Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Ari, Siitonen"'
Autor:
Kathryn R. Bowles, Derian A. Pugh, Yiyuan Liu, Tulsi Patel, Alan E. Renton, Sara Bandres-Ciga, Ziv Gan-Or, Peter Heutink, Ari Siitonen, Sarah Bertelsen, Jonathan D. Cherry, Celeste M. Karch, Steven J. Frucht, Brian H. Kopell, Inga Peter, Y. J. Park, International Parkinson’s Disease Genomics Consortium (IPDGC), Alexander Charney, Towfique Raj, John F. Crary, A. M. Goate
Publikováno v:
Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-21 (2022)
Abstract Background Parkinson’s disease (PD) is genetically associated with the H1 haplotype of the MAPT 17q.21.31 locus, although the causal gene and variants underlying this association have not been identified. Methods To better understand the g
Externí odkaz:
https://doaj.org/article/dc0f7733fd3c42e08b8f5bd051fbb5cc
Autor:
Laura Kytövuori, Jussi Sipilä, Hiroshi Doi, Anri Hurme-Niiranen, Ari Siitonen, Eriko Koshimizu, Satoko Miyatake, Naomichi Matsumoto, Fumiaki Tanaka, Kari Majamaa
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-4 (2022)
Abstract An intronic expansion (AAGGG)exp in the RFC1 gene has recently been shown to cause recessively inherited cerebellar ataxia, neuropathy, and vestibular areflexia syndrome and, furthermore, a few patients with ataxia and parkinsonism have been
Externí odkaz:
https://doaj.org/article/d3653a1d4f0f47f3aab36057d58d5772
Autor:
Joonas Lipponen, Seppo Helisalmi, Joose Raivo, Ari Siitonen, Hiroshi Doi, Harri Rusanen, Maria Lehtilahti, Mervi Ryytty, Markku Laakso, Fumiaki Tanaka, Kari Majamaa, Laura Kytövuori
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021)
Abstract Background The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations. The aim of
Externí odkaz:
https://doaj.org/article/219ba41ea8ff4b1a8810a00e1d1f9a00
Autor:
Pauli Ylikotila, Jussi Sipilä, Tiina Alapirtti, Riitta Ahmasalo, Eriko Koshimizu, Satoko Miyatake, Anri Hurme‐Niiranen, Ari Siitonen, Hiroshi Doi, Fumiaki Tanaka, Naomichi Matsumoto, Kari Majamaa, Laura Kytövuori
Publikováno v:
European Journal of Neurology. 30:1256-1261
Background and Purpose: The biallelic repeat expansion (AAGGG)exp in the replication factor C subunit 1 gene (RFC1) is a frequent cause of cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) as well as late-onset ataxia. The clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc40b1d5f31866ad0568ac308336bc9f
https://doi.org/10.1111/ene.15717
https://doi.org/10.1111/ene.15717
Autor:
Lisa M. Shulman, Hirotaka Iwaki, David A. Hinds, Jacob Gratten, Huw R. Morris, Joseph Jankovic, Costanza L. Vallerga, J. Raphael Gibbs, John Hardy, Javier Simón-Sánchez, Johan Marinus, Thomas Gasser, Peter Heutink, Alexis Brice, Andrew B. Singleton, Dena G. Hernandez, Jean-Christophe Corvol, Karl Heilbron, Donald G. Grosset, Manu Sharma, Ari Siitonen, Peter M. Visscher, Sonja W. Scholz, Pentti J. Tienari, Lynne Krohn, Mathias Toft, Manuela Tan, Johanna Eerola-Rautio, Mike A. Nalls, Jacobus J. van Hilten, Lasse Pihlstrøm, Claudia Schulte, Ziv Gan-Or, Sara Bandres-Ciga, Cornelis Blauwendraat, Hampton L. Leonard, Alastair J. Noyce, Kari Majamaa, Rainer von Coelln, N Wood, Joshua M. Shulman, Suzanne Lesage
Publikováno v:
Movement disorders 34(6), 866-875 (2019). doi:10.1002/mds.27659
Mov Disord
Movement Disorders, 34(6), 866-875
Mov Disord
Movement Disorders, 34(6), 866-875
Background Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome-wide association studies (GWAS) have shed light on the genetic basis of risk for this disease. However, the genetic determinants of PD age at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd5e3ef56b4f970b8d74fbe53651338
https://doi.org/10.1002/mds.27659
https://doi.org/10.1002/mds.27659
Autor:
