المؤلفون: Scoyni, Flavia, Sitnikova, Valeriia, Giudice, Luca, Korhonen, Paula, Trevisan, Davide M., Hernandez de Sande, Ana, Gomez-Budia, Mireia, Giniatullina, Raisa, Ugidos, Irene F., Dhungana, Hiramani, Pistono, Cristiana, Korvenlaita, Nea, Välimäki, Nelli Noora, Kangas, Salla M., Hiltunen, Anniina E., Gribchenko, Emma, Kaikkonen-Määttä, Minna U., Koistinaho, Jari, Ylä-Herttuala, Seppo, Hinttala, Reetta, Venø, Morten T., Su, Junyi, Stoffel, Markus, Schaefer, Anne, Rajewsky, Nikolaus, Kjems, Jørgen, LaPierre, Mary P., Piwecka, Monika, Jolkkonen, Jukka, Giniatullin, Rashid, Hansen, Thomas B., Malm, Tarja

المصدر: Scoyni , F , Sitnikova , V , Giudice , L , Korhonen , P , Trevisan , D M , Hernandez de Sande , A , Gomez-Budia , M , Giniatullina , R , Ugidos , I F , Dhungana , H , Pistono , C , Korvenlaita , N , Välimäki , N N , Kangas , S M , Hiltunen , A E , Gribchenko , E , Kaikkonen-Määttä , M U , Koistinaho , J , Ylä-Herttuala , S , Hinttala , R , Venø , M T , Su , J , Stoffel , ....

مصطلحات موضوعية: cell death, circularRNAs, CP: Neuroscience, excitotoxicity, glutamate, ischemic stroke, microRNAs, molecular networks, non-coding RNAs, post-transcriptional regulation

Relation: https://pure.au.dk/portal/en/publications/ed74b3ab-68d9-49e8-94fc-f94388d98044

الاتاحة: https://pure.au.dk/portal/en/publications/ed74b3ab-68d9-49e8-94fc-f94388d98044
https://doi.org/10.1016/j.celrep.2024.113862
http://www.scopus.com/inward/record.url?scp=85186691495&partnerID=8YFLogxK

المؤلفون: Komulainen-Ebrahim, Jonna, Kangas, Salla M, López-Martín, Estrella, Feyma, Timothy, Scaglia, Fernando, Martínez-Delgado, Beatriz, Kuismin, Outi, Suo-Palosaari, Maria, Carr, Lucinda, Hinttala, Reetta, Kurian, Manju A, Uusimaa, Johanna

المصدر: Movement Disorders Clinical Practice (2024) (In press).

مصطلحات موضوعية: NACC1, cyclic, hyperkinetic, movement disorder

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10192338/1/Hyperkinetic%20Movement%20Disorder%20Caused%20by%20the%20Recurrent%20c%20892C%20T.pdf; https://discovery.ucl.ac.uk/id/eprint/10192338/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10192338/1/Hyperkinetic%20Movement%20Disorder%20Caused%20by%20the%20Recurrent%20c%20892C%20T.pdf
https://discovery.ucl.ac.uk/id/eprint/10192338/

المؤلفون: Oikarainen, Jaakko H., Knuutinen, Oula A., Kangas, Salla M., Rahikkala, Elisa J., Pokka, Tytti M.‐L., Moilanen, Jukka S., Hinttala, Reetta M., Vieira, Päivi M., Uusimaa, Johanna M., Suo‐Palosaari, Maria H.

المساهمون: Academy of Finland

المصدر: Developmental Medicine & Child Neurology ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.16036
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.16036

المؤلفون: Järvelä, Viivi, Hamze, Mira, Komulainen-Ebrahim, Jonna, Rahikkala, Elisa, Piispala, Johanna, Kallio, Mika, Kangas, Salla M., Nickl, Tereza, Huttula, Marko, Hinttala, Reetta, Uusimaa, Johanna, Medina, Igor, Immonen, Esa-Ville

المصدر: Frontiers in Molecular Neuroscience ; volume 17 ; ISSN 1662-5099

الاتاحة: http://dx.doi.org/10.3389/fnmol.2024.1372662
https://www.frontiersin.org/articles/10.3389/fnmol.2024.1372662/full

المؤلفون: Mansikkala, Tuomas, Kangas, Salla M., Miinalainen, Ilkka, Angervaniva, Pia, Darin, Niklas, 1964, Blomqvist, Maria K., 1975, Hinttala, Reetta, Huttula, Marko, Uusimaa, Johanna, Patanen, Minna

المصدر: RSC ADVANCES. 14(39):28797-28806

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin

URL الوصول: https://gup.ub.gu.se/publication/341311

المؤلفون: Oikarainen, Jaakko H., Knuutinen, Oula A., Kangas, Salla M., Rahikkala, Elisa J., Pokka, Tytti M.‐L., Moilanen, Jukka S., Hinttala, Reetta M., Vieira, Päivi M., Uusimaa, Johanna M., Suo‐Palosaari, Maria H.

