Literature DB >> 26527794

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

Radhika Dhamija1, David Schiff2, M Beatriz S Lopes2, Joanna C Jen2, Doris D Lin2, Bradford B Worrall2.   

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Year:  2015        PMID： 26527794     DOI： 10.1212/WNL.0000000000002092

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  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

2.  Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

Authors:  Anine H Stam; Parul H Kothari; Aisha Shaikh; Andreas Gschwendter; Joanna C Jen; Suzanne Hodgkinson; Todd A Hardy; Michael Hayes; Peter A Kempster; Katya E Kotschet; Ingeborg M Bajema; Sjoerd G van Duinen; Marion L C Maat-Schieman; Paulus T V M de Jong; Marc D de Smet; Didi de Wolff-Rouendaal; Greet Dijkman; Nadine Pelzer; Grant R Kolar; Robert E Schmidt; JoAnne Lacey; Daniel Joseph; David R Fintak; M Gilbert Grand; Elizabeth M Brunt; Helen Liapis; Rula A Hajj-Ali; Mark C Kruit; Mark A van Buchem; Martin Dichgans; Rune R Frants; Arn M J M van den Maagdenberg; Joost Haan; Robert W Baloh; John P Atkinson; Gisela M Terwindt; Michel D Ferrari
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

3.  High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).

Authors:  Nina Xie; Qiying Sun; Jinxia Yang; Yangjie Zhou; Hongwei Xu; Lin Zhou; Yafang Zhou
Journal:  Orphanet J Rare Dis       Date:  2021-01-30       Impact factor: 4.123

4.  Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Authors:  Saba Jafarpour; Abhik Banerjee; Natalie K Boyd; Benjamin N Vogel; Kelli C Paulsen; Nusrat Ahsan; Wendy G Mitchell; Shafali S Jeste; Jonathan D Santoro
Journal:  J Neurol       Date:  2022-08-12       Impact factor: 6.682

5.  Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report.

Authors:  José Omar Santellán-Hernández; Gerardo Romero-Luna; Jacqueline Ramírez-Cruz; Keren Magaly Aguilar-Hidalgo; Sonia Iliana Mejía-Pérez
Journal:  Cureus       Date:  2022-07-14

6.  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
  6 in total

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