المؤلفون: Lönnqvist, Tuula, Häyrinen, Taru, Rantala, Seija-Leena, Pihko, Helena

المساهمون: Clinicum, HUS Lasten ja nuorten sairaudet, Lastenklinikka

مصطلحات موضوعية: Neurologists, Pediatricians, Naisten- ja lastentaudit

وصف الملف: application/pdf

Relation: Lönnqvist , T , Häyrinen , T , Rantala , S-L & Pihko , H 2020 , ' In memoriam : Tuula Louhimo 15.5.1930-7.8.2020 ' , Suomen lääkärilehti , Vuosikerta. 75 , Nro 45 , Sivut 2394-2394 . < https://www.laakarilehti.fi/pdf/2020/SLL452020-2394.pdf >; RIS: urn:A6A5D91DEA7917447D320B778C28C260; http://hdl.handle.net/10138/322440; 95a6b127-29c4-4870-9753-d7e064c62452

الاتاحة: http://hdl.handle.net/10138/322440

المؤلفون: Anttonen, Anna-Kaisa, Laari, Anni, Kousi, Maria, Yang, Yawei J., Jääskeläinen, Tiina, Somer, Mirja, Siintola, Eija, Jakkula, Eveliina, Muona, Mikko, Tegelberg, Saara, Lönnqvist, Tuula, Pihko, Helena, Valanne, Leena, Paetau, Anders, Lun, Melody P., Hästbacka, Johanna, Kopra, Outi, Joensuu, Tarja, Katsanis, Nicholas, Lehtinen, Maria K., Palvimo, Jorma J., Lehesjoki, Anna-Elina

المساهمون: Department of Medical and Clinical Genetics, Neuroscience Center, Tutkimusryhmä Anna-Elina Lehesjoki, University of Helsinki, Research Programme for Molecular Neurology, Research Programs Unit, Medicum, Doctoral Programme in Biomedicine, Institute for Molecular Medicine Finland, HUS Children and Adolescents, Clinicum, Children's Hospital, Lastenneurologian yksikkö, Department of Diagnostics and Therapeutics, HUS Medical Imaging Center, HUSLAB, Department of Pathology

مصطلحات موضوعية: PEHO syndrome, progressive encephalopathy, ZNHIT3, cerebellum, THYROID-HORMONE RECEPTOR, SYNDROME PROGRESSIVE ENCEPHALOPATHY, OPTIC ATROPHY, SEVERE IMPAIRMENT, OXIDATIVE-STRESS, EDEMA, HYPSARRHYTHMIA, DIFFERENTIATION, HYPOARRHYTHMIA, COACTIVATOR, Neurology and psychiatry, Neurosciences

وصف الملف: application/pdf

Relation: This project was funded by Folkhalsan Research Foundation (to A.-E.L.), Sloan Research Fellowship (to M.K.L.), Arvo and Lea Ylppo Foundation (to A.-K.A.), Doctoral Programme in Biomedicine University of Helsinki (to M.M.), Emil Aaltonen Foundation (to A.-K.A.), Foundation for Pediatric Research, Ulla Hjelt fund (to J.H.), and Helsinki University Central Hospital Research Fund (to A.-K.A. and J.H.). M.K.L. is a NYSCF - Robertson Investigator. J.J.P. laboratory is supported by the Academy of Finland and the Sigrid Juselius Foundation.; Anttonen , A-K , Laari , A , Kousi , M , Yang , Y J , Jääskeläinen , T , Somer , M , Siintola , E , Jakkula , E , Muona , M , Tegelberg , S , Lönnqvist , T , Pihko , H , Valanne , L , Paetau , A , Lun , M P , Hästbacka , J , Kopra , O , Joensuu , T , Katsanis , N , Lehtinen , M K , Palvimo , J J & Lehesjoki , A-E 2017 , ' ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss ' , Brain : a journal of neurology , vol. 140 , pp. 1267-1279 . https://doi.org/10.1093/brain/awx040; ORCID: /0000-0001-5682-4787/work/40560432; http://hdl.handle.net/10138/304497; 325938fe-2f66-43af-a61a-07834a045edd; 85019593390; 000400069900018