المصدر: Developmental Medicine & Child Neurology; Feb2025, Vol. 67 Issue 2, p186-194, 9p

مصطلحات موضوعية: MAGNETIC resonance imaging, LEUKOENCEPHALOPATHIES, CORPUS callosum, WHITE matter (Nerve tissue), GENETIC disorders

المؤلفون: Hautakangas, Milla‐Riikka, Widgren, Paula, Korpelainen, Paavo, Kangas, Salla M., Komulainen, Tuomas, Vieira, Päivi, Rahikkala, Elisa, Pylkäs, Katri, Tuominen, Hannu, Kokkonen, Hannaleena, Miinalainen, Ilkka, Nadaf, Javad, Majewski, Jacek, Hinttala, Reetta, Uusimaa, Johanna

المساهمون: Academy of Finland, Oulun Yliopiston Tukisäätiö

المصدر: Clinical Genetics ; volume 104, issue 6, page 686-693 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14416
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14416

المؤلفون: Kangas, Salla M., Teppo, Jaakko, Lahtinen, Maija J., Suoranta, Anu, Ghimire, Bishwa, Mattila, Pirkko, Uusimaa, Johanna, Varjosalo, Markku, Katisko, Jani, Hinttala, Reetta

المساهمون: University of Helsinki, Division of Pharmaceutical Chemistry and Technology, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Biosciences, Institute of Biotechnology, Molecular Systems Biology, Pharmaceutical Spectroscopy and Imaging

مصطلحات موضوعية: Deep brain stimulation, Movement disorders, Brain, Proteomics, Transcriptomics, RNA sequencing, LC-MS, Personalized medicine, QUALITY-CONTROL, PROTEOME, Neurosciences

وصف الملف: application/pdf

Relation: This work was supported by the Academy of Finland (Decision Numbers #311934 R.H. [profiling programme] and #331436 J.U.), Pediatric Research Foundation, Finland (J.U. and R.H.), Biocenter Oulu (J.U. and R.H.), Biocenter Finland, Special State Grants for Health Research, Oulu University Hospital, Finland (J.U.) and the Terttu Foundation, Oulu University Hospital, Finland (J.K.).; Kangas , S M , Teppo , J , Lahtinen , M J , Suoranta , A , Ghimire , B , Mattila , P , Uusimaa , J , Varjosalo , M , Katisko , J & Hinttala , R 2022 , ' Analysis of human brain tissue derived from DBS surgery ' , Translational neurodegeneration , vol. 11 , 22 . https://doi.org/10.1186/s40035-022-00297-y; ORCID: /0000-0002-1340-9732/work/112288987; ORCID: /0000-0003-1022-5572/work/112291218; ORCID: /0000-0001-5076-8366/work/152343063; http://hdl.handle.net/10138/343120; 64271512-695d-413b-aa81-355ef8f53197; 000782422700001

الاتاحة: http://hdl.handle.net/10138/343120

المؤلفون: Keskitalo, Paula L., Kangas, Salla M., Sard, Sirja, Pokka, Tytti, Glumoff, Virpi, Kulmala, Petri, Vähäsalo, Paula

المساهمون: Stiftelsen Alma och K. A. Snellman Säätiö, The Finnish Rheumatic Disease Research Foundation, Suomen Lääketieteen Säätiö, Suomen Kulttuurirahasto, Lastentautien Tutkimussäätiö, Päivikki ja Sakari Sohlbergin Säätiö

المصدر: Pediatric Rheumatology ; volume 20, issue 1 ; ISSN 1546-0096

الاتاحة: http://dx.doi.org/10.1186/s12969-022-00701-x
https://link.springer.com/content/pdf/10.1186/s12969-022-00701-x.pdf
https://link.springer.com/article/10.1186/s12969-022-00701-x/fulltext.html

المؤلفون: Hiltunen, Anniina E., Kangas, Salla M., Ohlmeier, Steffen, Pietilä, Ilkka, Hiltunen, Jori, Tanila, Heikki, McKerlie, Colin, Govindan, Subashika, Tuominen, Hannu, Kaarteenaho, Riitta, Hallman, Mikko, Uusimaa, Johanna, Hinttala, Reetta

المصدر: Molecular Medicine. 26(1)

مصطلحات موضوعية: FINCA, NHLRC2, hnRNP C1, C2, Crispr, Cas9, Neuronal precursor cell, 2D-DIGE

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-432660
https://doi.org/10.1186/s10020-020-00245-4
https://uu.diva-portal.org/smash/get/diva2:1521298/FULLTEXT01.pdf

