Works matching Ataxia telangiectasia

Results: 2988

Daño oxidativo y respuesta antioxidante en pacientes con ataxia-telangiectasia (estudio de casos y controles).

Published in:

Revista Cubana de Neurología y Neurocirugía, 2014, v. 4, n. 1, p. 1

By:

Riverón Forment, Gretel;
Lemus Molina, Gisselle;
Lantigua Cruz, Araceli Paulina;
Marcos Plascencia, Ligia;
Bataille García, Amadosoro;
Martínez Bonne, Olivia

Publication type:

Article

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations.

Published in:

Iranian Journal of Allergy, Asthma & Immunology, 2025, v. 24, n. 2, p. 187, doi. 10.18502/ijaai.v24i2.18147

By:

Badalzadeh, Mohsen;
Bavani, Maryam Soleimani;
Alizadeh, Zahra;
Mirmoghtadaei, Milad;
Shakerian, Leila;
Bahram, Seiamak;
Molitor, Anne;
Carapito, Raphael;
Moradi, Leila;
Razaghian, Anahita;
Assari, Raheleh;
Movahedi, Masoud;
Shariat, Mansoureh;
Houshmand, Massoud;
Habibi, Laleh;
Hamidieh, Amir Ali;
Fazlollahi, Mahmoud;
Pourpak, Zahra

Publication type:

Article

Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia‐Like Disorders.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 1, p. 118, doi. 10.1002/mdc3.13110

By:

Raslan, Ivana Rocha;
Pereira Matos, Paula Camila Alves;
Boaratti Ciarlariello, Vinícius;
Daghastanli, Karyme Hussein;
Rosa, Augusto Bragança Reis;
Arita, Juliana Harumi;
Aranda, Carolina Sanchez;
Barsottini, Orlando Graziani Povoas;
Pedroso, José Luiz

Publication type:

Article

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives.

Published in:

Journal of Multidisciplinary Healthcare, 2021, v. 14, p. 1637, doi. 10.2147/JMDH.S295486

By:

McGrath-Morrow, Sharon A;
Rothblum-Oviatt, Cynthia C;
Wright, Jennifer;
Schlechter, Haley;
Lefton-Greif, Maureen A;
Natale, Valerie A;
Crawford, Thomas O;
Lederman, Howard M

Publication type:

Article

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.

Published in:

Clinical & Experimental Immunology, 2008, v. 153, n. 2, p. 214, doi. 10.1111/j.1365-2249.2008.03684.x

By:

Staples, E. R.;
McDermott, E. M.;
Reiman, A.;
Byrd, P. J.;
Ritchie, S.;
Taylor, A. M. R.;
Davies, E. G.

Publication type:

Article

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

Published in:

Clinical Genetics, 2016, v. 90, n. 2, p. 105, doi. 10.1111/cge.12710

By:

van Os, N.J.H.;
Roeleveld, N.;
Weemaes, C.M.R.;
Jongmans, M.C.J.;
Janssens, G.O.;
Taylor, A.M.R.;
Hoogerbrugge, N.;
Willemsen, M.A.A.P.

Publication type:

Article

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01857-3

By:

Salami, Fereshte;
Shad, Tannaz Moeini;
Fathi, Nazanin;
Mojtahedi, Hanieh;
Esmaeili, Marzie;
Shahkarami, Sepideh;
Afrakoti, Ladan Gol Mohammad Pour;
Amirifar, Parisa;
Delavari, Samaneh;
Nosrati, Hassan;
Razavi, Azadehsadat;
Ranjouri, Mohammad Reza;
Yousefpour, Mahsa;
Esfahani, Zahra Hamidi;
Azizi, Gholamreza;
Ashrafi, Mahmoudreza;
Rezaei, Nima;
Yazdani, Reza;
Abolhassani, Hassan

Publication type:

Article

Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients.

Published in:

Clinical & Experimental Immunology, 2014, v. 176, n. 2, p. 275, doi. 10.1111/cei.12262

By:

Chopra, C.;
Davies, G.;
Taylor, M.;
Anderson, M.;
Bainbridge, S.;
Tighe, P.;
McDermott, E. M.

Publication type:

Article

Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated.

Published in:

Journal of Family Medicine & Primary Care, 2020, v. 9, n. 2, p. 1199, doi. 10.4103/jfmpc.jfmpc_1095_19

By:

Mathew, Mebin

Publication type:

Article

Ataksi Telenjiektazi Sadece Bir Hareket Hastalığı Değildir; İleri Yaş Bir Ataksi Telenjiektazi Olgusunda Nöromusküler Anormallikler.

