Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sandra Pilar Henriksen"'
Autor:
Lasse Pihlstrøm, Gemma Shireby, Hanneke Geut, Sandra Pilar Henriksen, Annemieke J. M. Rozemuller, Jon-Anders Tunold, Eilis Hannon, Paul Francis, Alan J. Thomas, Seth Love, Jonathan Mill, Wilma D. J. van de Berg, Mathias Toft
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Parkinson’s disease and dementia with Lewy bodies are closely related neurodegenerative disorders, although the epigenetic similarities are not well known. Here, the authors study Lewy pathology and DNA methylation in postmortem human frontal corte
Externí odkaz:
https://doaj.org/article/d728cc5efc57474ba21945dd09b42cb5
Autor:
Margrete Langmyhr, Sandra Pilar Henriksen, Chiara Cappelletti, Wilma D. J. van de Berg, Lasse Pihlstrøm, Mathias Toft
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Genome-wide association studies have identified genetic variation in genomic loci associated with susceptibility to Parkinson’s disease (PD), the most common neurodegenerative movement disorder worldwide. We used allelic expression profili
Externí odkaz:
https://doaj.org/article/911000b21a6c43fa84edbe5866d2fd5f
Autor:
Jon-Anders Tunold, Hanneke Geut, J. M. Annemieke Rozemuller, Sandra Pilar Henriksen, Mathias Toft, Wilma D. J. van de Berg, Lasse Pihlstrøm
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Introduction: Cognitive decline and dementia are common and debilitating non-motor phenotypic features of Parkinson's disease with a variable severity and time of onset. Common genetic variation of the Apolipoprotein E (APOE) and micro-tubule associa
Externí odkaz:
https://doaj.org/article/750e219866714455a1ac4e9a8e75c8d4
Autor:
Mathias Toft, Jonathan Mill, Sandra Pilar Henriksen, Annemieke J.M. Rozemuller, Jon-Anders Tunold, Paul T. Francis, Seth Love, Eilis Hannon, Alan J. Thomas, Lasse Pihlstrøm, Gemma Shireby, Hanneke Geut, Netherlands Brain Bank, Wilma D.J. van de Berg
Parkinson’s disease (PD) and dementia with Lewy bodies (DLB) are closely related progressive disorders with no available causal therapy, neuropathologically characterized by intraneuronal aggregates of misfolded α-synuclein. To explore the role of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9c5038942a5a380ef6b8f88e33eda7c
https://doi.org/10.1101/2021.10.07.21264552
https://doi.org/10.1101/2021.10.07.21264552
Autor:
Sandra Pilar Henriksen, J. M.Annemieke Rozemuller, Lasse Pihlstrøm, Hanneke Geut, Wilma D.J. van de Berg, Jon Anders Tunold, Mathias Toft
Publikováno v:
Tunold, J-A, Geut, H, Rozemuller, J M A, Henriksen, S P, Toft, M, van de Berg, W D J & Pihlstrom, L 2021, ' APOE and MAPT Are Associated With Dementia in Neuropathologically Confirmed Parkinson's Disease ', Frontiers in Neurology, vol. 12, 631145 . https://doi.org/10.3389/fneur.2021.631145, https://doi.org/10.3389/fneur.2021.631145
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology, 12:631145. Frontiers Media S.A.
Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology, 12:631145. Frontiers Media S.A.
