Results 91 to 100 of about 53,964 (227)

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia

NeuroImage: Clinical, 2020
Background: Ataxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Rob A Dineen, Felix Raschke, Hannah L McGlashan, Stefan Pszczolkowski, Lorna Hack, Andrew D Cooper, Manish Prasad, Gabriel Chow, William P Whitehouse, Dorothee P Auer   +9 more
doaj   +1 more source

Cellular Radiosensitivity: How much better do we understand it? [PDF]

, 2009
Purpose: Ionizing radiation exposure gives rise to a variety of lesions in DNA that result in genetic instability and potentially tumorigenesis or cell death.
Agrawal A, Ahel I, Ahnesorg P, Ali A, Anderson RM, Awa AA, Azzam E.I., Bailey SM, Bakkenist CJ, Beamish H, Bedford JS, Bedford JS, Bender MA, Berkovich E, Biedermann KA, Blunt T, Booth C, Bosma GC, Breslin C, Brown GL, Brown JM, Buck D, Carney JP, Cerosaletti K, Cerosaletti K, Chan DW, Chan DW, Chapman JD, Chen P.C., Clements PM, Cornforth MN, Cornforth MN, Cornforth MN, Curtis SB, Davis ME, de Jager M, Deans B, Dianor II, Ding Q, Dizdaroglu M, Doil C, El-Khamisy SF, El-Khamisy SF, Emmerson PT, Falck J, Falck J, Foray N, Game JC, Gao Y, Gatti RA, Georgakilas AG, Germain M, Godthelp BC, Goffman TE, Goldman M, Goldstein L, Goodarzi AA, Goodarzi AA, Goodhead DT, Grawunder U, Gueven N, Gueven N, Gueven N, Hirano M, Ho KS, Ho KY, Holliday R, Hopfner KP, Houldsworth J, Huen MS, Iliakis G, Iliakis G, Iliakis G, Jackson SP, Jazayeri A, Jeggo PA, Jeggo PA, Jeggo PA, Jeggo PA, Joiner MC, Joiner MC, Kankura T, Kastan MB, Kato TA, Kemp LM, Kemp LM, Khanna KK, Kitagawa R, Kolas NK, Kozlov SV, Krueger SA, Kurz EU, Lavin MF, Lavin MF, Lehmann AR, Li Z, Lindahl T, Lisker R, Little JB, Liu N, Liu Y, Lobrich M, Lockart RZ, Loken MK, Macklis RM, Mailand N, Marples B, Marples B, Martin F. Lavin, Maser RS, Miller RW, Mirzoeva OK, Morgan WF, Morgan WF, Moshous D, Mothersill C, Moynahan ME, Muhlmann-Diaz MC, Muller B, Nakamura J, Neel JV, Nelms BE, Nicolas N, Nikjoo H, O'Driscoll M, O'Driscoll M, Olive PL, Olive PL, Otake M, Ouyang H, Painter RB, Pandita TK, Parsons PA, Paull TT, Paull TT, Paull TT, Penny Jeggo, Peters LJ, Potten CS, Pourquier P, Pourquier P, Purdy JA, Radford IR, Radford JR, Ratnayake RK, Resnick MA, Riballo E, Robins HI, Rothkamm K, Rothkamm K, Rothkamm K, Royal HD, Samson L, Savitsky K, Sax K, Sedgwick RP, Shinohara A, Shreeram S, Singh NP, Spivak G, Stamato TD, Stamato TD, Stewart GS, Stewart GS, Stewart GS, Strzelczyk JJ, Sun Y, Sun Y., Sutherland JC, Taccioli GE, Takashima H, Tapio S, Taylor AM, Taylor AMR, Teoule R, Terasima T, Thacker J, Thacker J, Thacker J, Thierry-Chef I, Thompson LH, Thompson LH, Uziel T, van den Bosch M, van der Schans GP, Varon R, von Sonntag C, Walker JR, Wall BF, Wallach DF, Waltes R, Ward IM, Ward JF, Ward JF, Weemaes CMR, Whitmore GF, Willetts NS, Williams RS, Wolff S, Wolff S, Wolff S, Wolff S, Woo SY, Wood RD, Wykes SM, Wyman C, Yoshimaru H, Yoshimoto Y, You Z, Zdzienicka MZ, Zdzienicka MZ, Zdzienicka MZ, Zhao W, Zhou T, Ziv Y   +214 more
core   +1 more source

Interventional oncology in children: Where are we now?

