(Q60469253)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20169447%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities (English)

1 reference

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18 January 2020

5

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18 January 2020

Antonio Federico

13

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18 January 2020

author name string

S Bianchi

1

1 reference

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18 January 2020

A Rufa

2

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18 January 2020

M Ragno

3

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18 January 2020

C D'Eramo

4

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18 January 2020

L Pantoni

6

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18 January 2020

A Cappelli

7

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18 January 2020

A Perretti

8

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18 January 2020

E Zicari

9

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18 January 2020

P Zolo

10

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18 January 2020

D Inzitari

11

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18 January 2020

M T Dotti

12

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18 January 2020

publication date

19 February 2010

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18 January 2020

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18 January 2020

volume

257

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18 January 2020

issue

6

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18 January 2020

page(s)

1039-1042

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https://scigraph.springernature.com/pub.10.1007/s00415-010-5481-z

18 January 2020

exact match

0 references

cites work

Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

1 reference

12 December 2020

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL

1 reference

12 December 2020

Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?

1 reference

12 December 2020

Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene

1 reference

12 December 2020

The spectrum of mutations for CADASIL diagnosis

1 reference

12 December 2020

The spectrum of Notch3 mutations in 28 Italian CADASIL families

1 reference

12 December 2020

Neuropsychiatric manifestations in CADASIL.

1 reference

12 December 2020

Gene symbol: NOTCH3. Disease: CADASIL

1 reference

12 December 2020

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients

1 reference

12 December 2020

Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

1 reference

12 December 2020

Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation

1 reference

12 December 2020

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

12 December 2020

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

10.1007/S00415-010-5481-Z

Identifiers

DOI

1 reference

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18 January 2020

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