المؤلفون: Knuutinen, Oula, Pyle, Angela, Suo-Palosaari, Maria, Duff, Jennifer, Froukh, Tawfiq, Lehesjoki, Anna-Elina, Kangas, Salla M., Cassidy, James, Maraqa, Latifa, Keski-Filppula, Riikka, Kokkonen, Hannaleena, Uusimaa, Johanna, Horvath, Rita, Vieira, Päivi

المساهمون: University of Helsinki, Medicum

مصطلحات موضوعية: brain atrophy, infantile spasms, Pol I transcription initiation complex proteins, TATA-binding protein associated factors, ENCEPHALOPATHY, PROTEIN, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Arvo and Lea Ylppo Foundation; Oulun Laaketieteellinen Tutkimussaatio; Stiftelsen Alma och K. A. Snellman Saatio; Newton Fund (MR/N027302/1), the Medical Research Council (UK) (MR/N025431/1), The Wellcome Investigator Award (109915/Z/15/Z), the Lily Foundation UK, the Evelyn Trust; Knuutinen , O , Pyle , A , Suo-Palosaari , M , Duff , J , Froukh , T , Lehesjoki , A-E , Kangas , S M , Cassidy , J , Maraqa , L , Keski-Filppula , R , Kokkonen , H , Uusimaa , J , Horvath , R & Vieira , P 2020 , ' Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype ' , Clinical Genetics , vol. 98 , no. 5 , pp. 493-498 . https://doi.org/10.1111/cge.13827; http://hdl.handle.net/10138/332971; 525c869b-9073-4fba-a7a5-6d6d22d785f4; 000563927200001

الاتاحة: http://hdl.handle.net/10138/332971

المؤلفون: Knuutinen, Oula A, Oikarainen, Jaakko H, Suo‐Palosaari, Maria H, Kangas, Salla M, Rahikkala, Elisa J, Pokka, Tytti M‐L, Moilanen, Jukka S, Hinttala, Reetta M L, Vieira, Päivi M, Uusimaa, Johanna M

المساهمون: Suomen Lääketieteen Säätiö, Stiftelsen Alma och K. A. Snellman Säätiö, Academy of Finland

المصدر: Developmental Medicine & Child Neurology ; volume 63, issue 9, page 1066-1074 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/dmcn.14884
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14884
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/dmcn.14884

المؤلفون: Komulainen-Ebrahim, Jonna, Schreiber, John M., Kangas, Salla M., Pylkäs, Katri, Suo-Palosaari, Maria, Rahikkala, Elisa, Liinamaa, Johanna, Immonen, Esa-Ville, Hassinen, Ilmo, Myllynen, Päivi, Rantala, Heikki, Hinttala, Reetta, Uusimaa, Johanna

المساهمون: Alma and K.A. Snellman Foundation, Oulu, Finland, Pediatric Research Foundation, Finland, The Finnish Cultural Foundation, North Ostrobothnia Regional Fund, Oulu, Finland, Arvo ja Lea Ylppö Säätiö, Helsinki, Finland, Special State Grants for Health Research in Department of Pediatrics and Adolescence, Oulu University Hospital, Finland

المصدر: Seizure ; volume 69, page 99-104 ; ISSN 1059-1311

الاتاحة: http://dx.doi.org/10.1016/j.seizure.2019.03.010
https://api.elsevier.com/content/article/PII:S1059131117308397?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1059131117308397?httpAccept=text/plain

المؤلفون: Kangas, Salla M., Teppo, Jaakko, Lahtinen, Maija J., Suoranta, Anu, Ghimire, Bishwa, Mattila, Pirkko, Uusimaa, Johanna, Varjosalo, Markku, Katisko, Jani, Hinttala, Reetta

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fe4f8e27e282e6d1389a9e2bae5597f

المؤلفون: Zárybnický, Tomáš, Heikkinen, Anne, Kangas, Salla M., Karikoski, Marika, Martinez-Nieto, Guillermo Antonio, Salo, Miia H., Uusimaa, Johanna, Vuolteenaho, Reetta, Hinttala, Reetta, Sipilä, Petra, Kuure, Satu

المساهمون: Helsinki Institute of Life Science HiLIFE, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Kidney development, Biosciences

مصطلحات موضوعية: LYSOSOMAL STORAGE DISORDER, rare diseases, Finnish disease heritage, STEM-CELL TRANSPLANTATION, MOUSE MODEL, monogenic diseases, CRISPR/Cas9, NEURONAL CEROID-LIPOFUSCINOSIS, DEGENERATION MND MUTANT, MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, CARTILAGE-HAIR HYPOPLASIA, HYDROLETHALUS SYNDROME, 1182 Biochemistry, cell and molecular biology, mouse models, genome engineering, ACUTE FATTY LIVER

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1593::e69d245f5ee2d2e269e71040b5d98403
http://hdl.handle.net/10138/338820