Andrew B. Singleton, Kathrin Brockmann, Ziv Gan-Or, Alexis Brice, Lynne Krohn, Ari Siitonen, Mike A. Nalls, Sara Bandres-Ciga, Donald G. Grosset, Alastair J. Noyce, Nicholas W. Wood, Hampton L. Leonard, Manuela Tan, Hirotaka Iwaki, Jennifer A. Ruskey, Jean-Christophe Corvol, Cornelis Blauwendraat, J. R. Gibbs, Francis P. Grenn, Mary B. Makarious, Jacobus J. van Hilten, Suzanne Lesage, Lasse Pihlstrøm, John Hardy, Peter Heutink, Huw R. Morris, Claudia Schulte, Kari Majamaa, Julie Lake, Thomas Gasser, Manu Sharma, Pentti J. Tienari, Johanna Eerola-Rautio, Jonggeol Jeff Kim, Mathias Toft, Johan Marinus, Dena G. Hernandez
Parkinson’s disease (PD) is a complex neurodegenerative disorder. Males are on average ∼1.5 times more likely to develop PD compared to females. Over the years genome-wide association studies (GWAS) have identified numerous genetic risk factors f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::674955606349d62a9e4f44b74ebccaf8
https://doi.org/10.1101/2021.02.09.21250262
https://doi.org/10.1101/2021.02.09.21250262
Autor:
Harri Rusanen, Laura Kytövuori, Ari Siitonen, Joose Raivo, Joonas Lipponen, Kari Majamaa, Markku Laakso, Maria Lehtilahti, Hiroshi Doi, Mervi Ryytty, Fumiaki Tanaka, Seppo Helisalmi
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021)
BMC Neurology
BMC Neurology
Background The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations. The aim of the stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa9b2c2b28acc1be15a854b4b8284d2
http://urn.fi/urn:nbn:fi-fe2021112356425
http://urn.fi/urn:nbn:fi-fe2021112356425
Autor:
Kathryn Bowles, Derian A. Pugh, Kurt Farrell, Natalia Han, Julia TCW, Y. Liu, Shiang An Liang, Lu Qian, Jaroslav Bendl, John F. Fullard, Alan E. Renton, Alicia Casella, Megan A. Iida, Sara Bandres-Ciga, Ziv Gan-Or, Peter Heutink, Ari Siitonen, Sarah Bertelsen, Celeste M. Karch, Steven J. Frucht, Brian H. Kopell, Inga Peter, You Jeong Park, PK Crane, John SK Kauwe, Kevin L. Boehme, Guenter U. Hoglinger, PART Working Group, International Parkinson’s Disease G Consortium (IPDGC), Progressive Supranuclear Palsy Gene Consortium, Alexander Charney, Panagiotis Roussos, JC Wang, Wayne W. Poon, Towfique Raj, John F. Crary, Alison M. Goate
Publikováno v:
SSRN Electronic Journal.
Parkinson’s disease (PD) and progressive supranuclear palsy (PSP) are clinically similar neurodegenerative movement disorders that display unique neuropathological features (i.e. Lewy body pathology and Tau pathology, respectively). While each diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2450740d57bef0aeba561026e9a4e234
https://doi.org/10.2139/ssrn.3518538
https://doi.org/10.2139/ssrn.3518538
Autor:
Towfique Raj, Alison Goate, Ari Siitonen, Celeste M. Karch, Sarah Bertelsen, Alan E. Renton, John F. Crary, Ziv Gan-Or, Yiyuan Liu, Kathryn R. Bowles, Inga Peter, Steven J. Frucht, Alexander W. Charney, Ipdgc, Peter Heutink, Derian A. Pugh, Sara Bandres-Ciga, Brian H. Kopell, You Jeong Park, Günter U. Höglinger
Parkinson’s disease (PD) is genetically associated with the H1 haplotype of the MAPT 17q.21.31 locus, although the causal gene and variants underlying this association have not been identified. To better understand the genetic contribution of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d6706e6d97f237d2d7028adee6d4ff1
https://doi.org/10.1101/860668
https://doi.org/10.1101/860668
Autor:
Raphael Gibbs, Pauli Ylikotila, Ari Siitonen, Mike A. Nalls, Dena G. Hernandez, Laura Kytövuori, Markku Peltonen, Kari Majamaa, Andrew Singleton
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Variants associated with Parkinson’s disease (PD) have generally a small effect size and, therefore, large sample sizes or targeted analyses are required to detect significant associations in a whole exome sequencing (WES) study. Here, we used prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::812324d76564c87cbaf1f12ddf8b81fc
https://pubmed.ncbi.nlm.nih.gov/31827228
https://pubmed.ncbi.nlm.nih.gov/31827228