Published in:

Medical Journal of Bakirkoy, 2018, v. 14, n. 3, p. 310, doi. 10.5350/BTDMJB.20170811103537

By:

Eker, Amber;
Alshanableh, Muhammed;
Yiğitoğlu, Pembe Hare

Publication type:

Article

Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

Published in:

2022

By:

Blanchard-Rohner, Geraldine;
Peirolo, Anna;
Coulon, Ludivine;
Korff, Christian;
Horvath, Judit;
Burkhard, Pierre R.;
Gumy-Pause, Fabienne;
Ranza, Emmanuelle;
Jandus, Peter;
Dibra, Harpreet;
Taylor, Alexander Malcolm R.;
Fluss, Joel

Publication type:

Case Study

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

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

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

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

Evaluation of Clinical and Laboratory Features of Patients with Ataxia-Telangiectasia.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2023, v. 21, n. 1, p. 3, doi. 10.21911/aai.006

By:

KILIC, Mehmet;
GUNBEY, Omer;
TASKIN, Erdal;
DAG, Bunyamin;
KUCUK, Elif;
GUNBEY, Fatma Betul;
SEN, Askin

Publication type:

Article

Ataksi-telenjiektazili hastaların demografik ve sistemik tutulum özellikleri.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2014, v. 12, n. 2, p. 83

By:

ÇATAL, Ferhat;
TOPAL, Erdem;
ÇELİKSOY, Mehmet Halil;
EFSMİŞTEKİN, Halime;
KUTLUTÜRK, Kazım;
YILDIRIM, Nurdan;
SİNANOĞLU, Muhammed Selçuk;
GENÇ TIRMAN, Esra;
YILDIRAN, Alişan

Publication type:

Article

Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: Report of an autopsy case and literature review.

Published in:

Pathology International, 2001, v. 51, n. 4, p. 271, doi. 10.1046/j.1440-1827.2001.01199.x

By:

Kamiya, Makoto;
Yamanouchi, Hideo;
Yoshida, Takatomo;
Arai, Hanako;
Yokoo, Hideaki;
Sasaki, Atsushi;
Hirato, Junko;
Nakazato, Yoichi;
Sakazume, Yuka;
Okamoto, Kouichi

Publication type:

Article

Anti-oxidative capacity in patients with ataxia telangiectasia.

Published in:

Clinical & Experimental Immunology, 1999, v. 117, n. 3, p. 535, doi. 10.1046/j.1365-2249.1999.01000.x

By:

Reichenbach;
Schubert;
Schwan;
Müller;
Böhles;
Zielen;
Zielen

Publication type:

Article

Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology).

Published in:

Ecancermedicalscience, 2017, v. 11, n. 752-769, p. 1, doi. 10.3332/ecancer.2017.ed66

By:

Cairns, Linda

Publication type:

Article

Oxidative Stress Is Responsible for Deficient Survival and Dendritogenesis in Purkinje Neurons from Ataxia-Telangiectasia Mutated Mutant Mice.

Published in:

Journal of Neuroscience, 2003, v. 23, n. 36, p. 11453, doi. 10.1523/JNEUROSCI.23-36-11453.2003

By:

Chen, Philip;
Cheng Peng;
Luff, John;
Spring, Kevin;
Watters, Dianne;
Bottle, Steven;
Furuya, Shigeki;
Lavin, Martin F.

Publication type:

Article

Telomerase activity, apoptosis and cell cycle progression in ataxia telangiectasia lymphocytes expressing TCL1.

Published in:

2003

By:

Gabellini, C.;
Antonelli, A.;
Petrinelli, P.;
Biroccio, A.;
Marcucci, L.;
Nigro, G.;
Russo, G.;
Zupi, G.;
Elli, R.

Publication type:

journal article

Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 4, p. 1, doi. 10.1210/jendso/bvac026

By:

Miasaki, Fabíola Y;
Saito, Kelly C;
Yamamoto, Guilherme L;
Boguszewski, César L;
Carvalho, Gisah A de;
Kimura, Edna T;
Kopp, Peter A

Publication type:

Article

Treatment of Granulomas in Patients With Ataxia Telangiectasia.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02000

By:

Woelke, Sandra;
Valesky, Eva;
Bakhtiar, Shahrzad;
Pommerening, Helena;
Pfeffermann, L. M.;
Schubert, Ralf;
Zielen, Stefan

Publication type:

Article

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.

Published in:

2020

By:

Schoenaker, M. H. D.;
Blom, M.;
de Vries, M. C.;
Weemaes, C. M. R.;
van der Burg, M.;
Willemsen, M. A. A. P.

Publication type:

journal article

Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.

Published in:

Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00596

By:

Federighi, Pamela;
Ramat, Stefano;
Rosini, Francesca;
Pretegiani, Elena;
Federico, Antonio;
Rufa, Alessandra

Publication type:

Article

Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated.