المؤلفون: Zárybnický, Tomáš, Heikkinen, Anne, Kangas, Salla M., Karikoski, Marika, Martinez-Nieto, Guillermo Antonio, Salo, Miia H., Uusimaa, Johanna, Vuolteenaho, Reetta, Hinttala, Reetta, Sipilä, Petra, Kuure, Satu

المساهمون: Helsinki Institute of Life Science HiLIFE, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Kidney development, Biosciences

مصطلحات موضوعية: rare diseases, monogenic diseases, mouse models, CRISPR/Cas9, genome engineering, Finnish disease heritage, 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, NEURONAL CEROID-LIPOFUSCINOSIS, LYSOSOMAL STORAGE DISORDER, CARTILAGE-HAIR HYPOPLASIA, MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, STEM-CELL TRANSPLANTATION, DEGENERATION MND MUTANT, ACUTE FATTY LIVER, MOUSE MODEL, HYDROLETHALUS SYNDROME, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: This research was funded by the Jane and Aatos Erkko Foundation, FinnDisMice consortium; Helsinki Institute of Life Science (HiLIFE), University of Helsinki for S.K.; Foundation for Pediatric Research; the Academy of Finland project grant (#331436) for J.U., and profiling program (grant #311934), University of Oulu for R.H. Open access funding provided by University of Helsinki.; Zárybnický , T , Heikkinen , A , Kangas , S M , Karikoski , M , Martinez-Nieto , G A , Salo , M H , Uusimaa , J , Vuolteenaho , R , Hinttala , R , Sipilä , P & Kuure , S 2021 , ' Modeling Rare Human Disorders in Mice : The Finnish Disease Heritage ' , Cells , vol. 10 , no. 11 , 3158 . https://doi.org/10.3390/cells10113158; ORCID: /0000-0002-9076-0622/work/106788258; ORCID: /0000-0001-6402-9708/work/106792120; http://hdl.handle.net/10138/338820; 457003ad-4e00-45a6-8044-aa8622ea259d; 000732741500001

الاتاحة: http://hdl.handle.net/10138/338820

المؤلفون: Myllykoski, Matti, Itoh, Kouichi, Kangas, Salla M., Heape, Anthony M., Kang, Sung‐Ung, Lubec, Gert, Kursula, Inari, Kursula, Petri

المساهمون: Academy of Finland, Sigrid Jusélius Foundation, Magnus Ehrnrooth Foundation, Department of Biochemistry, University of Oulu, Research and Science Foundation of the City of Hamburg

المصدر: Journal of Neurochemistry ; volume 123, issue 4, page 515-524 ; ISSN 0022-3042 1471-4159

الاتاحة: http://dx.doi.org/10.1111/jnc.12000
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fjnc.12000
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jnc.12000

المؤلفون: Majava, Viivi, Wang, Chaozhan, Myllykoski, Matti, Kangas, Salla M., Kang, Sung Ung, Hayashi, Nobuhiro, Baumgärtel, Peter, Heape, Anthony M., Lubec, Gert, Kursula, Petri

المصدر: Amino Acids ; volume 39, issue 1, page 73-74 ; ISSN 0939-4451 1438-2199

الاتاحة: http://dx.doi.org/10.1007/s00726-010-0583-6
http://link.springer.com/content/pdf/10.1007/s00726-010-0583-6.pdf
http://link.springer.com/article/10.1007/s00726-010-0583-6/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00726-010-0583-6

المؤلفون: Knuutinen, Oula, Pyle, Angela, Suo-Palosaari, Maria, Duff, Jennifer, Froukh, Tawfiq, Lehesjoki, Anna-Elina, Kangas, Salla M, Cassidy, James, Maraqa, Latifa, Keski-Filppula, Riikka, Kokkonen, Hannaleena, Uusimaa, Johanna, Horvath, Rita, Vieira, Päivi

مصطلحات موضوعية: Pol I transcription initiation complex proteins, TATA-binding protein associated factors, brain atrophy, infantile spasms, Child, Preschool, Epilepsy, Female, Fibroblasts, Homozygote, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Mutation, Missense, Phenotype, RNA Polymerase I, Spasms, Infantile, Transcription Factor TFIID

وصف الملف: Print-Electronic; application/octet-stream

Relation: https://www.repository.cam.ac.uk/handle/1810/309896

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/309896
https://doi.org/10.17863/CAM.56996

المؤلفون: Hiltunen, Anniina E., Kangas, Salla M., Ohlmeier, Steffen, Pietilä, Ilkka, Hiltunen, Jori, Tanila, Heikki, McKerlie, Colin, Subashika Govindan, Tuominen, Hannu, Kaarteenaho, Riitta, Hallman, Mikko, Uusimaa, Johanna, Hinttala, Reetta

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9e9555cf0832177d7dc3acd119989e6