Frontiers in Neurology
Introduction: Cognitive decline and dementia are common and debilitating non-motor phenotypic features of Parkinson's disease with a variable severity and time of onset. Common genetic variation of the Apolipoprotein E (APOE) and micro-tubule associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09891de065b8ab744d88122a3a73f16a
https://research.vumc.nl/en/publications/b90aceae-8749-4e6c-ab7d-69d3fd669f9d
https://research.vumc.nl/en/publications/b90aceae-8749-4e6c-ab7d-69d3fd669f9d
Autor:
Mathias Toft, Margrete Langmyhr, Sandra Pilar Henriksen, Chiara Cappelletti, Lasse Pihlstrøm, Wilma D.J. van de Berg
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Langmyhr, M, Henriksen, S P, Cappelletti, C, van de Berg, W D J, Pihlstrom, L & Toft, M 2021, ' Allele-specific expression of Parkinson’s disease susceptibility genes in human brain ', Scientific Reports, vol. 11, no. 1, 504 . https://doi.org/10.1038/s41598-020-79990-9, https://doi.org/10.1038/s41598-020-79990-9
Scientific Reports, 11(1):504. Nature Publishing Group
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Langmyhr, M, Henriksen, S P, Cappelletti, C, van de Berg, W D J, Pihlstrom, L & Toft, M 2021, ' Allele-specific expression of Parkinson’s disease susceptibility genes in human brain ', Scientific Reports, vol. 11, no. 1, 504 . https://doi.org/10.1038/s41598-020-79990-9, https://doi.org/10.1038/s41598-020-79990-9
Scientific Reports, 11(1):504. Nature Publishing Group
Genome-wide association studies have identified genetic variation in genomic loci associated with susceptibility to Parkinson’s disease (PD), the most common neurodegenerative movement disorder worldwide. We used allelic expression profiling of gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a52a34937254d724a948b799b280ab
https://pubmed.ncbi.nlm.nih.gov/33436766
https://pubmed.ncbi.nlm.nih.gov/33436766
Autor:
Mike A. Nalls, Chiara Cappelletti, Wilma D.J. van de Berg, Mathias Toft, Victoria Berge-Seidl, J. Raphael Gibbs, Sandra Pilar Henriksen, Cornelis Blauwendraat, Lasse Pihlstrøm, Mark R. Cookson, Andrew B. Singleton, Margrete Langmyhr
Publikováno v:
Annals of Neurology. 84:117-129
OBJECTIVE The goal of this study was to refine our understanding of disease risk attributable to common genetic variation in SNCA, a major locus in Parkinson disease, with potential implications for clinical trials targeting α-synuclein. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::405e8bfd3f912ed10183288e5b1c2326
https://doi.org/10.1002/ana.25274
https://doi.org/10.1002/ana.25274
Autor:
Zafar Iqbal, Jeanette Koht, Mathias Toft, Inger Marie Skogseid, Sandra Pilar Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Lasse Pihlstrøm, Osmar Norberto de Souza
Publikováno v:
Neurology: Genetics
DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91cba90c63922f76a814eabb3c50a40f
http://europepmc.org/articles/PMC6563516
http://europepmc.org/articles/PMC6563516
Autor:
Lasse, Pihlstrøm, Cornelis, Blauwendraat, Chiara, Cappelletti, Victoria, Berge-Seidl, Margrete, Langmyhr, Sandra Pilar, Henriksen, Wilma D J, van de Berg, J Raphael, Gibbs, Mark R, Cookson, Andrew B, Singleton, Mike A, Nalls, Mathias, Toft
Publikováno v:
Annals of neurology. 84(1)
OBJECTIVE: The goal of this study was to refine our understanding of disease risk attributable to common genetic variation in SNCA, a major locus in Parkinson disease, with potential implications for clinical trials targeting α−synuclein. We aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::14551e4ca5509da441071741183ab155
https://pubmed.ncbi.nlm.nih.gov/30146727
https://pubmed.ncbi.nlm.nih.gov/30146727
Autor:
Iselin M Wedding, Jeanette Koht, Mathias Toft, Lasse Pihlstrøm, Sandra Pilar Henriksen, Aina Rengmark, Siri Lynne Rydning, Chantal M. E. Tallaksen, Zafar Iqbal
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0174667 (2017)
PLoS ONE
PLoS ONE
Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7843fcccfdf48437084d680b920e518e
http://hdl.handle.net/10852/62415
http://hdl.handle.net/10852/62415