Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Ann‐Kathrin Hauser"'
Autor:
Kathrin Brockmann, Stefanie Lerche, Simone Baiardi, Marcello Rossi, Isabel Wurster, Corinne Quadalti, Benjamin Roeben, Angela Mammana, Milan Zimmermann, Ann‑Kathrin Hauser, Christian Deuschle, Claudia Schulte, Inga Liepelt-Scarfone, Thomas Gasser, Piero Parchi
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-9 (2024)
Abstract Seed amplification assays have been implemented in Parkinson’s disease to reveal disease-specific misfolded alpha-synuclein aggregates in biospecimens. While the assays’ qualitative dichotomous seeding response is valuable to stratify an
Externí odkaz:
https://doaj.org/article/6e77c04e1bd145a491b1b3ac96f74d02
Autor:
Sinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, Claudia Schulte, Elena Buena-Atienza, Caspar Gross, Ann-Kathrin Hauser, Dheeraj Reddy Bobbili, Nicolas Casadei, Patrick May, Rejko Krüger, on behalf of the NCER-PD Consortium
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-14 (2023)
Abstract Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized risk factor for Parkinson’s disease (PD). Due to the GBAP1 pseudogene, which shares 96% sequence homology with the GBA1 coding region, accurate varian
Externí odkaz:
https://doaj.org/article/7718d5c32af844e6882c7b60f9c51e58
Autor:
Isabel Wurster, Corinne Quadalti, Marcello Rossi, Ann-Kathrin Hauser, Christian Deuschle, Claudia Schulte, Katharina Waniek, Ingolf Lachmann, Christian la Fougere, Kathrin Doppler, Thomas Gasser, Benjamin Bender, Piero Parchi, Kathrin Brockmann
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-8 (2022)
Abstract Lewy-body pathology with aggregation of abnormal conformations of the protein alpha-synuclein (α-Syn) represent the histopathological hallmarks of Parkinson’s disease (PD). Genetic prototypes such as PD due to mutations in the alpha-synuc
Externí odkaz:
https://doaj.org/article/fe2bc764d81a41cfa96c02a1c8680740
Autor:
Sinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, Claudia Schulte, Elena Buena-Atienza, Caspar Gross, Ann-Kathrin Hauser, Dheeraj Reddy Bobbili, Nicolas Casadei, Patrick May, Rejko Krüger, on behalf of the NCER-PD Consortium
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/7ccab39398664c0ebd41162387c282c1
Autor:
Burcu Atasu, Ayse Nur Ozdag Acarlı, Basar Bilgic, Betül Baykan, Erol Demir, Yasemin Ozluk, Aydin Turkmen, Ann-Kathrin Hauser, Gamze Guven, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Thomas Gasser, Ebba Lohmann
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Biallelic pathogenic variants in the SCARB2 gene have been associated with action myoclonus-renal failure (AMRF) syndrome. Even though SCARB2 associated phenotype has been reported to include typical neurological characteristics,
Externí odkaz:
https://doaj.org/article/66b1b6d33c6b477c9c6ba3da3b63921c
Autor:
Kathrin Brockmann, Corinne Quadalti, Stefanie Lerche, Marcello Rossi, Isabel Wurster, Simone Baiardi, Benjamin Roeben, Angela Mammana, Milan Zimmermann, Ann-Kathrin Hauser, Christian Deuschle, Claudia Schulte, Katharina Waniek, Ingolf Lachmann, Simon Sjödin, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Thomas Gasser, Piero Parchi
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-11 (2021)
Abstract The clinicopathological heterogeneity in Lewy-body diseases (LBD) highlights the need for pathology-driven biomarkers in-vivo. Misfolded alpha-synuclein (α-Syn) is a lead candidate based on its crucial role in disease pathophysiology. Real-
Externí odkaz:
https://doaj.org/article/458a88532d6e4fe5b0fad935d77979a7
Autor:
Carina Arnold, Claudia Schulte, Mariana Moscovich, Ulrike Sünkel, Laura Zaunbrecher, Florian Metzger, Thomas Gasser, Gerhard W. Eschweiler, Ann-Kathrin Hauser, Daniela Berg, Walter Maetzler
Publikováno v:
Frontiers in Aging Neuroscience, Vol 10 (2018)
Objective: To determine whether single nucleotide polymorphisms (SNPs) of the cholinergic system and quantitative parameters of postural control are associated in healthy older adults. This is a cross-sectional analysis from the TREND study.Methods:
Externí odkaz:
https://doaj.org/article/5e91a0a2fc2542afa1d01bc673cfb125
Autor:
Karin Srulijes, Kathrin Brockmann, Senait Ogbamicael, Markus A. Hobert, Ann-Kathrin Hauser, Claudia Schulte, Jasmin Fritzen, Michael Schwenk, Thomas Gasser, Daniela Berg, Walter Maetzler
Publikováno v:
Parkinson's Disease, Vol 2017 (2017)
Introduction. Parkinson’s disease patients carrying a heterozygous mutation in the gene glucocerebrosidase (GBA-PD) show faster motor and cognitive decline than idiopathic Parkinson’s disease (iPD) patients, but the mechanisms behind this observa
Externí odkaz:
https://doaj.org/article/c6b8727626204fda83530fe4808070cd
Autor:
Anamika Giri, Gamze Guven, Hasmet Hanagasi, Ann-Kathrin Hauser, Nihan Erginul-Unaltuna, Basar Bilgic, Hakan Gurvit, Peter Heutink, Thomas Gasser, Ebba Lohmann, Javier Simón-Sánchez
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 6 (2016)
Background: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dys
Externí odkaz:
https://doaj.org/article/3b23f336a96f4bf1acde8cb8380411a9
Autor:
Michelle M Mielke, Walter Maetzler, Norman J Haughey, Veera V R Bandaru, Rodolfo Savica, Christian Deuschle, Thomas Gasser, Ann-Kathrin Hauser, Susanne Gräber-Sultan, Erwin Schleicher, Daniela Berg, Inga Liepelt-Scarfone
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e73094 (2013)
Mutations in the gene coding for glucocerebrosidase (GBA), which metabolizes glucosylceramide (a monohexosylceramide) into glucose and ceramide, is the most common genetic risk factor for sporadic Parkinson's disease (PD). GBA mutation carriers are m
Externí odkaz:
https://doaj.org/article/a5a6e48cd197436e9acecf61d54114ee