Results 131 to 140 of about 53,382 (220)

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

"ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients "

Iranian Journal of Allergy, Asthma and Immunology, 2004
Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition.
Toshio MiyawakiMohammad Hossein Sanati, Behnaz Bayat, Ahmad Aleyasin, Hasti Atashi Shirazi, Anna Isaian, Abolhassan Farhoudi, Mostafa Moin   +6 more
doaj  

ATAXIA-TELANGIECTASIA

Medicine, 1972
D E, McFarlin, W, Strober, T A, Waldmann
openaire   +2 more sources

Ataxia-telangiectasia syndrome

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

Poly(ADP-Ribosyl)ation affects stabilization of CHE-1 protein in response to DNA damage [PDF]

, 2011
Post-translation modifications play a crucial role in coordinating the cellular response to DNA damage. Double strand DNA breaks (DSBs) trigger the activation of ATM and Chk2 kinases, which represent the primary transducers in the signalling cascade ...
BACALINI, MARIA GIULIA
core  

Case Report: Neuro-Imaging Findings in Ataxia Telangiectasia

Journal of Rehabilitation, 2004
Ataxia Telangiectasia (AT) is an autosomal recessive inherited disorder in which cutaneous and scleral Telangiectasia, cerebellar ataxia and immunodeficiency occur.
Farhad Mahvelati, Seyyed Hossein Tonekaboni   +1 more
doaj  

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

Stemness factor Sall4 is required for DNA damage response in embryonic stem cells. [PDF]

, 2015
Mouse embryonic stem cells (ESCs) are genetically more stable than somatic cells, thereby preventing the passage of genomic abnormalities to their derivatives including germ cells. The underlying mechanisms, however, remain largely unclear. In this paper,
Briggs, Steven P, Kim, Jinchul, Lee, Pei-Jen, Shen, Zhouxin, Su, Ning-Yuan, Todorova, Dilyana, Xiong, Jianhua, Xu, Yang   +7 more
core  

Ataxia-telangiectasia: future prospects

The Application of Clinical Genetics, 2014
Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by
Chaudhary MW, Al-Baradie RS
doaj  

Familial Ataxia-telangiectasia [PDF]

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