Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Liina Kuuluvainen"'
Autor:
Clemens Messerschmidt, Marco Foddis, Sonja Blumenau, Susanne Müller, Kajetan Bentele, Manuel Holtgrewe, Celia Kun-Rodrigues, Isabel Alonso, Maria do Carmo Macario, Ana Sofia Morgadinho, Ana Graça Velon, Gustavo Santo, Isabel Santana, Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Minna Pöyhönen, Liisa Myllykangas, Assunta Senatore, Daniel Berchtold, Katarzyna Winek, Andreas Meisel, Aleksandra Pavlovic, Vladimir Kostic, Valerija Dobricic, Ebba Lohmann, Hasmet Hanagasi, Gamze Guven, Basar Bilgic, Jose Bras, Rita Guerreiro, Dieter Beule, Ulrich Dirnagl, Celeste Sassi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these re
Externí odkaz:
https://doaj.org/article/fd269f7adb7a4eddb42c68dbb59da734
Publikováno v:
Acta Neurologica Scandinavica. 146:643-651
Objectives Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by pathogenic variants in the NOTCH3 gene. In Finland, the majority of CADASIL patients carry th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fcd594b0dad14722758304ad155a213
https://doi.org/10.1111/ane.13703
https://doi.org/10.1111/ane.13703
Autor:
Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Jose Bras, Susanna Roine, Minna Pöyhönen, Rita Guerreiro, Liisa Myllykangas
Publikováno v:
Acta neurologica Scandinavica. 146(1)
Objectives The genetic background of vascular cognitive impairment (VCI) is poorly understood compared to other dementia disorders. The aim of the study was to investigate the genetic background of VCI in a well-characterized Finnish cohort. Material
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf4a1c0caa2db630f5d35d1f15348d6c
https://pubmed.ncbi.nlm.nih.gov/35307828
https://pubmed.ncbi.nlm.nih.gov/35307828
Autor:
Johanna Schleutker, Auli Verkkoniemi-Ahola, Hannaleena Kokkonen, Minna Pöyhönen, Liina Kuuluvainen, Päivi Hartikainen, Anna H. Hakonen, Liisa Myllykangas, Fang Zhao, Saana Mönkäre
Publikováno v:
Stroke. 52
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c77bd19b4270ee083831985a09571215
https://doi.org/10.1161/strokeaha.120.033864
https://doi.org/10.1161/strokeaha.120.033864
Autor:
Celia Kun-Rodrigues, Liina Kuuluvainen, Johanna Schleutker, Jose Bras, Minna Pöyhönen, Susana Carmona, Liisa Myllykangas, Rita Guerreiro, Saana Mönkäre
Publikováno v:
Eur J Hum Genet
Cerebral small vessel disease (CSVD) is the most important cause of vascular cognitive impairment (VCI). Most CSVD cases are sporadic but familial monogenic forms of the disorder have also been described. Despite the variants identified, many CSVD ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e7a31555aa0762bf2980941018cce34
http://hdl.handle.net/10138/333907
http://hdl.handle.net/10138/333907
Autor:
Kristiina Avela, Kristiina Aittomäki, Stephanie Barton, Liina Kuuluvainen, Sanna Seitsonen, Eeva-Marja Sankila, Stuart Gillies
Publikováno v:
Acta Ophthalmologica. 96:183-191
Purpose To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. Methods A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. Results The overall diagnostic yi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a40cb6d6c4d77479bd66f4a257f6ce
https://doi.org/10.1111/aos.13551
https://doi.org/10.1111/aos.13551
Autor:
Liina, Kuuluvainen, Karri, Kaivola, Saana, Mönkäre, Hannu, Laaksovirta, Manu, Jokela, Bjarne, Udd, Miko, Valori, Petra, Pasanen, Anders, Paetau, Bryan J, Traynor, David J, Stone, Johanna, Schleutker, Minna, Pöyhönen, Pentti J, Tienari, Liisa, Myllykangas
Publikováno v:
Neurology: Genetics
Objective To characterize the clinical and neuropathologic features of patients with amyotrophic lateral sclerosis (ALS) with the superoxide dismutase 1 (SOD1) p.Ala90Val mutation, as well as the mutation frequency and the role of oligogenic mechanis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54dd2b6cbf01595a0f09121847062e91
https://pubmed.ncbi.nlm.nih.gov/31086828
https://pubmed.ncbi.nlm.nih.gov/31086828
Autor:
Auli Verkkoniemi-Ahola, Minna Pöyhönen, Liina Kuuluvainen, Liisa Myllykangas, Sirpa Kivirikko
Publikováno v:
Journal of the Neurological Sciences. 408:116555
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc69a2a9e192123cbd8832956280cbeb
https://doi.org/10.1016/j.jns.2019.116555
https://doi.org/10.1016/j.jns.2019.116555
Autor:
Manu Jokela, Liisa Myllykangas, Bryan J. Traynor, Hannu Laaksovirta, Pentti J. Tienari, Johanna Schleutker, Liina Kuuluvainen, Miko Valori, Karri Kaivola, Bjarne Udd, David J. Stone, Anders Paetau, Petra Pasanen, Saana Mönkäre, Minna Pöyhönen
Publikováno v:
Neurology Genetics. 5:e335
ObjectiveTo characterize the clinical and neuropathologic features of patients with amyotrophic lateral sclerosis (ALS) with the superoxide dismutase 1 (SOD1) p.Ala90Val mutation, as well as the mutation frequency and the role of oligogenic mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8261bf09ad745059a9ab832e890d6d2c
https://doi.org/10.1212/nxg.0000000000000335
https://doi.org/10.1212/nxg.0000000000000335
Autor:
Pentti J. Tienari, Liina Kuuluvainen, Anders Paetau, Petra Pasanen, Liisa Myllykangas, Jaana Rummukainen, Maija Siitonen, Minna Pöyhönen
Publikováno v:
Journal of Alzheimer's disease : JAD. 55(3)
Mutations in the progranulin (GRN) gene represent about 5-10% of frontotemporal lobar degeneration (FTLD). We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the age of 60 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03eaa71d8af389377820272f39fef456
https://pubmed.ncbi.nlm.nih.gov/27767988
https://pubmed.ncbi.nlm.nih.gov/27767988