Liina Kuuluvainen
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View article: TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients Open
View article: Clinical features and spectrum of <i>NOTCH3</i> variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Clinical features and spectrum of <i>NOTCH3</i> variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Open
This study revealed the genetic and clinical spectrum of CADASIL in the Finnish population. Sequencing of the whole NOTCH3 gene performing a gene-panel or exome sequencing is recommended when suspecting CADASIL.
View article: TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients Open
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy and cerebral leukodystrophy (RVCL) are very rare monogenic disorders and the most common forms of early-onset cer…
View article: Genetic analysis reveals novel variants for vascular cognitive impairment
Genetic analysis reveals novel variants for vascular cognitive impairment Open
These data support pathogenic roles of variants in HTRA1, TREX1 and in the 3'UTR of COL4A1 in CSVD and VCI, and suggest that vascular pathogenic mechanisms are linked to neurodegeneration, expanding the understanding of the genetic backgro…
View article: GENETICS OF DEMENTIA DISORDERS AND ALS
GENETICS OF DEMENTIA DISORDERS AND ALS Open
The burden of dementia and neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS) is vast both on an individual and economic level, as most of these conditions do not have effective treatments and are largely debilitating.…
View article: PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice
PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice Open
View article: Whole-exome sequencing of Finnish patients with vascular cognitive impairment
Whole-exome sequencing of Finnish patients with vascular cognitive impairment Open
View article: Oligogenic basis of sporadic ALS
Oligogenic basis of sporadic ALS Open
Our data suggest that the penetrance of SOD1 p.Ala90Val is modulated by other genes and indicates highly individual oligogenic basis of apparently sporadic ALS. Additional genetic variants likely contributing to disease penetrance w…
View article: A founder mutation in <i><scp>CERKL</scp></i> is a major cause of retinal dystrophy in Finland
A founder mutation in <i><span>CERKL</span></i> is a major cause of retinal dystrophy in Finland Open
Purpose To study the genetic aetiology of retinal dystrophies ( RD ) in Finnish patients. Methods A targeted next‐generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. Results The overall …
View article: A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features
A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features Open
Mutations in the progranulin (GRN) gene represent about 5-10% of frontotemporal lobar degeneration (FTLD). We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the a…