Pentti J. Tienari

Intergenerational instability of the C9orf72 hexanucleotide repeat

The paper investigates intergenerational instability of C9orf72 hexanucleotide repeats, finding increased instability in alleles with >20 repeats and a paternal expansion bias in 20-40 repeat alleles.

Tracing the origin of Finnish gelsolin amyloidosis using haplotype sharing trees

This study traces the geographic origin of a Finnish founder variant causing gelsolin amyloidosis using haplotype sharing trees and estimates its most recent common ancestor.

HHV-6B, HHV-7, and B19V Are Frequently Found DNA Viruses in the Human Thymus but Show No Definitive Link with Myasthenia Gravis

This study examines DNA viruses in the thymus of MG patients and controls, finding common viral presence but no specific association with MG.

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK

The paper uses haplotype sharing trees and HAPTK to show that intermediate-length C9orf72 repeat alleles share haplotypes with the hexanucleotide repeat expansion, suggesting they are potential premutation alleles.

Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies

This paper performs a large meta-analysis of GWAS in dementia with Lewy bodies, identifying sex-specific genetic risk signals and highlighting the need for larger cohorts.

Investigation of Autosomal Genetic Sex Differences in Parkinsons disease

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia

The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.

Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms

This study conducts a GWAS to identify genetic determinants of Parkinson's disease age of onset, finding associations with SNCA, TMEM175, and GBA, and highlighting alpha-synuclein's role in disease onset.

Heritability and genetic variance of dementia with Lewy bodies

This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.

Genetics of vaccination-related narcolepsy

The paper identifies genetic risk variants associated with vaccination-related narcolepsy using genomic data from cases and controls.

A comprehensive assessment of benign genetic variability for neurodegenerative disorders

The paper assesses benign genetic variability in elderly individuals without neurodegenerative disease to aid in distinguishing pathogenic mutations.