المؤلفون: Aittomäki, K. (Kristiina), Aaltonen, K. (Kirsimari), Kuismin, O. (Outi), Kurra, V. (Venla), Mäkinen, M. (Marika), Pöyhönen, M. (Minna), Rajala, K. (Katri), Toiminen, H. (Heidi), Haanpää, M. K. (Maria K.), Kankuri-Tammilehto, M. (Minna)

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe20231002138198

المؤلفون: Pöyhönen, M. (Minna)

مصطلحات موضوعية: NF1, incidence, population-based, prevalence

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/0355-3221; info:eu-repo/semantics/altIdentifier/eissn/1796-2234

الاتاحة: http://urn.fi/urn:isbn:951425418X

المؤلفون: Messerschmidt, C, Foddis, M, Blumenau, S, Müller, S, Bentele, K, Holtgrewe, M, Kun-Rodrigues, C, Alonso, I, Carmo Macario, M, Morgadinho, AS, Velon, AG, Santo, G, Santana, I, Mönkäre, S, Kuuluvainen, L, Schleutker, J, Pöyhönen, M, Myllykangas, L, Senatore, A, Berchtold, D, Winek, K, Meisel, A, Pavlovic, A, Kostic, V, Dobricic, V, Lohmann, E, Hanagasi, H, Guven, G, Bilgic, B, Bras, J, Guerreiro, R, Beule, D, Dirnagl, U, Sassi, C

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Aged, Amino Acid Substitution, Animals, Brain Ischemia / genetics, Brain Ischemia / metabolism, Brain Ischemia / pathology, Disease Models, Animal, Female, Humans, Male, Mice, Microfilament Proteins / genetics, Microfilament Proteins / metabolism, Middle Aged, Mutation, Missense, Stroke / genetics, Stroke/ metabolism, Stroke / pathology

وصف الملف: application/pdf

Relation: Scientific Reports, vol.11(1):6072; https://www.nature.com/articles/s41598-021-84919-x; https://hdl.handle.net/10216/152462

الاتاحة: https://hdl.handle.net/10216/152462
https://doi.org/10.1038/s41598-021-84919-x

المؤلفون: Messiaen, L, Riccardi, G, Peltonen, J, Maertens, O, Callens, T, Karvonen, SL, Leisti, EL, Koivunen, J, Vandenbroucke, M., Stephens, K, Pöyhönen, M

المساهمون: HUSLAB

مصطلحات موضوعية: GENE, TYPE-1, IDENTIFICATION, FREQUENCY, SEQUENCE, DEFECTS, DOMAIN, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Messiaen , L , Riccardi , G , Peltonen , J , Maertens , O , Callens , T , Karvonen , SL , Leisti , EL , Koivunen , J , Vandenbroucke , M , Stephens , K & Pöyhönen , M 2003 , ' Independent NF1 mutations in two large families with spinal neurofibromatosis ' , Journal of Medical Genetics , vol. 40 , no. 2 , pp. 122-126 . https://doi.org/10.1136/jmg.40.2.122; ORCID: /0000-0003-2037-2744/work/93740676; http://hdl.handle.net/10138/329831; af1e03de-81ce-4c8d-a631-78c5dafaff69; 000180999900007

الاتاحة: http://hdl.handle.net/10138/329831

المؤلفون: Tuominen, S, Juvonen, V., Amberla, K, Jolma, T, Rinne, JO, Tuisku, S, Kurki, T, Marttila, R, Pöyhönen, M, Savontaus, ML, Viitanen, M, Kalimo, H

المساهمون: HUSLAB

مصطلحات موضوعية: CADASIL, dementia, vascular, homozygote, magnetic resonance imaging, neuropsychological tests, tomography, emission computed, HUNTINGTONS-DISEASE, SPECTRUM, INFARCTS, LESIONS, MRI, Neurosciences, Neurology and psychiatry, Biomedicine

وصف الملف: application/pdf

Relation: Tuominen , S , Juvonen , V , Amberla , K , Jolma , T , Rinne , JO , Tuisku , S , Kurki , T , Marttila , R , Pöyhönen , M , Savontaus , ML , Viitanen , M & Kalimo , H 2001 , ' Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation ' , Stroke , vol. 32 , no. 8 , pp. 1767-1774 . https://doi.org/10.1161/01.STR.32.8.1767; ORCID: /0000-0003-2037-2744/work/93740673; http://hdl.handle.net/10138/329832; 5061fd60-baeb-4932-84a5-2a2e728fdc5a; 000170387400014

الاتاحة: http://hdl.handle.net/10138/329832

المؤلفون: Kuuluvainen, L, Kaivola, K, Mönkäre, S, Laaksovirta, H, Jokela, M, Udd, B, Valori, M, Pasanen, P, Paetau, A, Traynor, BJ, Stone, DJ, Schleutker, J, Pöyhönen, M, Tienari, PJ, Myllykangas, L

