Tienari, Pentti J.

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Nalls, M. A., Blauwendraat, C., Vallerga, C. L., Heilbron, K., Bandres-Ciga, S., Chang, D., Tan, M., Kia, D. A., Noyce, A. J., Xue, A., et al. (2019) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 2,454

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 1,210

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

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Guerreiro, R., Ross, O. A., Kun-Rodrigues, C., Hernandez, D. G., Orme, T., Eicher, J. D., Shepherd, C. E., Parkkinen, L., Darwent, L., Heckman, M. G., et al. (2018) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 270

Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

Jakkula, E., Leppä, V., Sulonen, A.-M., Varilo, T., Kallio, S., Kemppinen, A., Purcell, S., Koivisto, K., Tienari, P., Sumelahti, M.-L., et al. (2010) · The American Journal of Human Genetics

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 245

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease

Luoma, P. T., Eerola, J., Ahola, S., Hakonen, A. H., Hellström, O., Kivistö, K. T., Tienari, P. J., & Suomalainen, A. (2007) · Neurology

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 154

The chromosome 9 ALS and FTD locus is probably derived from a single founder

Mok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., et al. (2012) · Neurobiology of Aging

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 131

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population

Kero, M., Paetau, A., Polvikoski, T., Tanskanen, M., Sulkava, R., Jansson, L., Myllykangas, L., & Tienari, P. J. (2013) · Neurobiology of Aging

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 72

The phenotype of the C9ORF72 expansion carriers according to revised criteria for bvFTD

Solje, E., Aaltokallio, H., Koivumaa-Honkanen, H., Suhonen, N. M., Moilanen, V., Kiviharju, A., Traynor, B., Tienari, P. J., Hartikainen, P., & Remes, A. M. (2015) · PLOS ONE

Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment Research

Cited by 46

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease

Hatton, C., Ghanem, S. S., Koss, D. J., Abdi, I. Y., Gibbons, E., Guerreiro, R., Bras, J., International DLB Genetics Consortium, Bras, J., Guerreiro, R., et al. (2022) · Brain

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 28