Literature DB >> 29473572

Late-onset ataxia telangiectasia.

Laurence Newrick1, Noor Sharrack1, Marios Hadjivassiliou1.   

Abstract

Entities:  

Year:  2014        PMID: 29473572      PMCID: PMC5764536          DOI: 10.1212/CPJ.0000000000000008

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


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  6 in total

1.  Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Authors:  Mijke M M Verhagen; James I Last; Frans B L Hogervorst; Dominique F C M Smeets; Nel Roeleveld; Frans Verheijen; Coriene E Catsman-Berrevoets; Nico M Wulffraat; Jan M Cobben; Johan Hiel; Ewout R Brunt; Els A J Peeters; Encarna B Gómez Garcia; Marjo S van der Knaap; Carsten R Lincke; Laura A E M Laan; Marina A J Tijssen; Monique A van Rijn; Danielle Majoor-Krakauer; Marjan Visser; Laura J van 't Veer; Wim J Kleijer; Bart P C van de Warrenburg; Adilia Warris; Imelda J M de Groot; Ronald de Groot; Annegien Broeks; Frank Preijers; Berry H P H Kremer; Corry M R Weemaes; Malcolm A M R Taylor; Marcel van Deuren; Michèl A A P Willemsen
Journal:  Hum Mutat       Date:  2012-01-25       Impact factor: 4.878

2.  Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

Authors:  Romain Micol; Lilia Ben Slama; Felipe Suarez; Loïc Le Mignot; Julien Beauté; Nizar Mahlaoui; Catherine Dubois d'Enghien; Anthony Laugé; Janet Hall; Jérôme Couturier; Louis Vallée; Bruno Delobel; François Rivier; Karine Nguyen; Thierry Billette de Villemeur; Jean-Louis Stephan; Pierre Bordigoni; Yves Bertrand; Nathalie Aladjidi; Jean-Michel Pedespan; Caroline Thomas; Isabelle Pellier; Michel Koenig; Olivier Hermine; Capucine Picard; Despina Moshous; Bénédicte Neven; Fanny Lanternier; Stéphane Blanche; Marc Tardieu; Marianne Debré; Alain Fischer; Dominique Stoppa-Lyonnet
Journal:  J Allergy Clin Immunol       Date:  2011-06-12       Impact factor: 10.793

3.  Cancer risks and mortality in heterozygous ATM mutation carriers.

Authors:  Deborah Thompson; Silvia Duedal; Jennifer Kirner; Lesley McGuffog; James Last; Anne Reiman; Philip Byrd; Malcolm Taylor; Douglas F Easton
Journal:  J Natl Cancer Inst       Date:  2005-06-01       Impact factor: 13.506

Review 4.  Ataxia-telangiectasia, an evolving phenotype.

Authors:  Helen H Chun; Richard A Gatti
Journal:  DNA Repair (Amst)       Date:  2004 Aug-Sep

5.  Clinical spectrum of ataxia-telangiectasia in adulthood.

Authors:  M M M Verhagen; W F Abdo; M A A P Willemsen; F B L Hogervorst; D F C M Smeets; J A P Hiel; E R Brunt; M A van Rijn; D Majoor Krakauer; R A Oldenburg; A Broeks; J I Last; L J van't Veer; M A J Tijssen; A M I Dubois; H P H Kremer; C M R Weemaes; A M R Taylor; M van Deuren
Journal:  Neurology       Date:  2009-06-17       Impact factor: 9.910

6.  Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

Authors:  Thilo Dörk; Regina Bendix-Waltes; Rolf-Dieter Wegner; Markus Stumm
Journal:  Am J Med Genet A       Date:  2004-04-30       Impact factor: 2.802

  6 in total
  3 in total

1.  TREC/KREC levels in children with ataxia-telangiectasia.

Authors:  Oksana Boyarchuk; Halyna Makukh; Larysa Kostyuchenko; Nataliya Yarema; Ivanna Haiboniuk; Volodymyr Kravets; Oleksandra Shulhai; Bohdan Tretyak
Journal:  Immunol Res       Date:  2021-08-24       Impact factor: 2.829

2.  Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Authors:  Tannaz Moeini Shad; Reza Yazdani; Parisa Amirifar; Samaneh Delavari; Marzieh Heidarzadeh Arani; Seyed Alireza Mahdaviani; Mahnaz Sadeghi-Shabestari; Asghar Aghamohammadi; Nima Rezaei; Hassan Abolhassani
Journal:  Front Immunol       Date:  2022-01-14       Impact factor: 7.561

3.  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

  3 in total

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