Literature DB >> 29443316

Intracerebral pseudotumors in a family with cerebroretinal vasculopathy.

Korak Sarkar1, Christopher Way1, Anne Hiniker1, Rachel Brock1, Arie Perry1, Piero Verro1.   

Abstract

Entities:  

Year:  2012        PMID: 29443316      PMCID: PMC5766118          DOI: 10.1212/CPJ.0b013e31826af165

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


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  7 in total

1.  Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.

Authors:  F J Mateen; K Krecke; B R Younge; A L Ford; A Shaikh; P H Kothari; J P Atkinson
Journal:  Neurology       Date:  2010-09-28       Impact factor: 9.910

2.  Hereditary retinal vasculopathy with cerebral white matter lesions.

Authors:  D H Gutmann; K H Fischbeck; R C Sergott
Journal:  Am J Med Genet       Date:  1989-10

3.  Cerebroretinal vasculopathy. A new hereditary syndrome.

Authors:  M G Grand; J Kaine; K Fulling; J Atkinson; S B Dowton; M Farber; J Craver; K Rice
Journal:  Ophthalmology       Date:  1988-05       Impact factor: 12.079

Review 4.  New roles for the major human 3'-5' exonuclease TREX1 in human disease.

Authors:  David Kavanagh; Dirk Spitzer; Parul H Kothari; Aisha Shaikh; M Kathryn Liszewski; Anna Richards; John P Atkinson
Journal:  Cell Cycle       Date:  2008-06-16       Impact factor: 4.534

5.  C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Authors:  Anna Richards; Arn M J M van den Maagdenberg; Joanna C Jen; David Kavanagh; Paula Bertram; Dirk Spitzer; M Kathryn Liszewski; Maria-Louise Barilla-Labarca; Gisela M Terwindt; Yumi Kasai; Mike McLellan; Mark Gilbert Grand; Kaate R J Vanmolkot; Boukje de Vries; Jijun Wan; Michael J Kane; Hafsa Mamsa; Ruth Schäfer; Anine H Stam; Joost Haan; Paulus T V M de Jong; Caroline W Storimans; Mary J van Schooneveld; Jendo A Oosterhuis; Andreas Gschwendter; Martin Dichgans; Katya E Kotschet; Suzanne Hodgkinson; Todd A Hardy; Martin B Delatycki; Rula A Hajj-Ali; Parul H Kothari; Stanley F Nelson; Rune R Frants; Robert W Baloh; Michel D Ferrari; John P Atkinson
Journal:  Nat Genet       Date:  2007-07-29       Impact factor: 38.330

6.  Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease.

Authors:  Yun-Gui Yang; Tomas Lindahl; Deborah E Barnes
Journal:  Cell       Date:  2007-11-30       Impact factor: 41.582

7.  Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Authors:  Yanick J Crow; Bruce E Hayward; Rekha Parmar; Peter Robins; Andrea Leitch; Manir Ali; Deborah N Black; Hans van Bokhoven; Han G Brunner; Ben C Hamel; Peter C Corry; Frances M Cowan; Suzanne G Frints; Joerg Klepper; John H Livingston; Sally Ann Lynch; Roger F Massey; Jean François Meritet; Jacques L Michaud; Gerard Ponsot; Thomas Voit; Pierre Lebon; David T Bonthron; Andrew P Jackson; Deborah E Barnes; Tomas Lindahl
Journal:  Nat Genet       Date:  2006-07-16       Impact factor: 38.330

  7 in total

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