المؤلفون: Westerlund, Emil, Marelsson, Sigurður E., Karlsson, Michael, Sjövall, Fredrik, Chamkha, Imen, Åsander Frostner, Eleonor, Lundgren, Johan, Fellman, Vineta, Eklund, Erik A., Steding-Ehrenborg, Katarina, Darin, Niklas, Paul, Gesine, Hansson, Magnus J., Ehinger, Johannes K., Elmér, Eskil

المصدر: Heliyon MultiPark: Multidisciplinary research focused on Parkinson´s disease. 10(5)

مصطلحات موضوعية: Biomarkers, Correlation, Mitochondria, Muscle, Platelets, PMBCs, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Immunologi inom det medicinska området, Medical and Health Sciences, Basic Medicine, Immunology in the medical area

الوصول الحر: https://lup.lub.lu.se/record/0d0a4dba-78b2-4aa3-b3b5-669e601b6beaTest
http://dx.doi.org/10.1016/j.heliyon.2024.e26745Test

المؤلفون: Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Irenaeus, Pias-Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Majamaa, Kari, Kaerppae, Mikko, Ortigoza-Escobar, Juan Dario, Tangeraas, Trine, Berland, Siren, Harrison, Emma, Biggs, Heather, Horvath, Rita, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

المصدر: Hikmat , O , Naess , K , Engvall , M , Klingenberg , C , Rasmussen , M , Brodtkorb , E , Ostergaard , E , de Coo , I , Pias-Peleteiro , L , Isohanni , P , Uusimaa , J , Majamaa , K , Kaerppae , M , Ortigoza-Escobar , J D , Tangeraas , T , Berland , S , Harrison , E , Biggs , H , Horvath , R , Darin , N , Rahman , S & Bindoff , L A 2024 , ' Status epilepticus in POLG disease : ....

مصطلحات موضوعية: Epilepsy, Mitochondrial disease, POLG, Refractory status epilepticus, DNA-POLYMERASE-GAMMA, ILAE COMMISSION, MUTATIONS, SPECTRUM

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/582b3a4b-a2c9-4690-a1f0-30cb616a31c7Test

الإتاحة: https://doi.org/10.1007/s00415-024-12463-5Test
https://cris.maastrichtuniversity.nl/en/publications/582b3a4b-a2c9-4690-a1f0-30cb616a31c7Test

المؤلفون: Savvidou, Antri, Sofou, Kalliopi, Eklund, Erik A., Aronsson, Johan, Darin, Niklas

المساهمون: Anna-Lisa och Bror Björnssons Stiftelse, Stiftelsen Samariten, Linnéa och Josef Carlssons Stiftelse

المصدر: European Journal of Neurology ; ISSN 1351-5101 1468-1331

الإتاحة: https://doi.org/10.1111/ene.16283Test

المؤلفون: Savvidou, Antri, Ivarsson, Liz, Naess, Karin, Eklund, Erik A., Lundgren, Johan, Dahlin, Maria, Frithiof, Deborah, Sofou, Kalliopi, Darin, Niklas

المصدر: Journal of Inherited Metabolic Disease. 45(2):248-263

مصطلحات موضوعية: Leigh-like lesions., leukoencephalopathy, magnetic resonance imaging, pyruvate dehydrogenase complex deficiency, stroke-like lesions

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-190863Test
https://doi.org/10.1002/jimd.12463Test
https://umu.diva-portal.org/smash/get/diva2:1623480/FULLTEXT02.pdfTest

المؤلفون: Hikmat, Omar, Isohanni, Pirjo, Keshavan, Nandaki, Ferla, Matteo P., Fassone, Elisa, Abbott, Mary Alice, Bellusci, Marcello, Darin, Niklas, Dimmock, David, Ghezzi, Daniele, Houlden, Henry, Invernizzi, Federica, Kamarus Jaman, Nazreen B., Kurian, Manju A., Morava, Eva, Naess, Karin, Ortigoza-Escobar, Juan Darío, Parikh, Sumit, Pennisi, Alessandra, Barcia, Giulia, Tylleskär, Karin B., Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence A., Fellman, Vineta, Rahman, Shamima

