Works matching DE "ATAXIA telangiectasia"

Results: 1005

Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report.

Published in:

Hong Kong Physiotherapy Journal (World Scientific), 2025, v. 45, n. 1, p. 1, doi. 10.1142/S1013702525710015

By:

Razzaqi, Fatima;
Albastaki, Aysha;
Sinan, Israa

Publication type:

Article

Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03786-1

By:

Kumasaka, Soma;
Panek, Rafal;
Neves, Renata;
Suri, Mohnish;
Jagani, Sumit;
Kumasaka, Yuka;
Tsushima, Yoshito;
Dineen, Robert A.

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1595505

By:

Guo, Liqi;
Wu, Fangrui;
Wang, Yuxi;
Xiong, Xiaoping;
Zhong, Min

Publication type:

Article

The kinase ATM delays Arabidopsis leaf senescence by stabilizing the phosphatase MKP2 in a phosphorylation-dependent manner.

Published in:

Plant Cell, 2025, v. 37, n. 4, p. 1, doi. 10.1093/plcell/koaf066

By:

Zhang, Yi;
Tan, Shuya;
Kim, Jin Hee;
Cao, Jie;
Zhao, Yaning;
Pang, Zhenpei;
Liu, Junjie;
Lv, Yonglun;
Ding, Feng;
Kim, Jeongsik;
Woo, Hye Ryun;
Xia, Xinli;
Guo, Hongwei;
Li, Zhonghai

Publication type:

Article

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03785-2

By:

de Leon, Cristiano do Amaral;
Amantea, Sérgio Luis;
Pereira, Renan Augusto;
Dantas, Ellen O.;
Loekmanwidjaja, Jéssica;
Costa-Carvalho, Beatriz T.;
Mazzucchelli, Juliana T. L.;
Aranda, Carolina S.;
González-Serrano, Maria E.;
De La Cruz Córdoba, Elizabeth Alejandra;
Bezrodnik, Liliana;
Moreira, Ileana;
Ferreira, Janaira F. S.;
Dantas, Vera M.;
Sales, Valéria S. F.;
Navarrete, Carmen L.;
Vilela, Maria M. S.;
Motta, Isabella P.;
Franco, Jose Luis;
Arango, Julio Cesar Orrego

Publication type:

Article

ATM inhibition prevents interleukin-6 from contributing to the proliferation of glioblastoma cells after ionizing radiation.

Published in:

Journal of Neuro-Oncology, 2018, v. 138, n. 3, p. 509, doi. 10.1007/s11060-018-2838-0

By:

Lim, Yi Chieh;
Quek, Hazel;
Offenhäuser, Carolin;
Fazry, Shazrul;
Boyd, Andrew;
Lavin, Martin;
Roberts, Tara;
Day, Bryan

Publication type:

Article

Keeping ribosomal DNA intact: a repeating challenge.

Published in:

Chromosome Research, 2019, v. 27, n. 1/2, p. 57, doi. 10.1007/s10577-018-9594-z

By:

Warmerdam, Daniël O.;
Wolthuis, Rob M. F.

Publication type:

Article

Conventional MRI features in progressive ataxias. Splitting or clumping?

Published in:

2021

By:

Mascalchi, Mario

Publication type:

Letter

Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI.

Published in:

Neuroradiology, 2003, v. 45, n. 5, p. 315, doi. 10.1007/s00234-003-0945-9

By:

Tavani, F.;
Zimmerman, R. A.;
Berry, G. T.;
Sullivan, K.;
Gatti, R.;
Bingham, P.

Publication type:

Article

Linking the organization of DNA replication with genome maintenance.

Published in:

Current Genetics, 2019, v. 65, n. 3, p. 677, doi. 10.1007/s00294-018-0923-8

By:

Singh, Balveer;
Wu, Pei-Yun Jenny

Publication type:

Article

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.

