المؤلفون: Sturm, Gabriel, Karan, Kalpita R, Monzel, Anna S, Santhanam, Balaji, Taivassalo, Tanja, Bris, Céline, Ware, Sarah A, Cross, Marissa, Towheed, Atif, Higgins-Chen, Albert, McManus, Meagan J, Cardenas, Andres, Lin, Jue, Epel, Elissa S, Rahman, Shamima, Vissing, John, Grassi, Bruno, Levine, Morgan, Horvath, Steve, Haller, Ronald G, Lenaers, Guy, Wallace, Douglas C, St-Onge, Marie-Pierre, Tavazoie, Saeed, Procaccio, Vincent, Kaufman, Brett A, Seifert, Erin L, Hirano, Michio, Picard, Martin

المصدر: Communications Biology. 6(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Aging, Clinical Research, Human Genome, Underpinning research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Aetiology, Generic health relevance, Humans, Oxidative Phosphorylation, Longevity, Mitochondrial Diseases, Mitochondria, DNA, Mitochondrial, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2030s8cwTest

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: Mancuso, Michelangelo, Papadopoulou, Maria T., Ng, Yi Shiau, Ardissone, Anna, Bellusci, Marcello, Bertini, Enrico, Di Vito, Lidia, Evangelista, Teresinha, Fons, Carmen, Hikmat, Omar, Horvath, Rita, Klopstock, Thomas, Kornblum, Cornelia, Lamperti, Costanza, Licchetta, Laura, Molnar, Maria Judit, Varhaug, Kristin N., O'Callaghan, Mar, Pressler, Ronit M., Schiff, Manuel, Servidei, Serenella, Szabo, Nora, Gorman, Gráinne S., Cross, J Helen, Rahman, Shamima

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

الإتاحة: https://doi.org/10.1111/ene.16275Test

المؤلفون: Keshavan, Nandaki, Minczuk, Michal, Viscomi, Carlo, Rahman, Shamima

المساهمون: Action Medical Research, Cancer Research UK, Dipartimento di Biologia, Università degli Studi di Padova, Fondazione Telethon, Great Ormond Street Hospital Charity, Lily Foundation, NIHR Great Ormond Street Hospital Biomedical Research Centre

المصدر: Journal of Inherited Metabolic Disease ; volume 47, issue 1, page 145-175 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12699Test

المؤلفون: Chowdhury, Iftekhar Hossain, Rahman, Shamima, Afroze, Yeasmin Jahan, Shovah, Sharmeen Tania

المصدر: Pharmacological Research ; volume 203, page 107129 ; ISSN 1043-6618

مصطلحات موضوعية: Pharmacology

الإتاحة: https://doi.org/10.1016/j.phrs.2024.107129Test
https://api.elsevier.com/content/article/PII:S1043661824000732?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1043661824000732?httpAccept=text/plainTest

المؤلفون: Ferreira, Carlos R, Rahman, Shamima, Keller, Markus, Zschocke, Johannes, ICIMD Advisory Group

المصدر: Journal of inherited metabolic disease. 44(1)

مصطلحات موضوعية: ICIMD Advisory Group, Humans, Metabolism, Inborn Errors, International Classification of Diseases, ICIMD, classification, inherited metabolic disorders, ontology, Genetics, Clinical Research, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/60p0p666Test

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: 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

العلاقة: 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.2022.11.001Test; http://hdl.handle.net/10138/356336Test; ee26e507-83ca-4305-9c21-d7f7cff84990; 000932994700001

الإتاحة: http://hdl.handle.net/10138/356336Test

المؤلفون: Poole, Rebecca L, Badonyi, Mihaly, Cozens, Alison, Foulds, Nicola, Marsh, Joseph A, Rahman, Shamima, Ross, Alison, Schooley, Joanna, Straub, Volker, Quigley, Alan J, FitzPatrick, David, Lampe, Anne

المصدر: European Journal of Medical Genetics , 66 (3) , Article 104696. (2023)

مصطلحات موضوعية: Basal ganglia, Disorder, HK1 protein, Human, Neurological

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10163418/1/1-s2.0-S1769721223000022-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10163418Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10163418/1/1-s2.0-S1769721223000022-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10163418Test/

المؤلفون: McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Pan, Alves, César Augusto Pinheiro Ferreira, Ardissone, Anna, Bai, Renkui, de Barcelos, Isabella Peixoto, Bertini, Enrico, Bluske, Krista, Christodoulou, John, Clause, Amanda R, Copeland, William C, Diaz, George A, Diodato, Daria, Dulik, Matthew C, Enns, Greg, Feigenbaum, Annette, Fratter, Carl, Ghezzi, Daniele, Goldstein, Amy, Gropman, Andrea, Haas, Richard, Karaa, Amel, Koenig, Mary Kay, Monteleone, Berrin, Parikh, Sumit, Duenas, Belen Perez, Rajkumar, Revathi, Saada, Ann, Saneto, Russell P, Sergeant, Kate, Shoffner, John, Smith, Conrad, Stanley, Christine, Thiffault, Isabelle, Thorburn, David, Walker, Melissa, Wallace, Douglas, Wong, Lee-Jun, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

المصدر: Annals of Neurology (2023) (In press).

مصطلحات موضوعية: NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10175738Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10175738Test/