المصدر: Annals of Clinical and Translational Neurology. 8(11):2155-2165

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/91923fb2-2551-4bc0-b6e5-b9e54ab67190Test
http://dx.doi.org/10.1002/acn3.51470Test

المؤلفون: Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnytė, Birutė, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

المصدر: Genetics in medicine., New York : Elsevier Science, 2023, vol. 25, iss. 6, art. no. 100314, p. [1-16]. ; ISSN 1098-3600 ; eISSN 1530-0366

مصطلحات موضوعية: Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Reversible

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:179653566/179653566.pdfTest; https://repository.vu.lt/VU:ELABAPDB179653566&prefLang=en_USTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.015Test
https://repository.vu.lt/VU:ELABAPDB179653566&prefLang=en_USTest

المؤلفون: Lehtonen, Jenni M., Auranen, Mari, Darin, Niklas, Sofou, Kalliopi, Bindoff, Laurence, Hikmat, Omar, Uusimaa, Johanna, Vieira, Päivi, Tulinius, Mar, Lönnqvist, Tuula, de Coo, Irenaeus F., Suomalainen, Anu, Isohanni, Pirjo

المساهمون: Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, HUS Neurocenter, Neurologian yksikkö, Department of Neurosciences, Helsinki University Hospital Area, HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, HUS Helsinki and Uusimaa Hospital District, Neuroscience Center, Helsinki Institute of Life Science HiLIFE, Anu Wartiovaara / Principal Investigator

مصطلحات موضوعية: diagnostics of mitochondrial disease, FGF21, GDF15, mitochondrial disease, muscle biopsy, 3111 Biomedicine, 1182 Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: Biomedicum Helsinki-saatio; Doctoral Program in Biomedicine; Emil Aaltosen Saatio; Helsingin Yliopiston Tiedesaatio; Lastentautien Tutkimussaatio; Maire Taposen Saatio; Maud Kuistilan Muistosaatio; Orionin Tutkimussaatio; Oskar Oflunds Stiftelse; Sigrid Juseliuksen Saatio; Stichting NeMo; Suomen Laaketieteen Saatio; Terveyden Tutkimuksen Toimikunta; The special governmental subsidy for health sciences research of the Helsinki University Hospital; Waldemar von Frenckells Foundation; Lehtonen , J M , Auranen , M , Darin , N , Sofou , K , Bindoff , L , Hikmat , O , Uusimaa , J , Vieira , P , Tulinius , M , Lönnqvist , T , de Coo , I F , Suomalainen , A & Isohanni , P 2020 , ' Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease ' , Journal of Inherited Metabolic Disease , vol. 44 , no. 2 , pp. 469-480 . https://doi.org/10.1002/jimd.12307Test; Bibtex: https://doi.org/10.1002/jimd.12307Test; ea9e21a3-b858-45b8-a823-34e08f4f8dab; http://hdl.handle.net/10138/353190Test; 000572420900001

الإتاحة: https://doi.org/10.1002/jimd.12307Test
http://hdl.handle.net/10138/353190Test

المؤلفون: Parasyri, Maria, Brandstroem, Per, Uusimaa, Johanna, Ostergaard, Elsebet, Hikmat, Omar, Isohanni, Pirjo, Naess, Karin, de Coo, I. F. M., Nascimento Osorio, Andres, Nuutinen, Matti, Lindberg, Christopher, Bindoff, Laurence A., Tulinius, Mar, Darin, Niklas, Sofou, Kalliopi

المساهمون: Research Programs Unit, Clinicum, Children's Hospital, Anu Wartiovaara / Principal Investigator, HUS Children and Adolescents

مصطلحات موضوعية: Mitochondrial disease, Acute kidney injury, Mitochondrial DNA, Renal manifestations, KIDNEY, MUTATIONS, CHILDREN, 3126 Surgery, anesthesiology, intensive care, radiology

