(Q57812015)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

Elisabeth Tournier-Lasserve

4 March 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Bence Gunda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Tibor Kovács

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Csilla Hornyák

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Dániel Bereczki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

György Várallyay

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Gábor Rudas

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Marie-Pierre Audrezet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

publication date

5 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

500-503

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

4 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

Ophthalmological features associated with COL4A1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

COL4A2 mutation associated with familial porencephaly and small-vessel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7224-4

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24390199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-013-7224-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24390199%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference