(Q54234347)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Homozygosity and severity of phenotypic presentation in a CADASIL family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

3

1 reference

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1 March 2020

Antonio Federico

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Claudia Vinciguerra

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Alessandra Rufa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Antonio Sperduto

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Monica De Santis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Alessandro Malandrini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Maria Teresa Dotti

7

1 reference

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1 March 2020

publication date

26 November 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

published in

Neurological Sciences

1 reference

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1 March 2020

volume

35

1 reference

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1 March 2020

issue

1

1 reference

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1 March 2020

page(s)

91-93

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10072-013-1580-9

1 March 2020

exact match

0 references

1 reference

https://api.crossref.org/works/10.1007%2FS10072-013-1580-9

Hereditary cerebral small vessel diseases: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-013-1580-9

A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-013-1580-9

"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-013-1580-9

Abnormal morphology of peripheral cell tissues from patients with Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-013-1580-9

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

21 January 2018

1 reference

12 December 2020

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report

1 reference

12 December 2020

Novel presenilin 1 mutation associated with early-onset Alzheimer`s disease in a Saudi patient

1 reference

12 December 2020

[Apolipoprotein E and neuro-psychiatric diseases].

1 reference

12 December 2020

Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease

1 reference

12 December 2020

10.1007/S10072-013-1580-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24277202%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference