المؤلفون: Launonen, Virpi, Vierimaa, Outi, Kiuru, Maija, Isola, Jorma, Roth, Stina, Pukkala, Eero, Sistonen, Pertti, Herva, Riitta, Aaltonen, Lauri A.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2001 Mar . 98(6), 3387-3392.

URL الوصول: https://www.jstor.org/stable/3055245

المؤلفون: Uusimaa, Johanna, Kaarteenaho, Riitta, Paakkola, Teija, Tuominen, Hannu, Karjalainen, Minna K., Nadaf, Javad, Varilo, Teppo, Uusi-Makela, Meri, Suo-Palosaari, Maria, Pietila, Ilkka, Hiltunen, Anniina E., Ruddock, Lloyd, Alanen, Heli, Biterova, Ekaterina, Miinalainen, Ilkka, Salminen, Annamari, Soininen, Raija, Manninen, Aki, Sormunen, Raija, Kaakinen, Mika, Vuolteenaho, Reetta, Herva, Riitta, Vieira, Paivi, Dunder, Teija, Kokkonen, Hannaleena, Moilanen, Jukka S., Rantala, Heikki, Nogee, Lawrence M., Majewski, Jacek, Ramet, Mika, Hallman, Mikko, Hinttala, Reetta

المساهمون: Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: Central nervous system, Cerebropulmonary disease, Multi-organ disease, Interstitial fibrosis, Neurodegeneration, Brain angiogenesis, BENIGN HEREDITARY CHOREA, MUTATIONS, DATABASE, NKX2-1, Neurosciences, Biomedicine

وصف الملف: application/pdf

Relation: The authors would like to thank Professors Eric Shoubridge, Kalervo Hiltunen and Christer Betsholtz, Assistant Professor Michael Vanlandewijck, Adjunct Professor Siri Lehtonen and Dr. Riikka Pietila for their expert advice and support and also Ms. Pirjo Keranen, Ms. Riitta Vuento, Ms. Maarit Haarala, Ms. Hanna Seppala, Ms. Kirsi Sakkinen, the Transgenic Core Facility at Biocenter Oulu, and the Laboratory Animal Centre at the University of Oulu for their expert assistance. Biocenter Oulu Electron Microscopy core facility, a member of Biocenter Finland, is acknowledged for their help with EM analysis. The zebrafish work was carried out at University of Tampere core facility, supported by Biocenter Finland. The digital pathology scanner of Northern Finland Biobank Borealis was used in imaging the neuropathological findings. This work was conducted with support from the Research Council for Health of the Academy of Finland (JU, decision number 138566; RH, decision numbers 266498, 273790 and 303996; MH, decision number 1126662; LR, decision numbers 266457 and 272573); the Sigrid Juselius Foundation (JU, RH and MH); the Foundation for Paediatric Research, Finland (JU and MKK); the Alma and KA Snellman Foundation (JU and MKK); a Marie Curie International Outgoing Fellowship of the European Union's Seventh Framework Programme (Grant agreement number 273669 [BioMit]) (RH); Foundation of the Finnish Anti-Tuberculosis Association (RK); the Jane and Aatos Erkko Foundation (MR); the Competitive State Research Financing of the Expert Responsibility Area of Tampere University Hospital (MR); Special State Grants for Health Research in the Department of Paediatrics and Adolescence at Oulu University Hospital, Finland (JU); the National Heart, Lung and Blood Institute of the US National Institutes of Health under award number HL- 54703 (LMN) and the Eudowood Foundation (LMN).; Uusimaa , J , Kaarteenaho , R , Paakkola , T , Tuominen , H , Karjalainen , M K , Nadaf , J , Varilo , T , Uusi-Makela , M , Suo-Palosaari , M , Pietila , I , Hiltunen , A E , Ruddock , L , Alanen , H , Biterova , E , Miinalainen , I , Salminen , A , Soininen , R , Manninen , A , Sormunen , R , Kaakinen , M , Vuolteenaho , R , Herva , R , Vieira , P , Dunder , T , Kokkonen , H , Moilanen , J S , Rantala , H , Nogee , L M , Majewski , J , Ramet , M , Hallman , M & Hinttala , R 2018 , ' NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) : characterisation of a novel cerebropulmonary disease ' , Acta Neuropathologica , vol. 135 , no. 5 , pp. 727-742 . https://doi.org/10.1007/s00401-018-1817-z; ORCID: /0000-0002-5839-8854/work/44472727; http://hdl.handle.net/10138/301559; f7665447-de2d-4e8a-9288-c1a40ef3a1a8; 85041529795; 000430288700006

الاتاحة: http://hdl.handle.net/10138/301559

المؤلفون: Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsus, Masaaki, DDD Study

المساهمون: Institute for Molecular Medicine Finland, Research Programme for Molecular Neurology, Research Programs Unit, Neuroscience Center, Children's Hospital, Clinicum, Lastenneurologian yksikkö, Medicum, Department of Pathology, Minna Pöyhönen / Principal Investigator, Department of Medical and Clinical Genetics, Tutkimusryhmä Anna-Elina Lehesjoki, Aarno Palotie / Principal Investigator, HUS Children and Adolescents, Genomics of Neurological and Neuropsychiatric Disorders

مصطلحات موضوعية: DNA-SEQUENCING DATA, FOLD MODIFIER, DISCOVERY, DISRUPTION, FRAMEWORK, SYSTEM, MICE, Neurosciences, Biomedicine

وصف الملف: application/pdf

Relation: Muona , M , Ishimura , R , Laari , A , Ichimura , Y , Linnankivi , T , Keski-Filppula , R , Herva , R , Rantala , H , Paetau , A , Pöyhönen , M , Obata , M , Uemura , T , Karhu , T , Bizen , N , Takebayashi , H , McKee , S , Parker , M J , Akawi , N , McRae , J , Hurles , M E , Kuismin , O , Kurki , M I , Anttonen , A-K , Tanaka , K , Palotie , A , Waguri , S , Lehesjoki , A-E , Komatsus , M & DDD Study 2016 , ' Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy ' , American Journal of Human Genetics , vol. 99 , no. 3 , pp. 683-694 . https://doi.org/10.1016/j.ajhg.2016.06.020; ORCID: /0000-0003-2037-2744/work/46650043; ORCID: /0000-0002-2527-5874/work/97266536; http://hdl.handle.net/10138/228037; 0a4052d6-d450-4ccb-872f-92fbde90fe41; 84996848384; 000383114800013

الاتاحة: http://hdl.handle.net/10138/228037

المؤلفون: Forsström, Linda M., Sumi, Koichiro, Mäkinen, Markus J., Oh, Ji Eun, Herva, Riitta, Kleihues, Paul, Ohgaki, Hiroko, Aaltonen, Lauri A.

المصدر: Journal of Neuropathology & Experimental Neurology ; volume 76, issue 10, page 848-853 ; ISSN 0022-3069 1554-6578

الاتاحة: https://doi.org/10.1093/jnen/nlx066
http://academic.oup.com/jnen/article-pdf/76/10/848/19783807/nlx066.pdf

المؤلفون: Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki

المصدر: The American Journal of Human Genetics ; volume 99, issue 3, page 683-694 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2016.06.020
https://api.elsevier.com/content/article/PII:S0002929716302245?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929716302245?httpAccept=text/plain

المؤلفون: Polvi, Anne, Linnankivi, Tarja, Kivelä, Tero, Herva, Riitta, Keating, James P., Mäkitie, Outi, Pareyson, Davide, Vainionpää, Leena, Lahtinen, Jenni, Hovatta, Iiris, Pihko, Helena, Lehesjoki, Anna-Elina

المصدر: The American Journal of Human Genetics ; volume 90, issue 3, page 540-549 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2012.02.002
https://api.elsevier.com/content/article/PII:S0002929712000870?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929712000870?httpAccept=text/plain

المؤلفون: Banerjee, Joanna, Pääkkö, Eija, Harila, Marika, Herva, Riitta, Tuominen, Juho, Koivula, Antero, Lanning, Marjatta, Harila-Saari, Arja

مصطلحات موضوعية: Clinical Investigations

وصف الملف: text/html

Relation: http://neuro-oncology.oxfordjournals.org/cgi/content/short/11/5/543; http://dx.doi.org/10.1215/15228517-2008-122

الاتاحة: http://neuro-oncology.oxfordjournals.org/cgi/content/short/11/5/543
https://doi.org/10.1215/15228517-2008-122

المؤلفون: HERVA, RIITTA

المصدر: Hereditas ; volume 95, issue 1, page 163-164 ; ISSN 0018-0661

الاتاحة: http://dx.doi.org/10.1111/j.1601-5223.1981.tb01335.x

المؤلفون: Götz, Alexandra, Isohanni, Pirjo, Pihko, Helena, Paetau, Anders, Herva, Riitta, Saarenpää-Heikkilä, Outi, Valanne, Leena, Marjavaara, Sanna, Suomalainen, Anu

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/awn236v1; http://dx.doi.org/10.1093/brain/awn236

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/awn236v1
https://doi.org/10.1093/brain/awn236

المؤلفون: Uusimaa, Johanna, Hinttala, Reetta, Rantala, Heikki, Päivärinta, Markku, Herva, Riitta, Röyttä, Matias, Soini, Heidi, Moilanen, Jukka S., Remes, Anne M., Hassinen, Ilmo E., Majamaa, Kari

المصدر: Epilepsia ; volume 49, issue 6, page 1038-1045 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/j.1528-1167.2008.01544.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1167.2008.01544.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1528-1167.2008.01544.x

المؤلفون: Paetau, Anders, Honkala, Heli, Salonen, Riitta, Ignatius, Jaakko, Kestilä, Marjo, Herva, Riitta