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel, Fernando Gómez Muñoz   +1 more
wiley   +1 more source

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. [PDF]

, 2001
BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs.
Barbot, C., Barros, J., Chorão, R., Coutinho, P., Dias, K., Ferreira, C., Fineza, I., Guimarães, A., Mendonça, P., Monteiro, J., Moreira, M., Sequeiros, J.   +11 more
core  

Predominance of null mutations in ataxia-telangiectasia [PDF]

, 1996
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition.
Bar-Shira, A. (Anat), Chessa, T. (Antonio), Frydman, M. (Moshe), Gatti, A. (Arianna), Gilad, S. (Shlomit), Goldwicz, Z. (Zipora), Harnik, R. (Reli), Jaspers, N.G.J. (Nicolaas), Jorgensen, T.J. (Timothy), Khosravi, R. (Rami), Lavin, M.F. (Martin), Lenoir, G.M. (Gilbert), Portnoi, S. (Sima), Rotman, G. (Galit), Sanal, O. (Ozden), Savitsky, K. (Kinneret), Shiloh, Y. (Yosef), Shkedy, D. (Dganit), Smith, S. (Sarah), T. Uziel (Tamar), Tatsumi, K. (Kouichi), Wegner, M. (Michael), Ziv, Y. (Yael)   +22 more
core   +2 more sources

Management of Primary Refractory Diffuse Large B‐Cell Lymphoma in Patients Unsuitable for CAR T‐Cell Therapy

European Journal of Haematology, EarlyView.
ABSTRACT Primary refractory Diffuse Large B‐Cell Lymphoma is associated with poor outcomes and limited responsiveness to conventional salvage therapies. Although CAR T‐cell therapy represents the standard of care in this setting, a substantial proportion of patients cannot receive it despite meeting disease‐related criteria. In this review, “unsuitable”
Santino Caserta, Enrica Antonia Martino, Mamdouh Skafi, Maria Eugenia Alvaro, Antonella Bruzzese, Nicola Amodio, Eugenio Lucia, Virginia Olivito, Caterina Labanca, Francesco Mendicino, Ernesto Vigna, Fortunato Morabito, Massimo Gentile   +12 more
wiley   +1 more source

MRE11 facilitates the removal of human topoisomerase II complexes from genomic DNA [PDF]

, 2012
Topoisomerase II creates a double-strand break intermediate with topoisomerase covalently coupled to the DNA via a 5'-phosphotyrosyl bond. These intermediate complexes can become cytotoxic protein-DNA adducts and DSB repair at these lesions requires ...
Austin, Caroline, Cockell, Simon, Cowell, Ian, Curtis, Hannah, Jackson, Graham, Lee, Ka Cheong, Moiani, Davide, Morris, Nicholas, Padget, Kay, Sondka, Zbyslaw, Tainer, John   +10 more
core   +3 more sources

Incidental Colorectal Adenomas in Adolescents: Clinical Management, Genetic Evaluation, and Surveillance

Journal of Gastroenterology and Hepatology, EarlyView.
Adolescents with incidental colorectal adenomas require age‐conscious management balancing referral for genetic counseling with evidence‐based surveillance. This narrative review proposes a pragmatic clinical algorithm integrating adenoma characteristics, hereditary risk assessment, and guideline‐concordant follow‐up to support individualized ...
Brett J. Hoskins, Shlomi Cohen, Colleen B. Flahive, Isabel Rojas, Aparajita Singh, Thomas M. Attard   +5 more
wiley   +1 more source

Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study

NeuroImage: Clinical, 2015
Background: Our understanding of the effect of ataxia–telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion
Ishani Sahama, Kate Sinclair, Simona Fiori, James Doecke, Kerstin Pannek, Lee Reid, Martin Lavin, Stephen Rose   +7 more
doaj   +1 more source

Damage-induced phosphorylation of Sld3 is important to block late origin firing. [PDF]

, 2010
Origins of replication are activated throughout the S phase of the cell cycle such that some origins fire early and others fire late to ensure that each chromosome is completely replicated in a timely fashion.
Defazio-Eli, Lisa G, Jonsson, Zophonias O, Lopez-Mosqueda, Jaime, Maas, Nancy L, Toczyski, David P, Wohlschlegel, James   +5 more
core   +2 more sources