(Q38957343)

8 September 2017

title

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy (English)

1 reference

8 September 2017

7

1 reference

8 September 2017

12

Markus Tolnay

0 references

Federica Cossu

Federica Cossu

6

0 references

Francesca Novara

Francesca Novara

2

0 references

Jacopo C. DiFrancesco

Jacopo C DiFrancesco

1

0 references

Orsetta Zuffardi

Orsetta Zuffardi

3

0 references

Carlo Ferrarese

16

Carlo Ferrarese

1 reference

8 September 2017

Antonella Forlino

4

1 reference

8 September 2017

Roberta Gioia

5

1 reference

8 September 2017

Simona Andreoni

8

1 reference

8 September 2017

Enrico Saracchi

9

1 reference

8 September 2017

Barbara Frigeni

10

1 reference

8 September 2017

Tiziana Stellato

11

1 reference

8 September 2017

Markus Tolnay

12

1 reference

8 September 2017

David T Winkler

13

1 reference

8 September 2017

Paolo Remida

14

1 reference

8 September 2017

Giuseppe Isimbaldi

15

1 reference

8 September 2017

publication date

12 September 2014

1 reference

8 September 2017

published in

Neurological Sciences

1 reference

8 September 2017

volume

36

1 reference

8 September 2017

issue

2

1 reference

8 September 2017

page(s)

323-330

1 reference

Hereditary cerebral small vessel diseases: a review

8 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Monogenic vessel diseases related to ischemic stroke: a clinical approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

The genetics of small-vessel disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Granzyme A induces caspase-independent mitochondrial damage, a required first step for apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Heterozygous TREX1 mutations in early-onset cerebrovascular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

The TREX1 C-terminal region controls cellular localization through ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-014-1944-9

A new autosomal dominant vascular retinopathy syndrome.

21 January 2018

1 reference

12 December 2020

Evidence for systemic manifestations in cerebroretinal vasculopathy

1 reference

12 December 2020

Cerebroretinal vasculopathy. A new hereditary syndrome

1 reference

12 December 2020

Hereditary retinal vasculopathy with cerebral white matter lesions

1 reference

12 December 2020

10.1007/S10072-014-1944-9

Identifiers

DOI

1 reference

release_doy7pmjasff3rbtmzzgh3tqqoy

8 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/doy7pmjasff3rbtmzzgh3tqqoy

24 November 2022

mapped directly with Wikidata item

1 reference