scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1030443669 |
P356 | DOI | 10.1038/SJ.EJHG.5201221 |
P698 | PubMed publication ID | 15378071 |
P5875 | ResearchGate publication ID | 8336978 |
P50 | author | Minna Pöyhönen | Q57027737 |
P2093 | author name string | Johan Lundkvist | |
Hannu Kalimo | |||
Matti Viitanen | |||
Seppo Tuisku | |||
Susanna Tuominen | |||
Kati Mykkänen | |||
Vesa Juvonen | |||
Maila Penttinen | |||
Pertti Sistonen | |||
Marja-Liisa Savontaus | |||
P2860 | cites work | The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients | Q24629786 |
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL | Q28143970 | ||
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients | Q28255796 | ||
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia | Q28294011 | ||
Notch signaling | Q29618190 | ||
High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence | Q34020383 | ||
Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | Q34295928 | ||
Finnish Disease Heritage I: characteristics, causes, background | Q34531986 | ||
A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient | Q34658824 | ||
Linkage disequilibrium mapping in isolated populations: the example of Finland revisited | Q34754002 | ||
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan | Q40615837 | ||
Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. | Q42492781 | ||
Genetic homogeneity of lysinuric protein intolerance | Q42536851 | ||
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia | Q42632183 | ||
Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome | Q43539551 | ||
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke | Q44075699 | ||
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland | Q47296707 | ||
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains | Q47852886 | ||
CADASIL in a North American family: clinical, pathologic, and radiologic findings | Q48390442 | ||
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only | Q48444580 | ||
Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy | Q48642657 | ||
DMLE+: Bayesian linkage disequilibrium gene mapping. | Q52038187 | ||
Diagnostic strategies in CADASIL | Q73563077 | ||
Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene | Q73935465 | ||
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation | Q74312798 | ||
The phenotypic spectrum of CADASIL: clinical findings in 102 cases | Q77568574 | ||
P433 | issue | 10 | |
P921 | main subject | Finland | Q33 |
founder effect | Q504568 | ||
P304 | page(s) | 813-819 | |
P577 | publication date | 2004-10-01 | |
P1433 | published in | European Journal of Human Genetics | Q2155433 |
P1476 | title | Detection of the founder effect in Finnish CADASIL families | |
P478 | volume | 12 |
Q48257499 | APOE and AGT in the Finnish p.Arg133Cys CADASIL population |
Q30861866 | CADASIL and CARASIL. |
Q35143551 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family |
Q33775902 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease |
Q35755963 | Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles |
Q90287624 | Clinical Features of 4 Novel NOTCH3 Mutations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy in China |
Q38677884 | Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study. |
Q30487788 | Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain |
Q48173961 | Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. |
Q35008186 | Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease |
Q34279725 | Identification of a known mutation in Notch 3 in familiar CADASIL in China |
Q30435104 | Impairments in Episodic-Autobiographical Memory and Emotional and Social Information Processing in CADASIL during Mid-Adulthood |
Q59698098 | Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL |
Q92826566 | Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL |
Q92583917 | Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation |
Q48726586 | Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese |
Q35868667 | Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient. |
Q37808273 | Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. |
Q45288697 | The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation |
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