(Q28254930)

Isabel Santana

9

0 references

Catarina R. Oliveira

Catarina Oliveira

13

0 references

Andrew Singleton

15

Andrew Singleton

0 references

Nicole Gurunlian

6

Nicole Gurunlian

0 references

Jesse Raphael Gibbs

12

Jesse Raphael Gibbs

0 references

Ebba Lohmann

2

Ebba Lohmann

0 references

author name string

Rita João Guerreiro

1

0 references

Emma Kinsella

3

0 references

José Miguel Brás

4

0 references

Nga Luu

5

0 references

Burcu Dursun

7

0 references

Hasmet Hanagasi

10

0 references

Hakan Gurvit

11

0 references

Murat Emre

Exome sequencing reveals VCP mutations as a cause of familial ALS

14

0 references

language of work or name

English

0 references

publication date

May 2012

0 references

published in

Neurobiology of Aging

0 references

volume

33

0 references

page(s)

1008.e17-23

0 references

issue

5

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Integrative genomics viewer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Psychiatric disturbances in CADASIL: a brief review

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

The spectrum of mutations for CADASIL diagnosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Coexistence of CADASIL and Alzheimer's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306507

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22153900

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diagnostic strategies in CADASIL

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22153900

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2011.10.009

1 reference

2848220

2848220

1 reference

1 reference

1 reference