الاتاحة: http://hdl.handle.net/10138/304497

المؤلفون: Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina

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

مصطلحات موضوعية: Neurosciences

وصف الملف: application/pdf

Relation: Muona , M , Fukata , Y , Anttonen , A-K , Laari , A , Palotie , A , Pihko , H , Lönnqvist , T , Valanne , L , Somer , M , Fukata , M & Lehesjoki , A-E 2016 , ' Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy ' , Neurology Genetics , vol. 2 , no. 1 , e46 . https://doi.org/10.1212/NGX.0000000000000046; ORCID: /0000-0002-2527-5874/work/97266526; http://hdl.handle.net/10138/174560; 367d6002-fc8c-47f0-a377-79e6fce5347a; 84994347221

الاتاحة: http://hdl.handle.net/10138/174560

المؤلفون: Anttonen, Anna-Kaisa, Laari, Anni, Kousi, Maria, Yang, Yawei J., Jääskeläinen, Tiina, Somer, Mirja, Siintola, Eija, Jakkula, Eveliina, Muona, Mikko, Tegelberg, Saara, Lönnqvist, Tuula, Pihko, Helena, Valanne, Leena, Paetau, Anders, Lun, Melody P., Hästbacka, Johanna, Kopra, Outi, Joensuu, Tarja, Katsanis, Nicholas, Lehtinen, Maria K., Palvimo, Jorma J., Lehesjoki, Anna-Elina

المصدر: Brain ; volume 140, issue 5, page 1267-1279 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awx040
http://academic.oup.com/brain/article-pdf/140/5/1267/18223411/awx040.pdf

المؤلفون: Pihko, Helena S.

المصدر: Child Neurology ; page 907-909

الاتاحة: http://dx.doi.org/10.1016/b978-0-12-821635-4.00078-3
https://api.elsevier.com/content/article/PII:B9780128216354000783?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780128216354000783?httpAccept=text/plain

المؤلفون: Sofou, Kalliopi, De Coo, Irenaeus F. M., Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B., Lonnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A., Tulinius, Mar, Darin, Niklas

المساهمون: Research Programme for Molecular Neurology, Research Programs Unit, Clinicum, Children's Hospital, Lastenneurologian yksikkö, Lastentautien yksikkö, HUS Children and Adolescents

مصطلحات موضوعية: Leigh syndrome, Natural history, Survival, Relapse, Prognosis, Diagnostic criteria, BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL DISORDERS, CLINICAL-FEATURES, DNA ABNORMALITIES, MISSENSE MUTATION, CASE SERIES, FOLLOW-UP, DEFICIENCY, CHILDHOOD, CHILDREN, Gynaecology and paediatrics, Neurology and psychiatry

وصف الملف: application/pdf

Relation: Sofou , K , De Coo , I F M , Isohanni , P , Ostergaard , E , Naess , K , De Meirleir , L , Tzoulis , C , Uusimaa , J , De Angst , I B , Lonnqvist , T , Pihko , H , Mankinen , K , Bindoff , L A , Tulinius , M & Darin , N 2014 , ' A multicenter study on Leigh syndrome : disease course and predictors of survival ' , Orphanet journal of rare diseases , vol. 9 , 52 . https://doi.org/10.1186/1750-1172-9-52; http://hdl.handle.net/10138/162338; d2040f99-b84a-453d-979b-212d4b7336ac; 84899557764; 000335259300001

الاتاحة: http://hdl.handle.net/10138/162338

المؤلفون: Vasilescu, Catalina, Isohanni, Pirjo, Palomäki, Maarit, Pihko, Helena, Suomalainen, Anu, Carroll, Christopher J

المصدر: European Journal of Human Genetics ; volume 25, issue 3, page 366-370 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2016.189
http://www.nature.com/articles/ejhg2016189.pdf
http://www.nature.com/articles/ejhg2016189

المؤلفون: Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina

المصدر: Neurology Genetics ; volume 2, issue 1 ; ISSN 2376-7839 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000046
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000046

المؤلفون: Palmio, Johanna, Jonson, Per Harald, Evilä, Anni, Auranen, Mari, Straub, Volker, Bushby, Kate, Sarkozy, Anna, Kiuru-Enari, Sari, Sandell, Satu, Pihko, Helena, Hackman, Peter, Udd, Bjarne

المساهمون: Department of Medical and Clinical Genetics, Haartman Institute (-2014), Medicum, Research Programs Unit, Department of Neurosciences, Clinicum, Neurologian yksikkö, Children's Hospital

مصطلحات موضوعية: Limb-girdle muscular dystrophy, DNAJB6 gene, Childhood-onset, SEQUENCING DATA, MYOPATHY, VARIANTS, Neurosciences

