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Literature DB >> 26050521

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.

Hélio A G Teive¹, Adriana Moro², Mariana Moscovich², Walter O Arruda², Renato P Munhoz³, Salmo Raskin⁴, Tetsuo Ashizawa⁵.

Abstract

The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasia represents a multisystem entity with pleomorphic neurological and systemic manifestations. ATM syndrome is proposed as a more adequate designation for this entity.

Entities: Chemical Disease Gene Mutation Species

Keywords: Alpha-fetoprotein; Ataxia-telangiectasia; Cerebellar ataxia; Immunodeficiency; Malignancies; Oculocutaneous telangiectasia

Mesh：

Substances：

Year: 2015 PMID： 26050521 PMCID： PMC5161405 DOI： 10.1016/j.jns.2015.05.022

Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181

40 in total

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Journal: Mov Disord Date: 1989 Impact factor: 10.338

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Journal: Lancet Date: 1972-11-25 Impact factor: 79.321

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Journal: Clin Genet Date: 1988-11 Impact factor: 4.438

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Journal: PLoS One Date: 2013-06-27 Impact factor: 3.240

30 in total

1. Ataxia telangiectasia mutated kinase is an autophagic balancer at the onset of heart failure.

Authors: Jun Yoshioka
Journal: Am J Physiol Heart Circ Physiol Date: 2018-05-11 Impact factor: 4.733

2. Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again.

Authors: Josefina Perez Maturo; Marcela Gonzalez Cid; Lucia Zavala; Sergio Rodriguez Quiroga; Marcelo Andres Kauffman
Journal: Mov Disord Clin Pract Date: 2020-07-07

3. Developing a smartphone application, triaxial accelerometer-based, to quantify static and dynamic balance deficits in patients with cerebellar ataxias.

Authors: Giuseppe Arcuria; Christian Marcotulli; Raffaele Amuso; Giuliano Dattilo; Claudio Galasso; Francesco Pierelli; Carlo Casali
Journal: J Neurol Date: 2019-11-11 Impact factor: 4.849

4. Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants.

Authors: Danielle Hutchings; Zhengdong Jiang; Michael Skaro; Matthew J Weiss; Christopher L Wolfgang; Martin A Makary; Jin He; John L Cameron; Lei Zheng; David S Klimstra; Randall E Brand; Aatur D Singhi; Michael Goggins; Alison P Klein; Nicholas J Roberts; Ralph H Hruban
Journal: Mod Pathol Date: 2019-07-08 Impact factor: 7.842