(Q45065891)

9 December 2017

Detection of the founder effect in Finnish CADASIL families (English)

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9 December 2017

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Minna Pöyhönen

11

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author name string

Kati Mykkänen

1

1 reference

9 December 2017

Marja-Liisa Savontaus

2

1 reference

9 December 2017

Vesa Juvonen

3

1 reference

9 December 2017

Pertti Sistonen

4

1 reference

9 December 2017

Seppo Tuisku

5

1 reference

9 December 2017

Susanna Tuominen

6

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9 December 2017

Maila Penttinen

7

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9 December 2017

Johan Lundkvist

8

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9 December 2017

Matti Viitanen

9

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9 December 2017

Hannu Kalimo

10

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9 December 2017

1 October 2004

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European Journal of Human Genetics

9 December 2017

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9 December 2017

12

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9 December 2017

10

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9 December 2017

813-819

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201221

9 December 2017

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cites work

Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

CADASIL in a North American family: clinical, pathologic, and radiologic findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

DMLE+: Bayesian linkage disequilibrium gene mapping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Genetic homogeneity of lysinuric protein intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

7 January 2021

Diagnostic strategies in CADASIL

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

7 January 2021

Finnish Disease Heritage I: characteristics, causes, background

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

7 January 2021

Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

7 January 2021

Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201221

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201221

1 reference

Dimensions Publication ID

9 December 2017

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1 reference