وصف الملف: application/pdf

العلاقة: This study was supported by grants from the Swedish Research Council (ALFGBG 77820).; Parasyri , M , Brandstroem , P , Uusimaa , J , Ostergaard , E , Hikmat , O , Isohanni , P , Naess , K , de Coo , I F M , Nascimento Osorio , A , Nuutinen , M , Lindberg , C , Bindoff , L A , Tulinius , M , Darin , N & Sofou , K 2022 , ' Renal Phenotype in Mitochondrial Diseases : A Multicenter Study ' , Kidney diseases: The Journal for Research Exchange between East and West , vol. 8 , pp. 148–159 . https://doi.org/10.1159/000521148Test; e93fdc86-6d20-4cdd-9026-d26ded057ea6; http://hdl.handle.net/10138/353736Test; 000748008500001

الإتاحة: http://hdl.handle.net/10138/353736Test

المؤلفون: Björkman, Kristoffer, Vissing, John, ostergaard, Elsebet, Bindoff, Laurence A., de Coo, Irenaeus F. M., Engvall, Martin, Hikmat, Omar, Isohanni, Pirjo, Kollberg, Gittan, Lindberg, Christopher, Majamaa, Kari, Naess, Karin, Uusimaa, Johanna, Tulinius, Mar, Darin, Niklas

المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Children's Hospital, Clinicum, STEMM - Stem Cells and Metabolism Research Program

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, sequence deletion, paediatrics, phenotype, prognosis, KEARNS-SAYRE SYNDROME, PEARSON-SYNDROME, PREVALENCE, PROGRESSION, MANAGEMENT, DISORDERS, CHILDHOOD, DIAGNOSIS, FEATURES, COHORT, 3123 Gynaecology and paediatrics

وصف الملف: application/pdf

العلاقة: The study was supported by the Queen Silvia Children's Hospital Research Foundation (KB, ND, MT), the Swedish state under an agreement between the Swedish government and the country councils (ND: ALFGBG-718681; MT: ALFGBG-427421), and the Gothenburg Society of Medicine (KB). IFMdC is funded by NeMO (nr. 20_P10).; Björkman , K , Vissing , J , ostergaard , E , Bindoff , L A , de Coo , I F M , Engvall , M , Hikmat , O , Isohanni , P , Kollberg , G , Lindberg , C , Majamaa , K , Naess , K , Uusimaa , J , Tulinius , M & Darin , N 2023 , ' Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population : a multicentre study ' , Journal of Medical Genetics , vol. 60 , no. 1 , pp. 65–73 . https://doi.org/10.1136/jmedgenet-2021-108006Test; 0f458363-932c-4a1e-bc65-0115a9e8c0ad; http://hdl.handle.net/10138/353384Test; 000728713700001

الإتاحة: http://hdl.handle.net/10138/353384Test

المؤلفون: Björkman, Kristoffer, Vissing, John, Østergaard, Elsebet, Bindoff, Laurence A., de Coo, Irenaeus F. M., Engvall, Martin, Hikmat, Omar, Isohanni, Pirjo, Kollberg, Gittan, Lindberg, Christopher, Majamaa, Kari, Naess, Karin, Uusimaa, Johanna, Tulinius, Mar, Darin, Niklas

المصدر: Björkman , K , Vissing , J , Østergaard , E , Bindoff , L A , de Coo , I F M , Engvall , M , Hikmat , O , Isohanni , P , Kollberg , G , Lindberg , C , Majamaa , K , Naess , K , Uusimaa , J , Tulinius , M & Darin , N 2023 , ' Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population : a multicentre study ' , Journal of Medical Genetics , vol. 60 , no. 1 , ....

مصطلحات موضوعية: and neonatal diseases and abnormalities, congenital, hereditary, paediatrics, phenotype, prognosis, sequence deletion

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-108006Test
https://curis.ku.dk/portal/da/publications/phenotypic-spectrum-and-clinical-course-of-single-largescale-mitochondrial-dna-deletion-disease-in-the-paediatric-populationTest(68755a88-171c-44df-838c-7eea1228bdd9).html
https://curis.ku.dk/ws/files/362739299/65.full.pdfTest