المؤلفون: Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carrol, Christopher J.

المساهمون: HUS Lasten ja nuorten sairaudet, Clinicum, Lastenneurologian yksikkö

مصطلحات موضوعية: Mitochondria, Neurodevelopmental disease, Ogdh, Oxoglutarate dehydrogenase, A-ketoglutarate dehydrogenase, Deficiency, Genetiikka, kehitysbiologia, fysiologia

وصف الملف: application/pdf

Relation: Whittle , E F , Chilian , M , Karimiani , E G , Progri , H , Buhas , D , Kose , M , Ganetzky , R D , Toosi , M B , Torbati , P N , Badv , R S , Shelihan , I , Yang , H , Elloumi , H Z , Lee , S , Jamshidi , Y , Pittman , A M , Houlden , H , Ignatius , E , Rahman , S , Maroofian , R , Yoon , W H & Carrol , C J 2023 , ' Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities ' , Genetics In medicine , Vuosikerta. 25 , Nro 2 , 100332 . https://doi.org/10.1016/j.gim.2022.11.001; http://hdl.handle.net/10138/356336; ee26e507-83ca-4305-9c21-d7f7cff84990; 000932994700001

الاتاحة: http://hdl.handle.net/10138/356336

المؤلفون: Ignatius, Erika, Puosi, Riina, Palomäki, Maarit, Forsbom, Noora, Pohjanpelto, Max, Alitalo, Tiina, Anttonen, Anna-Kaisa, Avela, Kristiina, Haataja, Leena, Carroll, Christopher J., Lönnqvist, Tuula, Isohanni, Pirjo

المساهمون: HUS Children and Adolescents, Research Programs Unit, Lastenneurologian yksikkö, STEMM - Stem Cells and Metabolism Research Program, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, HUS Diagnostic Center, Silmäklinikka, HUS Head and Neck Center, HUSLAB, Medicum, Tutkimusryhmä Anna-Elina Lehesjoki, Department of Medical and Clinical Genetics, Children's Hospital, Clinicum, Anu Wartiovaara / Principal Investigator

مصطلحات موضوعية: EBF3, EBF3-NDD, HADDS, Ataxia, Phenotype, 10q26, VARIANTS, DATABASE, Neurosciences, Neurology and psychiatry, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: Ignatius , E , Puosi , R , Palomäki , M , Forsbom , N , Pohjanpelto , M , Alitalo , T , Anttonen , A-K , Avela , K , Haataja , L , Carroll , C J , Lönnqvist , T & Isohanni , P 2022 , ' Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype ' , European Journal of Paediatric Neurology , vol. 37 , pp. 1-7 . https://doi.org/10.1016/j.ejpn.2021.12.012; ORCID: /0000-0002-8057-6194/work/113990410; http://hdl.handle.net/10138/344224; 7668e317-ce43-4970-8145-7272f71371fe; 000788073000001

الاتاحة: http://hdl.handle.net/10138/344224

المؤلفون: Whittle, Ella F, Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D, Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M, Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Mitochondria, Neurodevelopmental disease, OGDH, Oxoglutarate dehydrogenase, α-ketoglutarate dehydrogenase deficiency

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10162085/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10162085/

المؤلفون: Ignatius, Erika, Isohanni, Pirjo, Pohjanpelto, Max, Lahermo, Päivi, Ojanen, Simo, Brilhante, Virginia, Palin, Eino, Suomalainen, Anu, Lönnqvist, Tuula, Carroll, Christopher J.

المساهمون: HUS Children and Adolescents, Research Programs Unit, University of Helsinki, Helsinki University Hospital Area, Lastenneurologian yksikkö, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital, Institute for Molecular Medicine Finland, Veterinary Biosciences, HUS Helsinki and Uusimaa Hospital District, Neuroscience Center