Published in:

2016

By:

Weiss, Batia;
Krauthammer, Alexander;
Soudack, Michalle;
Lahad, Avishay;
Sarouk, Ifat;
Somech, Raz;
Heimer, Gali;
Ben-Zeev, Bruria;
Nissenkorn, Andreea

Publication type:

journal article

DNA 病毒基因组复制与宿主细胞 DDR 信号网络互作的研究进展.

Published in:

Journal of Henan Agricultural Sciences, 2021, v. 50, n. 12, p. 1, doi. 10.15933/j.cnki.1004‑3268.2021.12.001

By:

王平利;
夏璐;
魏战勇

Publication type:

Article

Blockade of CD73 potentiates radiotherapy antitumor immunity and abscopal effects via STING pathway.

Published in:

Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-02171-4

By:

An, Ran;
Wu, Chao;
Tang, Cunyu;
Zhang, Chen;
Han, Feiru;
Xu, Zeen;
Zou, Yiping;
Wang, Jun;
Yuan, Zhiyong;
Jiang, Shengpeng;
Liu, Lijie;
Huang, Chongbiao;
Tao, Zhen

Publication type:

Article

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis.

Published in:

2023

By:

Cavone, Federica;
Cappelli, Susanna;
Bonuccelli, Alice;
D'Elios, Sofia;
Costagliola, Giorgio;
Peroni, Diego;
Orsini, Alessandro;
Consolini, Rita

Publication type:

Case Study

A Peculiar CLL Case with Complex Chromosome 6 Rearrangements and Refinement of All Breakpoints at the Gene Level by Genomic Array: A Case Report.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4110, doi. 10.3390/jcm12124110

By:

Cennamo, Michele;
Sirocchi, Davide;
Giudici, Carolina;
Giagnacovo, Marzia;
Petracco, Guido;
Ferrario, Daniela;
Garganigo, Simona;
Papa, Angela;
Veniani, Emanuela;
Squizzato, Alessandro;
Del Vecchio, Lucia;
Patriarca, Carlo;
Partenope, Michelarcangelo;
Modena, Piergiorgio

Publication type:

Article

Involvement of DNA Damage Response via the Ccndbp1–Atm–Chk2 Pathway in Mice with Dextran-Sodium-Sulfate-Induced Colitis.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 13, p. 3674, doi. 10.3390/jcm11133674

By:

Horigome, Ryoko;
Kamimura, Kenya;
Niwa, Yusuke;
Ogawa, Kohei;
Mizuno, Ken-Ichi;
Fujisawa, Koichi;
Yamamoto, Naoki;
Takami, Taro;
Sugano, Tomoyuki;
Sakamaki, Akira;
Kamimura, Hiroteru;
Takamura, Masaaki;
Terai, Shuji

Publication type:

Article

Trough Concentrations of Specific Antibodies in Primary Immunodeficiency Patients Receiving Intravenous Immunoglobulin Replacement Therapy.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 592, doi. 10.3390/jcm10040592

By:

Hassin, Ori;
Abu Freih, Yahya;
Hazan, Ran;
Lev, Atar;
Zrihen, Keren S.;
Somech, Raz;
Broides, Arnon;
Nahum, Amit;
Thai, To-Ha;
Chewning, Joseph

Publication type:

Article

Chromothripsis and DNA Repair Disorders.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 613, doi. 10.3390/jcm9030613

By:

Nazaryan-Petersen, Lusine;
Bjerregaard, Victoria Alexandra;
Nielsen, Finn Cilius;
Tommerup, Niels;
Tümer, Zeynep

Publication type:

Article

The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review.

Published in:

Cerebellum, 2024, v. 23, n. 6, p. 2607, doi. 10.1007/s12311-024-01746-2

By:

Mehri, Ali;
Toosi, Mehran Beiraghi;
Tavasoli, Ali Reza;
Saberi-Karimian, Maryam

Publication type:

Article

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.

Published in:

Cerebellum, 2024, v. 23, n. 3, p. 1239, doi. 10.1007/s12311-023-01606-5

By:

Kamate, Mahesh;
Basavanagowda, Thanuja

Publication type:

Article

Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.