المصدر: Journal of Neuropathology & Experimental Neurology ; volume 67, issue 8, page 750-762 ; ISSN 0022-3069 1554-6578

الاتاحة: http://dx.doi.org/10.1097/nen.0b013e318180ec2e

المؤلفون: Hakonen, Anna H., Isohanni, Pirjo, Paetau, Anders, Herva, Riitta, Suomalainen, Anu, Lönnqvist, Tuula

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/130/11/3032; http://dx.doi.org/10.1093/brain/awm242

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/130/11/3032
https://doi.org/10.1093/brain/awm242

المؤلفون: Liu, Jing, Li, Dong, Cao, Bin, Li, Yu-xia, Herva, Riitta, Piao, Yun-shang, Wang, Yan-ling

المصدر: Journal of Histochemistry & Cytochemistry ; volume 55, issue 7, page 701-708 ; ISSN 0022-1554 1551-5044

الاتاحة: http://dx.doi.org/10.1369/jhc.6a7151.2007
http://journals.sagepub.com/doi/pdf/10.1369/jhc.6A7151.2007
http://journals.sagepub.com/doi/full-xml/10.1369/jhc.6A7151.2007

المؤلفون: Kaukola, Tuula, Herva, Riitta, Perhomaa, Marja, Pääkkö, Eija, Kingsmore, Stephen, Vainionpää, Leena, Hallman, Mikko

المصدر: Pediatric Research ; volume 59, issue 3, page 478-483 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/01.pdr.0000182596.66175.ee

المؤلفون: Kärppä, Mikko, Herva, Riitta, Moslemi, Ali-Reza, Oldfors, Anders, Kakko, Sakari, Majamaa, Kari

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/awh515v1; http://dx.doi.org/10.1093/brain/awh515

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/awh515v1
https://doi.org/10.1093/brain/awh515

المؤلفون: Lehtonen, Heli J, Kiuru, Maija, Ylisaukko-oja, Sanna K, Salovaara, Reijo, Herva, Riitta, Koivisto, Pasi A, Vierimaa, Outi, Aittomaki, Kristiina, Pukkala, Eero, Launonen, Virpi, Aaltonen, Lauri A

مصطلحات موضوعية: Short Report

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/jmg.2005.036400v1; http://dx.doi.org/10.1136/jmg.2005.036400

الاتاحة: http://jmg.bmj.com/cgi/content/short/jmg.2005.036400v1
https://doi.org/10.1136/jmg.2005.036400

المؤلفون: Vanharanta, Sakari, Buchta, Mary, McWhinney, Sarah R., Virta, Sanna K., Peçzkowska, Mariola, Morrison, Carl D., Lehtonen, Rainer, Januszewicz, Andrzej, Järvinen, Heikki, Juhola, Matti, Mecklin, Jukka-Pekka, Pukkala, Eero, Herva, Riitta, Kiuru, Maija, Nupponen, Nina N., Aaltonen, Lauri A., Neumann, Hartmut P.H., Eng, Charis

المصدر: The American Journal of Human Genetics ; volume 74, issue 1, page 153-159 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/381054
https://api.elsevier.com/content/article/PII:S0002929707619533?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707619533?httpAccept=text/plain

المؤلفون: Kaarteenaho-Wiik, Riitta, Kinnula, Vuokko L., Herva, Riitta, Soini, Ylermi, Pöllänen, Raimo, Pääkkö, Paavo

المصدر: Journal of Histochemistry & Cytochemistry ; volume 50, issue 3, page 423-431 ; ISSN 0022-1554 1551-5044

الاتاحة: http://dx.doi.org/10.1177/002215540205000313
http://journals.sagepub.com/doi/pdf/10.1177/002215540205000313
http://journals.sagepub.com/doi/full-xml/10.1177/002215540205000313

المؤلفون: Vaskivuo, Tommi E, Aittomäki, Kristiina, Anttonen, Mikko, Ruokonen, Aimo, Herva, Riitta, Osawa, Yoshio, Heikinheimo, Markku, Huhtaniemi, Ilpo, Tapanainen, Juha S

المصدر: Fertility and Sterility ; volume 78, issue 1, page 108-113 ; ISSN 0015-0282

الاتاحة: http://dx.doi.org/10.1016/s0015-0282(02)03148-5
https://api.elsevier.com/content/article/PII:S0015028202031485?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0015028202031485?httpAccept=text/plain

المؤلفون: Reis, Rui M., Herva, Riitta, Brandner, Sebastian, Koivukangas, John, Mironov, Nikolai, Bär, Walter, Kleihues, Paul, Ohgaki, Hiroko

المصدر: Journal of Neuropathology & Experimental Neurology ; volume 60, issue 2, page 208-215 ; ISSN 0022-3069 1554-6578

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Neurology, General Medicine, Pathology and Forensic Medicine

الاتاحة: http://dx.doi.org/10.1093/jnen/60.2.208
http://academic.oup.com/jnen/article-pdf/60/2/208/8133984/60-2-208.pdf