Published in:

Genes, 2021, v. 12, n. 8, p. 1232, doi. 10.3390/genes12081232

By:

Yamauchi, Motohiro

Publication type:

Article

Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone.

Published in:

Cell Biochemistry & Biophysics, 2017, v. 75, n. 1, p. 95, doi. 10.1007/s12013-016-0775-0

By:

Menotta, Michele;
Biagiotti, Sara;
Bartolini, Giulia;
Marzia, Bianchi;
Orazi, Sara;
Germani, Aldo;
Chessa, Luciana;
Magnani, Mauro

Publication type:

Article

In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.

Published in:

Molecular & Cellular Biochemistry, 2018, v. 438, n. 1/2, p. 153, doi. 10.1007/s11010-017-3122-x

By:

Menotta, Michele;
Biagiotti, Sara;
Orazi, Sara;
Rossi, Luigia;
Chessa, Luciana;
Leuzzi, Vincenzo;
D’Agnano, Daniela;
Plebani, Alessandro;
Soresina, Annarosa;
Magnani, Mauro

Publication type:

Article

Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.

Published in:

Immunological Investigations, 2021, v. 50, n. 2/3, p. 201, doi. 10.1080/08820139.2020.1723104

By:

Amirifar, Parisa;
Mozdarani, Hossein;
Yazdani, Reza;
Kiaei, Fatemeh;
Moeini Shad, Tannaz;
Shahkarami, Sepideh;
Abolhassani, Hassan;
Delavari, Samaneh;
Sohani, Mahsa;
Rezaei, Arezou;
Hassanpour, Gholamreza;
Akrami, Seyed Mohammad;
Aghamohammadi, Asghar

Publication type:

Article

Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.

Published in:

Immunological Investigations, 2020, v. 49, n. 6, p. 597, doi. 10.1080/08820139.2019.1692864

By:

Amirifar, Parisa;
Yazdani, Reza;
Moeini Shad, Tannaz;
Ghanadan, Alireza;
Abolhassani, Hassan;
Lavin, Martin;
Sotoudeh, Soheila;
Aghamohammadi, Asghar

Publication type:

Article

Differential Expression of Small Heat Shock Protein 27 (Hsp27) in Ataxia telangiectasia Brains.

Published in:

Neurochemical Research, 2009, v. 34, n. 9, p. 1658, doi. 10.1007/s11064-009-9959-y

By:

Wenqiang Chen;
Kuizon, Salomon;
Chiou, Bair L.;
Bolton, David C.;
Pullarkat, Raju K.;
Junaid, Mohammed A.

Publication type:

Article

A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01509-5

By:

De Nardi, Laura;
Natale, Marco Francesco;
Messia, Virginia;
Tomà, Paolo;
De Benedetti, Fabrizio;
Insalaco, Antonella

Publication type:

Article

Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma.

Published in:

Environmental & Molecular Mutagenesis, 2015, v. 56, n. 1, p. 70, doi. 10.1002/em.21898

By:

Song, Chang Myeon;
Kwon, Tack‐Kyun;
Park, Byung Lae;
Ji, Yong Bae;
Tae, Kyung

Publication type:

Article

Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report.

Published in:

Journal of Pediatrics Review, 2023, v. 11, n. 3, p. 267, doi. 10.32598/jpr.11.3.961.1

By:

Khosravi, Mohammad Reza;
Abbasi, Ghazal;
Shahbaznejad, Leila;
Ghaffari, Javad;
Dabghzade, Abbas

Publication type:

Article

SARA Scale and Magnetic Resonance Spectroscopy findings in Ataxia Telangiectasia among Children.

Published in:

Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2021, v. 12, n. 7, p. 532

By:

Ibrahem, Kariman Ahmed Mohamed;
Alkholy, Usama Mahmoud;
Almalky, Mohamed Abd Elkader;
Basha, Mohammad Abd Alkhalik

Publication type:

Article

Cross‐talk between DNA damage response and the central carbon metabolic network underlies selective vulnerability of Purkinje neurons in ataxia‐telangiectasia.

Published in:

Journal of Neurochemistry, 2023, v. 166, n. 4, p. 654, doi. 10.1111/jnc.15881

By:

Sun, Jacquelyne Ka‐Li;
Wong, Genper Chi‐Ngai;
Chow, Kim Hei‐Man

Publication type:

Article

Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin.

Published in:

Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0125-7

By:

Cantarutti, Nicoletta;
Claps, Alessia;
Angelino, Giulia;
Chessa, Luciana;
Callea, Francesco;
El Hachem, May;
Diociaiuti, Andrea;
Finocchi, Andrea

Publication type:

Article

A Developmental Role for Ataxia-Telangiectasia Mutated in Protecting the Embryo from Spontaneous and Phenytoin-Enhanced Embryopathies in Culture.

