Literature DB >> 27604306

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

Anine H Stam1, Parul H Kothari2, Aisha Shaikh2, Andreas Gschwendter3, Joanna C Jen4, Suzanne Hodgkinson5, Todd A Hardy6,7, Michael Hayes6, Peter A Kempster8, Katya E Kotschet8, Ingeborg M Bajema9, Sjoerd G van Duinen9, Marion L C Maat-Schieman1, Paulus T V M de Jong10,11,12, Marc D de Smet10, Didi de Wolff-Rouendaal12, Greet Dijkman12, Nadine Pelzer1, Grant R Kolar2,13, Robert E Schmidt13, JoAnne Lacey14, Daniel Joseph15, David R Fintak15, M Gilbert Grand15, Elizabeth M Brunt13, Helen Liapis13, Rula A Hajj-Ali16, Mark C Kruit17, Mark A van Buchem17, Martin Dichgans3,18, Rune R Frants19, Arn M J M van den Maagdenberg1,19, Joost Haan1,20, Robert W Baloh4, John P Atkinson2, Gisela M Terwindt1, Michel D Ferrari1.   

Abstract

Entities:  

Keywords:  migraine; molecular genetics; neuro-ophthalmology; neuropathology; small vessel disease

Mesh:

Year:  2016        PMID: 27604306      PMCID: PMC5091044          DOI: 10.1093/brain/aww217

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  42 in total

1.  Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

Authors:  B Namjou; P H Kothari; J A Kelly; S B Glenn; J O Ojwang; A Adler; M E Alarcón-Riquelme; C J Gallant; S A Boackle; L A Criswell; R P Kimberly; E Brown; J Edberg; A M Stevens; C O Jacob; B P Tsao; G S Gilkeson; D L Kamen; J T Merrill; M Petri; R R Goldman; L M Vila; J-M Anaya; T B Niewold; J Martin; B A Pons-Estel; J M Sabio; J L Callejas; T J Vyse; S-C Bae; F W Perrino; B I Freedman; R H Scofield; K L Moser; P M Gaffney; J A James; C D Langefeld; K M Kaufman; J B Harley; J P Atkinson
Journal:  Genes Immun       Date:  2011-01-27       Impact factor: 2.676

2.  Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy.

Authors:  Radhika Dhamija; David Schiff; M Beatriz S Lopes; Joanna C Jen; Doris D Lin; Bradford B Worrall
Journal:  Neurology       Date:  2015-11-03       Impact factor: 9.910

3.  A 44-year-old man with eye, kidney, and brain dysfunction.

Authors:  Ivana Vodopivec; Derek H Oakley; Cory A Perugino; Nagagopal Venna; E Tessa Hedley-Whyte; John H Stone
Journal:  Ann Neurol       Date:  2016-03-07       Impact factor: 10.422

4.  Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.

Authors:  R A Ophoff; J DeYoung; S K Service; M Joosse; N A Caffo; L A Sandkuijl; G M Terwindt; J Haan; A M van den Maagdenberg; J Jen; R W Baloh; M L Barilla-LaBarca; N L Saccone; J P Atkinson; M D Ferrari; N B Freimer; R R Frants
Journal:  Am J Hum Genet       Date:  2001-06-28       Impact factor: 11.025

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 prevents cell-intrinsic initiation of autoimmunity.

Authors:  Daniel B Stetson; Joan S Ko; Thierry Heidmann; Ruslan Medzhitov
Journal:  Cell       Date:  2008-08-22       Impact factor: 41.582

Review 7.  Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.

Authors:  M A Lee-Kirsch; C Wolf; C Günther
Journal:  Clin Exp Immunol       Date:  2014-01       Impact factor: 4.330

8.  COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Authors:  Emmanuelle Plaisier; Olivier Gribouval; Sonia Alamowitch; Béatrice Mougenot; Catherine Prost; Marie Christine Verpont; Béatrice Marro; Thomas Desmettre; Salomon Yves Cohen; Etienne Roullet; Michel Dracon; Michel Fardeau; Tom Van Agtmael; Dontscho Kerjaschki; Corinne Antignac; Pierre Ronco
Journal:  N Engl J Med       Date:  2007-12-27       Impact factor: 91.245

