ArticleCells2023
Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia.
Katrin Thüne, Matthias Schmitz, John Wiedenhöft, Orr Shomroni, Stefan Göbel, Timothy Bunck, Neelam Younas, Saima Zafar, Peter Hermann, Inga Zerr
Open access · goldAbstract read
In one paragraphArticle in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
10 authors at 3 institutions in 1 country.
Katrin ThüneDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.
Matthias SchmitzDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.ORCID 0000-0002-5502-681X John WiedenhöftScientific Core Facility Medical Biometry and Statistical Bioinformatics, University Medical Center Goettingen, 37075 Goettingen, Germany.ORCID 0000-0002-6935-1517 Orr ShomroniNGS-Core Unit for Integrative Genomics, Institute of Human Genetics, University Medical Center Goettingen, 37075 Goettingen, Germany.
Stefan GöbelDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.
Timothy BunckDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.
Neelam YounasDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.
Saima ZafarDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.ORCID 0000-0002-4261-0339 Peter HermannDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.
Inga ZerrDepartment of Neurology, National Reference Center for Human Spongiform Encephalopathies, University Medical Center, Georg-August University, 37075 Goettingen, Germany.ORCID 0000-0002-6722-2463 University of Göttingen · DEGerman Center for Neurodegenerative Diseases · DEZimmer Biomet (Germany) · DE
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease with a wide variability in age of onset. Its causes are not known. In the present study, we aimed to analyze genetic risk factors other than the prion protein gene (
Indexed as
Insomnia, Fatal FamilialPrionsAge of OnsetExome SequencingGenes, RegulatorHumansPrion ProteinsPrion ProteinsPrionsage of onsetfatal familial insomniagenetic variantswhole-exome sequencing
Identifiers
PMID37626863
PMCPMC10453322
OpenAlexW4385805807
What OpenQuestion holds
Textmetadata
LicenceCC BY
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