Published in:

Cerebellum, 2024, v. 23, n. 2, p. 502, doi. 10.1007/s12311-023-01560-2

By:

Deacon, Simon;
Dalleywater, William;
Peat, Charles;
Paine, Simon M. L.;
Dineen, Rob A.

Publication type:

Article

The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review.

Published in:

Cerebellum, 2024, v. 23, n. 2, p. 722, doi. 10.1007/s12311-023-01555-z

By:

Khan, Munira;
Cassidy, Elizabeth;
Parkin, Tracey;
Wallace, Amanda;
Carter, Bernie;
Paton, Joanne;
Donohue, Kathryn;
Mitchell, Susan;
Quin, Gemma;
McNarry, Nicola;
Hartley, Helen;
Bailey, Hannah;
Whitehouse, William;
Medd, Rachel;
Zahidi, Asma;
McMullan, Miriam;
Bunn, Lisa

Publication type:

Article

Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia.

Published in:

Cerebellum, 2024, v. 23, n. 2, p. 455, doi. 10.1007/s12311-023-01528-2

By:

Major, Toby;
Tiet, May Yung;
Horvath, Rita;
Hensiek, Anke E.

Publication type:

Article

Correction to: Neurofilament Light Chain is a Biomarker of Neurodegeneration in Ataxia Telangiectasia.

Published in:

2022

By:

Donath, H.;
Woelke, S.;
Schubert, R.;
Kieslich, M.;
Theis, M.;
Auburger, G.;
Duecker, R. P.;
Zielen, S.

Publication type:

Correction Notice

Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia.

Published in:

Cerebellum, 2022, v. 21, n. 1, p. 39, doi. 10.1007/s12311-021-01257-4

By:

Donath, H.;
Woelke, S.;
Schubert, R.;
Kieslich, M.;
Theis, M.;
Auburger, G.;
Duecker, R. P.;
Zielen, S.

Publication type:

Article

Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.

Published in:

Cerebellum, 2021, v. 20, n. 1, p. 54, doi. 10.1007/s12311-020-01180-0

By:

Bogdanova-Mihaylova, Petya;
Hebert, Josephine;
Moran, Sharon;
Murphy, Michael;
Ward, Deirdre;
Walsh, Richard A.;
Murphy, Sinéad M.

Publication type:

Article

Altered Cerebrospinal Fluid (CSF) in Children with Ataxia Telangiectasia.

Published in:

Cerebellum, 2021, v. 20, n. 1, p. 31, doi. 10.1007/s12311-020-01175-x

By:

Woelke, S.;
Schrewe, R.;
Donath, H.;
Theis, M.;
Kieslich, M.;
Duecker, R.;
Auburger, G.;
Schubert, R.;
Zielen, S.

Publication type:

Article

Radiological Imaging in Ataxia Telangiectasia: a Review.

Published in:

Cerebellum, 2014, v. 13, n. 4, p. 521, doi. 10.1007/s12311-014-0557-4

By:

Sahama, Ishani;
Sinclair, Kate;
Pannek, Kerstin;
Lavin, Martin;
Rose, Stephen

Publication type:

Article

Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder.

Published in:

2013

By:

Palmeri, Silvia;
Rufa, Alessandra;
Pucci, Barbara;
Santarnecchi, Emiliano;
Malandrini, Alessandro;
Stromillo, Maria;
Mandalà, Marco;
Rosini, Francesca;
Stefano, Nicola;
Federico, Antonio

Publication type:

Letter

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia.

Published in:

Cerebellum, 2009, v. 8, n. 1, p. 22, doi. 10.1007/s12311-008-0055-7

By:

Carrillo, Fatima;
Schneider, Susanne A.;
Taylor, A. Malcolm R.;
Srinivasan, Venkataramanan;
Kapoor, Raj;
Bhatia, Kailash P.

Publication type:

Article

Activation of climbing fibers.

Published in:

Cerebellum, 2004, v. 3, n. 4, p. 212, doi. 10.1080/14734220410018995

By:

Gibson, Alan R.;
Horn, Kris M.;
Pong, Milton

Publication type:

Article

Medical Management of Pediatric Malignant Bowel Obstruction in a Patient with Burkitt's Lymphoma and Ataxia Telangiectasia Using Continuous Ambulatory Drug Delivery System.

