openaire   +2 more sources

Evaluating the efficacy of DNA repair biomarkers to assess human cell response to chemotherapy using imaging flow cytometry [PDF]

, 2013
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Chemotherapy and radiotherapy are widely accepted as common forms of treatment for cancers. The majority of cancer patients receive chemotherapy alone or in
Zahir, Sheba Adam
core  

Cytoskeletal pathology in ataxia-telangiectasia.

, 1988
Neuropathological features of a case of ataxia-telangiectasia are reported. The main findings were the presence of Lewy bodies, cytoplasmic inclusions and axonal spheroids in the brainstem nuclei; pathological changes of spinal cord closely resembled ...
CAVALLARO, Tiziana, E. Nardelli, RIZZUTO, Nicolo', MONACO, Salvatore, G. Moretto   +4 more
core  

Eye in ataxia telangiectasia

BMJ Case Reports, 2023
Uddalak Chakraborty, Atanu Chandra, Sugata Dasgupta   +2 more
openaire   +2 more sources

Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia

, 1997
From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core  

Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM

, 2002
Chromosome aberrations, genomic instability, and cancer predisposition are hallmarks of a number of syndromes in which the defective genes recognize and/or repair DNA damage or are involved in some aspect of DNA processing.
Fukao, T (15560078), Kondo, N (15560084), Beresten, S (15560102), Chen, P (15559889), Lees-Miller, S (15560105), Peng, C (15559970), Beamish, H (15560093), Nuri Guven (14738161), Purdie, D (15492923), Ellis, N (15498383), Kaneko, H (15560099), Lavin, MF (15537797), Kedar, P (15560096)   +12 more
core  

Familial Ataxia-telangiectasia [PDF]

Archives of Disease in Childhood, 1961
J D, Pickup, R J, Pugh
openaire   +2 more sources

Case Reports A case of ataxia telangiectasia

, 2014
Ataxia telangiectasia (AT) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurological impairment, cerebellar ataxia ...
S Jeyabalan, Savithri Dias
core  

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis. [PDF]

Front Pediatr
Song H, Lin Y, Xian Y.
europepmc   +1 more source