مصطلحات موضوعية: SPINOCEREBELLAR-ATAXIA, CEREBELLAR-ATAXIA, ONSET, MUTATIONS, PROTEIN, ASSOCIATION, ATROPHY, DELAY, MODEL, TOOL, Genetics, developmental biology, physiology, Neurosciences, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: This work was funded by the University of Helsinki, Helsinki University Hospital, Arvo and Lea Ylppo Foundation, Foundation for Pediatric Research, Paivikki and Sakari Sohlberg Foundation, Biomedicum Helsinki Foundation and Maire Taponen Foundation.; Ignatius , E , Isohanni , P , Pohjanpelto , M , Lahermo , P , Ojanen , S , Brilhante , V , Palin , E , Suomalainen , A , Lönnqvist , T & Carroll , C J 2020 , ' Genetic background of ataxia in children younger than 5 years in Finland ' , Neurology Genetics , vol. 6 , no. 4 , 444 . https://doi.org/10.1212/NXG.0000000000000444; ORCID: /0000-0003-3339-5742/work/84706575; http://hdl.handle.net/10138/322106; 6897ad59-eeb9-4621-afe7-43a04aa49f8b; 000586531700003

الاتاحة: http://hdl.handle.net/10138/322106

المؤلفون: Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Goran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas

المساهمون: Research Programme for Molecular Neurology, Research Programs Unit, Clinicum, Children's Hospital, Lastenneurologian yksikkö, Anu Wartiovaara / Principal Investigator, HUS Children and Adolescents

مصطلحات موضوعية: Neurosciences, Neurology and psychiatry, Gynaecology and paediatrics, Biomedicine

وصف الملف: application/pdf

Relation: Haack , T B , Ignatius , E , Calvo-Garrido , J , Iuso , A , Isohanni , P , Maffezzini , C , Lönnqvist , T , Suomalainen , A , Gorza , M , Kremer , L S , Graf , E , Hartig , M , Berutti , R , Paucar , M , Svenningsson , P , Stranneheim , H , Brandberg , G , Wedell , A , Kurian , M A , Hayflick , S A , Venco , P , Tiranti , V , Strom , T M , Dichgans , M , Horvath , R , Holinski-Feder , E , Freyer , C , Meitinger , T , Prokisch , H , Senderek , J , Wredenberg , A , Carroll , C J & Klopstock , T 2016 , ' Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ' , American Journal of Human Genetics , vol. 99 , no. 3 , pp. 735-743 . https://doi.org/10.1016/j.ajhg.2016.06.026; http://hdl.handle.net/10138/228036; 5b221cf1-20e3-4c6b-9698-26640977c4cc; 84996806746; 000383114800019

الاتاحة: http://hdl.handle.net/10138/228036

المؤلفون: Ignatius, Erika

المساهمون: University of Helsinki, Faculty of Medicine, Doctoral Program in Clinical Research, Children´s Hospital, Helsinki University Hospital, Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki., Helsingin yliopisto, lääketieteellinen tiedekunta, Kliininen tohtoriohjelma, Helsingfors universitet, medicinska fakulteten, Doktorandprogrammet i klinisk forskning, Németh, Andrea, Lönnqvist, Tuula, Isohanni, Pirjo, Carroll, Christopher

مصطلحات موضوعية: lastenneurologia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1593::28e0b37b5cc049a88a11dfc68b39039b
http://hdl.handle.net/10138/339160

المؤلفون: Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Göran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas

المساهمون: mitoNET, GENOMIT, Juniorverbund in der Systemmedizin “mitOmics”, European Commission 7th Framework Programme, Arvo and Lea Ylppö Foundation, Foundation for Pediatric Research, Helsinki University, Sigrid Jusélius Foundation, Aatos and Jane Erkko Foundation, Academy of Finland, Wellcome Trust Investigator, Medical Research Council (UK), European Research Council, The Swedish Research Council, Stockholm County Council, Swedish Foundation for Strategic Research, Knut & Alice Wallenberg Foundation, The Swedish Brain Foundation, Ragnar Söderberg fellow, Telethon Network of Genetic Biobanks

المصدر: The American Journal of Human Genetics ; volume 99, issue 3, page 735-743 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2016.06.026
https://api.elsevier.com/content/article/PII:S0002929716302300?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929716302300?httpAccept=text/plain

المؤلفون: Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.

المصدر: Genetics in Medicine; February 2023, Vol. 25 Issue: 2