Literature DB >> 32775531

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

Josefina Perez Maturo1,2, Marcela Gonzalez Cid3, Lucia Zavala1, Sergio Rodriguez Quiroga1,4, Marcelo Andres Kauffman1.   

Abstract

Entities:  

Keywords:  ataxia telangiectasia, autosomal recessive ataxias, mild phenotype, NGS ataxia panel, cerebellar ataxia.

Year:  2020        PMID： 32775531      PMCID： PMC7396874          DOI： 10.1002/mdc3.13013

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  5 in total

Review 1.  Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.

Authors:  Ariel Levy; Anthony E Lang
Journal:  Mov Disord       Date:  2018-02-13       Impact factor: 10.338

Review 2.  Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.

Authors:  Hélio A G Teive; Adriana Moro; Mariana Moscovich; Walter O Arruda; Renato P Munhoz; Salmo Raskin; Tetsuo Ashizawa
Journal:  J Neurol Sci       Date:  2015-05-29       Impact factor: 3.181

Review 3.  Ataxia-telangiectasia: A review of clinical features and molecular pathology.

Authors:  Parisa Amirifar; Mohammad Reza Ranjouri; Reza Yazdani; Hassan Abolhassani; Asghar Aghamohammadi
Journal:  Pediatr Allergy Immunol       Date:  2019-03-20       Impact factor: 6.377

Review 4.  Ataxia telangiectasia: a review.

Authors:  Cynthia Rothblum-Oviatt; Jennifer Wright; Maureen A Lefton-Greif; Sharon A McGrath-Morrow; Thomas O Crawford; Howard M Lederman
Journal:  Orphanet J Rare Dis       Date:  2016-11-25       Impact factor: 4.123

5.  Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.

Authors:  Maria V Kuznetsova; Dmitry Yu Trofimov; Ekaterina S Shubina; Taisiya O Kochetkova; Natalia A Karetnikova; Ilya Yu Barkov; Vladimir A Bakharev; Oleg A Gusev; Gennady T Sukhikh
Journal:  Front Neurol       Date:  2017-10-30       Impact factor: 4.003
  5 in total
  2 in total

1.  Alternative end-joining originates stable chromosome aberrations induced by etoposide during targeted inhibition of DNA-PKcs in ATM-deficient tumor cells.

Authors:  Marcelo de Campos Nebel; Micaela Palmitelli; Josefina Pérez Maturo; Marcela González-Cid
Journal:  Chromosome Res       Date:  2022-05-23       Impact factor: 5.239

2.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752
  2 in total

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