9.  Headache in systemic lupus erythematosus: results from a prospective, international inception cohort study.

Authors:  John G Hanly; Murray B Urowitz; Aidan G O'Keeffe; Caroline Gordon; Sang-Cheol Bae; Jorge Sanchez-Guerrero; Juanita Romero-Diaz; Ann E Clarke; Sasha Bernatsky; Daniel J Wallace; Ellen M Ginzler; David A Isenberg; Anisur Rahman; Joan T Merrill; Michelle Petri; Paul R Fortin; Dafna D Gladman; Barri J Fessler; Graciela S Alarcón; Ian N Bruce; Mary Anne Dooley; Kristjan Steinsson; Munther A Khamashta; Rosalind Ramsey-Goldman; Susan Manzi; Gunnar K Sturfelt; Ola Nived; Asad A Zoma; Ronald F van Vollenhoven; Manuel Ramos-Casals; Cynthia Aranow; Meggan Mackay; Guillermo Ruiz-Irastorza; Kenneth C Kalunian; S Sam Lim; Murat Inanc; Diane L Kamen; Christine A Peschken; Soren Jacobsen; Chris Theriault; Kara Thompson; Vernon Farewell
Journal:  Arthritis Rheum       Date:  2013-11

10.  A new autosomal dominant vascular retinopathy syndrome.

Authors:  C W Storimans; M J Van Schooneveld; J A Oosterhuis; P J Bos
Journal:  Eur J Ophthalmol       Date:  1991 Apr-Jun       Impact factor: 1.922

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  22 in total

Review 1.  Cerebrovascular disorders associated with genetic lesions.

Authors:  Philipp Karschnia; Sayoko Nishimura; Angeliki Louvi
Journal:  Cell Mol Life Sci       Date:  2018-10-16       Impact factor: 9.261

Review 2.  Review: Cell Death, Nucleic Acids, and Immunity: Inflammation Beyond the Grave.

Authors:  Keith B Elkon
Journal:  Arthritis Rheumatol       Date:  2018-04-18       Impact factor: 10.995

Review 3.  Heritable and non-heritable uncommon causes of stroke.

Authors:  A Bersano; M Kraemer; A Burlina; M Mancuso; J Finsterer; S Sacco; C Salvarani; L Caputi; H Chabriat; S Lesnik Oberstein; A Federico; E Tournier Lasserve; D Hunt; M Dichgans; M Arnold; S Debette; H S Markus
Journal:  J Neurol       Date:  2020-04-21       Impact factor: 4.849

4.  14th EUNOS Congress: PORTO, PORTUGAL, 16-19 JUNE 2019.

Authors: 
Journal:  Neuroophthalmology       Date:  2019-06-07

5.  Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy.

Authors:  Yutaka Tsubata; Takashi Morita; Tetsuo Morioka; Taiji Sasagawa; Kouzo Ikarashi; Noriko Saito; Hisaki Shimada; Shigeru Miyazaki; Shinji Sakai; Hajime Tanaka; Rie Saito; Yasuko Toyoshima; Hiroaki Nozaki; Ichiei Narita
Journal:  CEN Case Rep       Date:  2018-01-10

6.  DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.

Authors:  Tomomi Sakai; Takuya Miyazaki; Dong-Mi Shin; Yong-Soo Kim; Chen-Feng Qi; Robert Fariss; Jeeva Munasinghe; Hongsheng Wang; Alexander L Kovalchuk; Parul H Kothari; Charles S Fermaintt; John P Atkinson; Fred W Perrino; Nan Yan; Herbert C Morse
Journal:  J Autoimmun       Date:  2017-03-18       Impact factor: 7.094

Review 7.  A meta-analysis of prognostic biomarkers in neonatal retinal hemorrhage.

Authors:  Yan Xu; Ying Wang; Shouqing Li
Journal:  Int Ophthalmol       Date:  2021-10-08       Impact factor: 2.031

8.  Serial magnetic resonance imaging changes of pseudotumor lesions in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a case report.

Authors:  Yuying Yan; Shuai Jiang; Ruilin Wang; Xiang Wang; Peng Li; Bo Wu
Journal:  BMC Neurol       Date:  2021-06-09       Impact factor: 2.474

9.  Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.

Authors:  E S Hoogeveen; N Pelzer; I de Boer; M A van Buchem; G M Terwindt; M C Kruit
Journal:  AJNR Am J Neuroradiol       Date:  2021-06-24       Impact factor: 4.966

Review 10.  Genetics of Cerebral Small Vessel Disease.

Authors:  Sandro Marini; Christopher D Anderson; Jonathan Rosand
Journal:  Stroke       Date:  2019-11-22       Impact factor: 7.914

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