المساهمون: Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University

مصطلحات موضوعية: Genetiikka, kehitysbiologia, fysiologia - Genetics, developmental biology, physiology, Neurologia ja psykiatria - Neurology and psychiatry

وصف الملف: fulltext

Relation: e335; Neurology genetics; https://trepo.tuni.fi//handle/10024/116403; URN:NBN:fi:tuni-201908142900

الاتاحة: https://trepo.tuni.fi//handle/10024/116403

المؤلفون: Foddis, M., Blumenau, S., Holtgrewe, M., Paquette, K., Westra, K., Alonso, I., Macario, M.d.C., Morgadinho, A.S., Velon, A.G., Santo, G., Santana, I., Mönkäre, S., Kuuluvainen, L., Schleutker, J., Pöyhönen, M., Myllykangas, L., Pavlovic, A., Kostic, V., Dobricic, V., Lohmann, E., Hanagasi, H., Santos, M., Guven, G., Bilgic, B., Bras, J., Beule, D., Dirnagl, U., Guerreiro, R., Sassi, C.

مصطلحات موضوعية: Technology Platforms

Relation: TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients. Foddis, M., Blumenau, S., Holtgrewe, M., Paquette, K., Westra, K., Alonso, I., Macario, M.d.C., Morgadinho, A.S., Velon, A.G., Santo, G., Santana, I., Mönkäre, S., Kuuluvainen, L., Schleutker, J., Pöyhönen, M., Myllykangas, L., Pavlovic, A., Kostic, V., Dobricic, V., Lohmann, E., Hanagasi, H., Santos, M., Guven, G., Bilgic, B., Bras, J., Beule, D., Dirnagl, U., Guerreiro, R. and Sassi, C. Neurobiology of Aging 123 : 208-215. March 2023; PMID:36586737; https://doi.org/10.1016/j.neurobiolaging.2022.11.013

الاتاحة: https://edoc.mdc-berlin.de/id/eprint/22959/
https://edoc.mdc-berlin.de/22959/
https://doi.org/10.1016/j.neurobiolaging.2022.11.013

المؤلفون: Miao, Q, Paloneva, T, Tuominen, S, Pöyhönen, M, Tuisku, S, Viitanen, M, Kalimo, H

المصدر: BRAIN PATHOLOGY. 14(4):358-364

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1928141

المؤلفون: Tuominen, S, Juvonen, V, Amberla, K, Jolma, T, Rinne, JO, Tuisku, S, Kurki, T, Marttila, R, Pöyhönen, M, Savontaus, ML

المصدر: STROKE. 32(8):1767-1774

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1938843

المؤلفون: Pasanen, P, Myllykangas, L, Pöyhönen, M, Kiviharju, A, Siitonen, M, Hardy, J, Bras, J, Paetau, A, Tienari, PJ, Guerreiro, R, Verkkoniemi-Ahola, A

المصدر: Eur J Hum Genet (2018) (In press).

مصطلحات موضوعية: Disease genetics, DNA sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10046640/1/Genetics_dementia_Finnish_accepted.pdf; https://discovery.ucl.ac.uk/id/eprint/10046640/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10046640/1/Genetics_dementia_Finnish_accepted.pdf
https://discovery.ucl.ac.uk/id/eprint/10046640/

المؤلفون: Metsähonkala L, Alapulli H, Arvio M, Hiippala A, Hodgson U, Immonen A, Kananen K, Karvonen M, Kataja J, Kälviäinen R, Leppävirta J, Lähdesmäki T, Nisen H, Pöyhönen M, Vanninen R, Vasara K, Vieira P

المساهمون: School of Medicine / Clinical Medicine

وصف الملف: 1850-1857

Relation: SUOMEN LÄÄKÄRILEHTI; http://www.laakarilehti.fi/tieteessa/katsausartikkeli/tuberoosiskleroosi-ndash-suomalainen-diagnoosi-ja-seurantasuositus/; 35; 72; https://erepo.uef.fi/handle/123456789/4492

الاتاحة: https://erepo.uef.fi/handle/123456789/4492

المؤلفون: Siitonen, M, Börjesson-Hanson, A, Pöyhönen, M, Ora, A, Pasanen, P, Bras, J, Kern, S, Kern, J, Andersen, O, Stanescu, H, Kleta, R, Baumann, M, Kalaria, R, Kalimo, H, Singleton, A, Hardy, J, Viitanen, M, Myllykangas, L, Louro Guerreiro, RJ

المصدر: Brain , 140 (5) , Article e29. (2017)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1542980/1/Louro%20Guerreiro_Siitonen2017_accepted.pdf; https://discovery.ucl.ac.uk/id/eprint/1542980/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1542980/1/Louro%20Guerreiro_Siitonen2017_accepted.pdf
https://discovery.ucl.ac.uk/id/eprint/1542980/

المؤلفون: Pasanen, P, Mäkinen, J, Myllykangas, L, Guerreiro, R, Bras, J, Valori, M, Viitanen, M, Baumann, M, Tienari, PJ, Pöyhönen, M, Baumann, P

المصدر: Acta Neurologica Scandinavica , 136 (1) pp. 59-63. (2017)

مصطلحات موضوعية: SLC20A2, deletion, primary familial brain calcification, promoter

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1524760/1/louro_guerreiro_Pasanen_accepted_manuscript_ANE.pdf; https://discovery.ucl.ac.uk/id/eprint/1524760/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1524760/1/louro_guerreiro_Pasanen_accepted_manuscript_ANE.pdf
https://discovery.ucl.ac.uk/id/eprint/1524760/

المؤلفون: Leppävirta, J., Kallionpää, R.A., Uusitalo, E., Pöyhönen, M., Peltonen, J., Peltonen, S.

