Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Theresa Lüth"'
Autor:
Joanne Trinh, Susen Schaake, Carolin Gabbert, Theresa Lüth, Sally A. Cowley, André Fienemann, Kristian K. Ullrich, Christine Klein, Philip Seibler
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Certain structural variants (SVs) including large-scale genetic copy number variants, as well as copy number-neutral inversions and translocations may not all be resolved by chromosome karyotype studies. The identification of gene
Externí odkaz:
https://doaj.org/article/cef0b56f4f56419a8a23798df35cef52
The combined effect of lifestyle factors and polygenic scores on age at onset in Parkinson’s disease
Autor:
Carolin Gabbert, Leonie Blöbaum, Theresa Lüth, Inke R. König, Amke Caliebe, Sebastian Sendel, Björn-Hergen Laabs, Christine Klein, Joanne Trinh
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract The objective of this study was to investigate the association between a Parkinson’s disease (PD)-specific polygenic score (PGS) and protective lifestyle factors on age at onset (AAO) in PD. We included data from 4367 patients with idiopat
Externí odkaz:
https://doaj.org/article/617082d44975422fabdcd48f3a0d9d2d
Autor:
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widel
Externí odkaz:
https://doaj.org/article/66c0687e8cf4413393014cc3043ff3b4
Autor:
Carolin Gabbert, Inke R. König, Theresa Lüth, Meike Kasten, Anne Grünewald, Christine Klein, Joanne Trinh
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Genetic factors, environmental factors, and gene–environment interactions have been found to modify PD risk, age at onset (AAO), and disease progression. The objective of this study was to explore the association of coffee drinking, aspiri
Externí odkaz:
https://doaj.org/article/c686ef57f2ca4c37a2977ca69d3f3c53
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Sequencing quality has improved over the last decade for long-reads, allowing for more accurate detection of somatic low-frequency variants. In this study, we used mixtures of mitochondrial samples with different haplogroups (i.e., a spec
Externí odkaz:
https://doaj.org/article/1c58141749544f659ace6d26082153ab
Autor:
Theresa Lüth, Kobi Wasner, Christine Klein, Susen Schaake, Ronnie Tse, Sandro L. Pereira, Joshua Laß, Lasse Sinkkonen, Anne Grünewald, Joanne Trinh
Publikováno v:
Frontiers in Aging Neuroscience, Vol 13 (2021)
Objective: To establish a workflow for mitochondrial DNA (mtDNA) CpG methylation using Nanopore whole-genome sequencing and perform first pilot experiments on affected Parkin biallelic mutation carriers (Parkin-PD) and healthy controls.Background: Mi
Externí odkaz:
https://doaj.org/article/ab2427362c464665bf259fbc4a62744c
Autor:
Theresa Lüth, Simon Graspeuntner, Kay Neumann, Laura Kirchhoff, Antonia Masuch, Susen Schaake, Mariia Lupatsii, Ronnie Tse, Georg Griesinger, Joanne Trinh, Jan Rupp
Publikováno v:
Journal of Assisted Reproduction and Genetics. 39:2659-2667
Purpose Subclinical alterations of the vaginal microbiome have been described to be associated with female infertility and may serve as predictors for failure of in vitro fertilization treatment. While large prospective studies to delineate the role
Autor:
Paula Saffie Awad, Katja Lohmann, Yasmin Hirmas, Frauke Hinrichs, Mirja Thomsen, Marcelo Kauffman, Theresa Lüth, Joanne Trinh, Ana Westenberger, Pedro Chaná‐Cuevas, Christine Klein
Publikováno v:
Movement Disorders.
Autor:
Max Borsche, Marija Dulovic-Mahlow, Hauke Baumann, Sinem Tunc, Theresa Lüth, Susen Schaake, Selin Özcakir, Ana Westenberger, Alexander Münchau, Evelyn Knappe, Joanne Trinh, Norbert Brüggemann, Katja Lohmann
Publikováno v:
The Cerebellum.
Different pathogenic variants in the DNA polymerase-gamma2 (POLG2) gene cause a rare, clinically heterogeneous mitochondrial disease. We detected a novel POLG2 variant (c.1270 T > C, p.Ser424Pro) in a family with adult-onset cerebellar ataxia and pro
Autor:
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
BackgroundGBAvariants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity ofGBAvariants concerning PD is still not fully understood. Additionally, the frequency ofGBAvariants varies widely across populatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8aa24a9003be808eba99124020944433
https://doi.org/10.1101/2023.02.03.23285410
https://doi.org/10.1101/2023.02.03.23285410