Displaying results 1 - 10 / 12047
results / page
What publication information is included in the service?
Publication name
Authors
Publication channel
Year

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Peer-reviewed
Open access
DOI
10.1186/s40478-020-0879-z
Orme, Tatiana; Hernandez, Dena; Ross, Owen A.; Kun-Rodrigues, Celia; Darwent, Lee; Shepherd, Claire ...
Acta neuropathologica communications2020

Pathogenic REST variant causing Jones syndrome and a review of the literature

Peer-reviewed
Rahikkala E; Julku J; Koskinen S; Keski-Filppula T; Weissgraeber S; Bertoli-Avella AM; Häkli S; Kraa...
European Journal of Human Genetics2023

Pathogenic REST variant causing Jones syndrome and a review of the literature

Peer-reviewed
Open access
DOI
10.1038/s41431-022-01258-9
Rahikkala, Elisa; Julku, Johanna; Koskinen, Sari; Keski-Filppula, Tommi; Weissgraeber, Stephanie; Be...
European journal of human genetics2022

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

Peer-reviewed
Open access
DOI
10.1212/NXG.0000000000000548
Ilinca, Andreea; Englund, Elisabet; Samuelsson, Sofie; Truve, Katarina; Kafantari, Efthymia; Martine...
Neurology : Genetics2021

Hantavirus infection: an emerging infectious disease causing acute renal failure

Peer-reviewed
DOI
10.1038/ki.2012.360
Krautkraemer, Ellen; Zeier, Martin; Plyusnin, Alexander
Kidney international2013

Haptoglobin Hp1 variant does not associate with small vessel disease

Peer-reviewed
Open access
DOI
10.3390/brainsci10010018
Lempiäinen, Juha; Ijäs, Petra; Niiranen, Teemu J.; Kaste, Markku; Karhunen, Pekka J.; Lindsberg, Per...
Brain sciences2020

Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability

Peer-reviewed
Open access
DOI
10.2174/0109298673365248250312064016
Shamsi, Monis Bilal; Ali, Muhammad Zeeshan; Ahmad, Safeer; Muurinen, Mari; Khan, Muzammil Ahmad; Alh...
Current medicinal chemistry2025

Emerging and re- emerging enteric viruses causing multinational foodborne disease outbreaks

Peer-reviewed
DOI
10.2217/fvl.13.128
Maunula, Leena; von Bonsdorff, Carl-Henrik
Future Virology2014

Investigating BOLD signal variability and its physiological signal sources in Alzheimer's disease, behavioral variant frontotemporal dementia, and schizophrenia

Open access
Tuovinen, Timo
Acta Universitatis Ouluensis. Series D, Medica2024

Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort

Peer-reviewed
Open access
DOI
10.1007/s10689-024-00400-4
Sipilä, Lauri J; Aavikko, Mervi; Ravantti, Janne; Martin, Samantha; Kuopio, Teijo; Lahtinen, Laura; ...
Familial cancer2024

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Peer-reviewed
Open access
DOI
10.1186/s40478-020-0879-z
2020

Pathogenic REST variant causing Jones syndrome and a review of the literature

Peer-reviewed
2023

Pathogenic REST variant causing Jones syndrome and a review of the literature

Peer-reviewed
Open access
DOI
10.1038/s41431-022-01258-9
2022

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

Peer-reviewed
Open access
DOI
10.1212/NXG.0000000000000548
2021

Hantavirus infection: an emerging infectious disease causing acute renal failure

Peer-reviewed
DOI
10.1038/ki.2012.360
2013

Haptoglobin Hp1 variant does not associate with small vessel disease

Peer-reviewed
Open access
DOI
10.3390/brainsci10010018
2020

Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability

Peer-reviewed
Open access
DOI
10.2174/0109298673365248250312064016
2025

Emerging and re- emerging enteric viruses causing multinational foodborne disease outbreaks

Peer-reviewed
DOI
10.2217/fvl.13.128
2014

Investigating BOLD signal variability and its physiological signal sources in Alzheimer's disease, behavioral variant frontotemporal dementia, and schizophrenia

Open access
2024

Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort

Peer-reviewed
Open access
DOI
10.1007/s10689-024-00400-4
2024