Published in:

Journal of Pain & Palliative Care Pharmacotherapy, 2016, v. 30, n. 1, p. 44, doi. 10.3109/15360288.2015.1134748

By:

Ghoshal, Arunangshu;
Salins, Naveen;
Damani, Anuja;
Deodhar, Jayita;
Muckaden, M. A.

Publication type:

Article

Anesthetic Chalenges And Managment In Patient With Ataxia- Telangiectasia.

Published in:

Contributions / Prilozi (1857-9345), 2023, v. 44, n. 3, p. 65, doi. 10.2478/prilozi-2023-0048

By:

Jovanovski-Srceva, Marija;
Kondov, Goran;
Kartalov, Andrijan;
Georgiev, Antonio;
Kuzmanovski, Igor;
Osmani, Bujar;
Andov, Mishel;
Gavrilovska-Brzanov, Aleksandra;
Jakupi, Nexhati;
Stevic, Marija;
Stojanoski, Sinisa

Publication type:

Article

Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep05421

By:

Yoshihiro Fukawatase;
Masashi Toyoda;
Kohji Okamura;
Ken-ichi Nakamura;
Kazuhiko Nakabayashi;
Shuji Takada;
Mayu Yamazaki-Inoue;
Akira Masuda;
Michiyo Nasu;
Kenichiro Hata;
Kazunori Hanaoka;
Akon Higuchi;
Kaiyo Takubo;
Akihiro Umezawa

Publication type:

Article

Ataxia-Telangiectasia Mutated Modulation of Carbon Metabolism in Cancer.

Published in:

Frontiers in Oncology, 2017, p. 1, doi. 10.3389/fonc.2017.00291

By:

Dahl, Erika S.;
Aird, Katherine M.

Publication type:

Article

ATM and ATR, two central players of the DNA damage response, are involved in the induction of systemic acquired resistance by extracellular DNA, but not the plant wound response.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1175786

By:

Vega-Muñoz, Isaac;
Herrera-Estrella, Alfredo;
Martínez-de la Vega, Octavio;
Heil, Martin

Publication type:

Article

Cutaneous granuloma with ataxia telangiectasia--a case report and review of literature.

Published in:

Clinical & Experimental Dermatology, 1993, v. 18, n. 5, p. 458, doi. 10.1111/j.1365-2230.1993.tb02251.x

By:

Joshi, R.K.;
Al Asiri, R.H.;
Haleem, A.;
Abanmi, A.;
Patel, C.K.

Publication type:

Article

Mutant IDH1 Enhances Temozolomide Sensitivity via Regulation of the ATM/CHK2 Pathway in Glioma.

Published in:

Cancer Research & Treatment, 2021, v. 53, n. 2, p. 367, doi. 10.4143/crt.2020.506

By:

Lin Lin;
Jinquan Cai;
Zixiao Tan;
Xiangqi Meng;
Ruiyan Li;
Yang Li;
Chuanlu Jiang

Publication type:

Article

Inhibition of ATR Increases the Sensitivity to WEE1 Inhibitor in Biliary Tract Cancer.

Published in:

Cancer Research & Treatment, 2020, v. 52, n. 3, p. 945, doi. 10.4143/crt.2020.080

By:

Ah-Rong Nam;
Mei-Hua Jin;
Ju-Hee Bang;
Kyoung-Seok Oh;
Hye-Rim Seo;
Do-Youn Oh;
Yung-Jue Bang

Publication type:

Article

Ataxia, oculomotor apraxia and school failure: a case of ataxia-telangiectasia.

Published in:

Middle East Journal of Family Medicine, 2012, v. 10, n. 1, p. 35

By:

Boing, Letícia Soares;
dos Reis, Elisa Casanova;
Mayer, Grasiane Nunes;
Peruchi, Mirella Maccarini;
Lin, Katia;
Lin, Jaime

Publication type:

Article

Ataksi Telenjiektazide Konjonktival Telenjiektazi: Olgu Sunumu.