المصدر: Journal of Investigative Dermatology ; volume 137, issue 10, page S194 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2017.07.104
https://api.elsevier.com/content/article/PII:S0022202X17319693?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X17319693?httpAccept=text/plain

المؤلفون: Kalimo, H, Aho, T, Amberla, K, Baumann, M, Herva, R, Juvonen, V, Kalimo, K, Mononen, H, Myllylä, V, Pöyhönen, M, Rinne, J, Savontaus, ML, Sonninen, P, Sonninen, V, Tuisku, S, Viitanen, M

المصدر: Duodecim. 114(20):2041-51

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:211717724

المؤلفون: Messiaen, L, Riccardi, V, Peltonen, J, Maertens, O, Callens, T, Karvonen, S L, Leisti, E-L, Koivunen, J, Vandenbroucke, I, Stephens, K, Pöyhönen, M

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/40/2/122; http://dx.doi.org/10.1136/jmg.40.2.122

الاتاحة: http://jmg.bmj.com/cgi/content/short/40/2/122
https://doi.org/10.1136/jmg.40.2.122

المؤلفون: Uusitupa, M., Pöyhönen, M., Sarlund, H., Laakso, M., Kari, A., Helenius, T., Alakuijala, L., Eloranta, T.

المصدر: Scandinavian Journal of Clinical and Laboratory Investigation ; volume 53, issue 8, page 811-819 ; ISSN 0036-5513 1502-7686

الاتاحة: http://dx.doi.org/10.3109/00365519309086493
http://www.tandfonline.com/doi/pdf/10.3109/00365519309086493

المؤلفون: David, Dezso, Anand, D., Araújo, C., Gloss, B., Fino, J., Dinger, M., Lindahl, P., Pöyhönen, M., Hannele, L., Lavinha, J.

مصطلحات موضوعية: Balanced Chromosome Translocation, Ectopia Lentis, Keratolenticular Dysgenesis, NECTIN1, OAF, PVRL1, Topologically Associated Domains (TADs), Type 2 Peters Anomaly, Doenças Genéticas

Relation: info:eu-repo/grantAgreement/FCT/3599-PPCDT/118140/PT; info:eu-repo/grantAgreement/FCT/3599-PPCDT/135672/PT; https://www.sciencedirect.com/science/article/pii/S0014483517303007?via%3Dihub; Exp Eye Res. 2018 Mar;168:161-170. doi:10.1016/j.exer.2017.12.012. Epub 2018 Jan 2.; http://hdl.handle.net/10400.18/5484

الاتاحة: http://hdl.handle.net/10400.18/5484
https://doi.org/10.1016/j.exer.2017

المؤلفون: Peltonen J, Kallionpää RA, Pöyhönen M, Peltonen S, Auranen K, Leppävirta J, Järveläinen H

المساهمون: iho- ja sukupuolitautioppi, Dermatology and Venereology, lääket. tdk yhteiset, Lääket. tdk yhteiset, kliinisen laitoksen yhteiset, Department of Clinical Medicine, tyks, vsshp, tyks, vsshp, biolääketieteen laitos, yhteiset, Institute of Biomedicine, tilastotiede, Statistics, 2607300, 2607000, 2607305, 2607100, 2606103

Relation: Journal of Medical Genetics; https://www.utupub.fi/handle/10024/165100; http://dx.doi.org/10.1136/jmedgenet-2020-107062; URN:NBN:fi-fe2021042827001

الاتاحة: https://www.utupub.fi/handle/10024/165100
https://doi.org/10.1136/jmedgenet-2020-107062

المؤلفون: Peltonen J, Rantanen M, Kallionpää RA, Peltonen S, Uusitalo E, Lähteenmäki PM, Pöyhönen M, Pitkäniemi J

المساهمون: kliinisen laitoksen yhteiset, Department of Clinical Medicine, biolääketieteen laitos, yhteiset, Institute of Biomedicine, iho- ja sukupuolitautioppi, Dermatology and Venereology, tyks, vsshp, tyks, vsshp, 2607305, 2607300, 2607100

Relation: 145; International Journal of Cancer; 11; https://www.utupub.fi/handle/10024/162064; URN:NBN:fi-fe2021042825893

الاتاحة: https://www.utupub.fi/handle/10024/162064