وصف الملف: application/pdf

Relation: Palmio , J , Jonson , P H , Evilä , A , Auranen , M , Straub , V , Bushby , K , Sarkozy , A , Kiuru-Enari , S , Sandell , S , Pihko , H , Hackman , P & Udd , B 2015 , ' Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease ' , Neuromuscular Disorders , vol. 25 , no. 11 , pp. 835-842 . https://doi.org/10.1016/j.nmd.2015.07.014; http://hdl.handle.net/10138/159271; 0c158bb8-3ce5-4fcb-a5f2-cdcf950e2e0d; 84945438628; 000365362200002

الاتاحة: http://hdl.handle.net/10138/159271

المؤلفون: Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Mar, 1953, Darin, Niklas, 1964

المصدر: Orphanet journal of rare diseases. 9(1)

مصطلحات موضوعية: Pediatrics, Pediatrik

وصف الملف: electronic

URL الوصول: https://gup.ub.gu.se/publication/197632

المؤلفون: Matilainen, Sanna, Isohanni, Pirjo, Euro, Liliya, Lönnqvist, Tuula, Pihko, Helena, Kivelä, Tero, Knuutila, Sakari, Suomalainen, Anu

المصدر: European Journal of Human Genetics ; volume 23, issue 3, page 325-330 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2014.128
http://www.nature.com/articles/ejhg2014128.pdf
http://www.nature.com/articles/ejhg2014128

المؤلفون: Carroll, Christopher J, Isohanni, Pirjo, Pöyhönen, Rosanna, Euro, Liliya, Richter, Uwe, Brilhante, Virginia, Götz, Alexandra, Lahtinen, Taina, Paetau, Anders, Pihko, Helena, Battersby, Brendan J, Tyynismaa, Henna, Suomalainen, Anu

مصطلحات موضوعية: New loci

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/50/3/151; http://dx.doi.org/10.1136/jmedgenet-2012-101375

الاتاحة: http://jmg.bmj.com/cgi/content/short/50/3/151
https://doi.org/10.1136/jmedgenet-2012-101375

المؤلفون: Elo, Jenni M., Yadavalli, Srujana S., Euro, Liliya, Isohanni, Pirjo, Götz, Alexandra, Carroll, Christopher J., Valanne, Leena, Alkuraya, Fowzan S., Uusimaa, Johanna, Paetau, Anders, Caruso, Eric M., Pihko, Helena, Ibba, Michael, Tyynismaa, Henna, Suomalainen, Anu

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/dds294v2; http://dx.doi.org/10.1093/hmg/dds294

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/dds294v2
https://doi.org/10.1093/hmg/dds294

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: Hakonen, Anna H, Isohanni, Pirjo, Rantamäki, Maria, Kälviäinen, Reetta, Nordin, Arno, Uusimaa, Johanna, Paetau, Anders, Udd, Bjarne, Pihko, Helena, Wartovaara, Anu

المساهمون: University of Tampere

مصطلحات موضوعية: Neurologia ja psykiatria - Neurology and psychiatry

وصف الملف: fulltext; 1552-1559

Relation: 13; Duodecim; 126; https://trepo.tuni.fi/handle/10024/66016; urn:nbn:uta-3-768

الاتاحة: https://trepo.tuni.fi/handle/10024/66016

المؤلفون: Lönnqvist, Tuula, Paetau, Anders, Valanne, Leena, Pihko, Helena

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/awp045v1; http://dx.doi.org/10.1093/brain/awp045

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/awp045v1
https://doi.org/10.1093/brain/awp045

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: Fellman, Vineta, Lemmelä, Susanna, Sajantila, Antti, Pihko, Helena, Järvelä, Irma

المصدر: Journal of Human Genetics ; volume 53, issue 6, page 554-558 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1007/s10038-008-0284-0
http://www.nature.com/articles/jhg200871.pdf
http://www.nature.com/articles/jhg200871

المؤلفون: Stenqvist, Laura, Paetau, Anders, Valanne, Leena, Suomalainen, Anu, Pihko, Helena

المصدر: Pediatric Research ; volume 58, issue 2, page 258-262 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/01.pdr.0000169966.82325.1a

المؤلفون: Blom, Titta S., Linder, Matts D., Snow, Karen, Pihko, Helena, Hess, Michael W., Jokitalo, Eija, Veckman, Ville, Syvänen, Ann-Christine, Ikonen, Elina

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/12/3/257; http://dx.doi.org/10.1093/hmg/ddg025

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/12/3/257
https://doi.org/10.1093/hmg/ddg025