Published in:

2012

By:

Akarsu, Özge Pınar;
Atılgan, Cemile Üçgül;
Güven, Dilek

Publication type:

Case Study

Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia.

Published in:

2024

By:

Le Lay, Florine;
Deparis, Marianna;
Fraitag, Sylvie;
Dompmartin, Anne

Publication type:

Case Study

Rubella virus vaccine-induced granulomas: a case in children with ataxia-telangiectasia.

Published in:

2024

By:

Le Lay, Florine;
Deparis, Marianna;
Fraitag, Sylvie;
Dompmartin, Anne

Publication type:

Case Study

CENPO expression regulates gastric cancer cell proliferation and is associated with poor patient prognosis.

Published in:

Molecular Medicine Reports, 2019, v. 20, n. 4, p. 3661, doi. 10.3892/mmr.2019.10624

By:

Cao, Yi;
Xiong, Jianbo;
Li, Zhengrong;
Zhang, Guoyang;
Tu, Yi;
Wang, Lizhen;
Jie, Zhigang

Publication type:

Article

Clinical diagnosis and genetic counseling of atypical ataxia-telangiectasia in a Chinese family.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 5, p. 3441

By:

Cao, Jiangxia;
Shen, Ruiqin;
Zhang, Wenqian;
Mao, Bing;
Shi, Qirong;
Zhou, Rui;
Liu, Zijing;
Zeng, Bing;
Chen, Xiaoling;
Zhang, Cai;
Lu, Min;
Han, Peng;
Wu, Jing;
Zhou, Aifen;
Tan, Xuemei

Publication type:

Article

ATM‑JAK‑PD‑L1 signaling pathway inhibition decreases EMT and metastasis of androgen‑independent prostate cancer.

Published in:

Molecular Medicine Reports, 2018, v. 17, n. 5, p. 7045, doi. 10.3892/mmr.2018.8781

By:

Zhang, Lan;
Xu, Li-Jun;
Zhu, Jin;
Li, Jian;
Xue, Bo-Xin;
Gao, Jie;
Sun, Chuan-Yang;
Zang, Ya-ChEN;
Zhou, Yi-Bin;
Yang, Dong-Rong;
Shan, Yu-Xi

Publication type:

Article

Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 6, p. 4280, doi. 10.3892/mmr.2017.6510

By:

JIANHUA WU;
FANG WANG;
SANG HU;
HAO LI;
PEI HU;
DONGFANG WU;
ZHIQIANG SU;
JUE LIU

Publication type:

Article

Nuclear respiratory factor 1 overexpression attenuates anti-benzopyrene-7,8-diol-9,10-epoxide-induced S-phase arrest of bronchial epithelial cells.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 5, p. 4372, doi. 10.3892/mmr.2016.5065

By:

JING WU;
YANING WANG;
DA WO;
LIJUAN ZHANG;
JUE LI

Publication type:

Article

Temozolomide induces autophagy via ATM-AMPK-ULK1 pathways in glioma.

Published in:

Molecular Medicine Reports, 2014, v. 10, n. 1, p. 411, doi. 10.3892/mmr.2014.2151

By:

YUHUI ZOU;
QIONG WANG;
BINGLING LI;
BING XIE;
WEIMIN WANG

Publication type:

Article

Low dose chloroquine decreases insulin resistance in human metabolic syndrome but does not reduce carotid intima-media thickness.

Published in:

Diabetology & Metabolic Syndrome, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13098-019-0456-4

By:

McGill, Janet B.;
Johnson, Mariko;
Hurst, Stacy;
Cade, William T.;
Yarasheski, Kevin E.;
Ostlund, Richard E.;
Schechtman, Kenneth B.;
Razani, Babak;
Kastan, Michael B.;
McClain, Donald A.;
de las Fuentes, Lisa;
Davila-Roman, Victor G.;
Ory, Daniel S.;
Wickline, Samuel A.;
Semenkovich, Clay F.

Publication type:

Article