Published in:

Toxicological Sciences, 2006, v. 93, n. 1, p. 156, doi. 10.1093/toxsci/kfl045

By:

Bhuller, Yadvinder;
Wells, Peter G.

Publication type:

Article

Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia.

Published in:

Children, 2025, v. 12, n. 6, p. 672, doi. 10.3390/children12060672

By:

Milanovic, Borko;
Vijatov-Djuric, Gordana;
Djuretic, Andrea;
Kesic, Jelena;
Stojanovic, Vesna;
Jaric, Milica;
Ležakov, Ognjen

Publication type:

Article

Ataxia telangiectasia case report from tertiary-care hospital of North Karnataka.

Published in:

Medica Innovatica, 2013, v. 2, n. 2, p. 112

By:

Kashinakunti, M. D.;
Dhananjaya, M.

Publication type:

Article

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.

Published in:

Cell Death & Differentiation, 2011, v. 18, n. 9, p. 1500, doi. 10.1038/cdd.2011.18

By:

Devgan, S. S.;
Sanal, O.;
Doil, C.;
Nakamura, K.;
Nahas, S. A.;
Pettijohn, K.;
Bartek, J.;
Lukas, C.;
Lukas, J.;
Gatti, R. A.

Publication type:

Article

Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Published in:

Oman Medical Journal, 2020, v. 35, n. 1, p. 86, doi. 10.5001/omj.2020.11

By:

Zaki-Dizaji, Majid;
Tajdini, Mohammad;
Kiaee, Fatemeh;
Shojaaldini, Hossein;
Badv, Reza Shervin;
Abolhassani, Hassan;
Aghamohammadi, Asghar

Publication type:

Article

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 4, p. 783, doi. 10.1007/s10875-022-01234-4

By:

Cirillo, Emilia;
Polizzi, Agata;
Soresina, Annarosa;
Prencipe, Rosaria;
Giardino, Giuliana;
Cancrini, Caterina;
Finocchi, Andrea;
Rivalta, Beatrice;
Dellepiane, Rosa M.;
Baselli, Lucia A.;
Montin, Davide;
Trizzino, Antonino;
Consolini, Rita;
Azzari, Chiara;
Ricci, Silvia;
Lodi, Lorenzo;
Quinti, Isabella;
Milito, Cinzia;
Leonardi, Lucia;
Duse, Marzia

Publication type:

Article

Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 1, p. 72, doi. 10.1007/s10875-021-01147-8

By:

Amirifar, Parisa;
Mehrmohamadi, Mahya;
Ranjouri, Mohammad Reza;
Akrami, Seyed Mohammad;
Rezaei, Nima;
Saberi, Ali;
Yazdani, Reza;
Abolhassani, Hassan;
Aghamohammadi, Asghar

Publication type:

Article

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia.

Published in:

Journal of Clinical Immunology, 2013, v. 33, n. 3, p. 540, doi. 10.1007/s10875-012-9846-1

By:

Mallott, Jacob;
Kwan, Antonia;
Church, Joseph;
Gonzalez-Espinosa, Diana;
Lorey, Fred;
Tang, Ling;
Sunderam, Uma;
Rana, Sadhna;
Srinivasan, Rajgopal;
Brenner, Steven;
Puck, Jennifer

Publication type:

Article

A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 283, doi. 10.4103/jpn.JPN_152_19

By:

Mahale, Rohan R.;
Reddy, Nishanth;
Mathuranth, Pavagada;
Mailankody, Pooja;
Padmanabha, Hansashree;
Retnaswami, Chandra Sadnavalli

Publication type:

Article

Ataxia-Telangiectasia-Mutated-Dependent Activation of Ku in Human Fibroblasts Exposed to Hydrogen Peroxide.

Published in:

Annals of the New York Academy of Sciences, 2006, v. 1091, n. 1, p. 76, doi. 10.1196/annals.1378.056

By:

LEE, JONG HWA;
KIM, KYUNG HWAN;
MORIO, TOMOHIRO;
KIM, HYEYOUNG

Publication type:

Article

Bilateral Deep Brain Stimulation of the Globus Pallidus Pars Interna in a Patient with Variant Ataxia-Telangiectasia.

Published in:

Movement Disorders Clinical Practice, 2016, v. 3, n. 4, p. 405, doi. 10.1002/mdc3.12287

By:

Georgiev, Dejan;
Mehta, Dwij;
Zacharia, André;
Vinke, Ruben Saman;
Milabo, Catherine;
Candelario, Joseph;
Tripoliti, Elina;
Hyam, Jonathan A.;
Zrinzo, Ludvic;
Hariz, Marwan;
O'Riordan, Seán;
Foltynie, Thomas;
Limousin, Patricia

Publication type:

Article