المؤلفون: Zhang, Ai, Sokolova, Irina, Domissy, Alain, Davis, Joshua, Rao, Lee, Utami, Kagistia Hana, Wang, Yanling, Hagerman, Randi J, Pouladi, Mahmoud A, Sanna, Pietro, Boland, Michael J, Loring, Jeanne F

المصدر: Stem Cells Translational Medicine. 11(6)

مصطلحات موضوعية: Mental Health, Stem Cell Research, Regenerative Medicine, Stem Cell Research - Embryonic - Human, Stem Cell Research - Induced Pluripotent Stem Cell, Rare Diseases, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Nonembryonic - Human, Fragile X Syndrome, Stem Cell Research - Nonembryonic - Non-Human, Genetics, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Autism Spectrum Disorder, Epigenesis, Genetic, Fragile X Mental Retardation Protein, Humans, Neurogenesis, Pluripotent Stem Cells, fragile X syndrome, autism, GABAergic neurons, neurogenesis, human iPSCs, hESCs, Biochemistry and Cell Biology, Medical Biotechnology, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3j34m6k1Test

المؤلفون: Duque Villegas, Luisana Carolina, Chandrasekaran, Abinaya, Flintholm Andersen, Sophie Amalie, Nørremølle, Anne, Schmid, Benjamin, Pouladi, Mahmoud A, Freude, Kristine

المصدر: Duque Villegas , L C , Chandrasekaran , A , Flintholm Andersen , S A , Nørremølle , A , Schmid , B , Pouladi , M A & Freude , K 2024 , ' Generation of three isogenic gene-edited Huntington’s disease human embryonic stem cell lines with DOX-inducible NGN2 expression cassette in the AAVS1 safe locus ' , Stem Cell Research , vol. 77 , 103408 . https://doi.org/10.1016/j.scr.2024.103408Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.scr.2024.103408Test
https://curis.ku.dk/portal/da/publications/generation-of-three-isogenic-geneedited-huntingtons-disease-human-embryonic-stem-cell-lines-with-doxinducible-ngn2-expression-cassette-in-the-aavs1-safe-locusTest(72489031-eaa0-403f-b6bc-3809f9fce604).html
https://curis.ku.dk/ws/files/388590670/1_s2.0_S1873506124001065_main.pdfTest

المؤلفون: Gjervan, Sophia C., Ozgoren, Oguz K., Gow, Alexander, Stockler-Ipsiroglu, Sylvia, Pouladi, Mahmoud A.

المساهمون: BC Children's Hospital, Michael Smith Health Research BC

المصدر: Frontiers in Cellular Neuroscience ; volume 17 ; ISSN 1662-5102

مصطلحات موضوعية: Cellular and Molecular Neuroscience

الإتاحة: https://doi.org/10.3389/fncel.2023.1344090Test

المؤلفون: Villegas, Luisana Duque, Chandrasekaran, Abinaya, Andersen, Sofie Amalie Flintholm, Nørremølle, Anne, Schmid, Benjamin, Pouladi, Mahmoud A., Freude, Kristine

المساهمون: University of British Columbia, Københavns Universitet

المصدر: Stem Cell Research ; volume 77, page 103408 ; ISSN 1873-5061

الإتاحة: https://doi.org/10.1016/j.scr.2024.103408Test
https://api.elsevier.com/content/article/PII:S1873506124001065?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506124001065?httpAccept=text/plainTest

المؤلفون: Peteri, Ulla Kaisa, Pitkonen, Juho, de Toma, Ilario, Nieminen, Otso, Utami, Kagistia Hana, Strandin, Tomas M., Corcoran, Padraic, Roybon, Laurent, Vaheri, Antti, Ethell, Iryna, Casarotto, Plinio, Pouladi, Mahmoud A., Castrén, Maija L.

المصدر: GLIA MultiPark: Multidisciplinary research focused on Parkinson´s disease StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 69(12):2947-2962

مصطلحات موضوعية: astrocyte, fragile X syndrome, neuronal plasticity, urokinase plasminogen activator, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences

الوصول الحر: https://lup.lub.lu.se/record/1d55cb01-cd36-4af2-a642-9f91319d8497Test
http://dx.doi.org/10.1002/glia.24080Test

المؤلفون: Gabery, Sanaz, Kwa, Jing Eugene, Cheong, Rachel Y., Baldo, Barbara, Ferrari Bardile, Costanza, Tan, Brendan, McLean, Catriona, Georgiou-Karistianis, Nellie, Poudel, Govinda R., Halliday, Glenda, Pouladi, Mahmoud A., Petersén, Åsa

المصدر: Acta Neuropathologica MultiPark: Multidisciplinary research focused on Parkinson´s disease. 142(5):791-806

مصطلحات موضوعية: Fornix, Huntingtin, MRI, Oligodendrocyte, RNA sequencing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences

الوصول الحر: https://lup.lub.lu.se/record/b10b758f-af5a-4e62-915f-69c7cb3ad76fTest
http://dx.doi.org/10.1007/s00401-021-02362-8Test

المؤلفون: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: Organoids, Animals, Zebrafish, Humans, Epilepsy, Syndrome, Oxidoreductases, Pedigree, Kinetics, Genes, Recessive, Alleles, Adolescent, Child, Child, Preschool, Infant, Female, Male, Protein Domains, Loss of Function Mutation, Preschool, Genes, Recessive

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5f80k46tTest

المؤلفون: Tano, Vincent, Utami, Kagistia Hana, Yusof, Nur Amirah Binte Mohammad, Bégin, Jocelyn, Tan, Willy Wei Li, Pouladi, Mahmoud A., Langley, Sarah R.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/161840/1/PIIS2352396423002852.pdfTest; Tano, Vincent, Utami, Kagistia Hana, Yusof, Nur Amirah Binte Mohammad, Bégin, Jocelyn, Tan, Willy Wei Li, Pouladi, Mahmoud A. and Langley, Sarah R. https://orca.cardiff.ac.uk/view/cardiffauthors/A2763586Y.htmlTest orcid:0000-0003-4419-476X orcid:0000-0003-4419-476X 2023. Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's disease. EBioMedicine 94 , 104720. 10.1016/j.ebiom.2023.104720 https://doi.org/10.1016/j.ebiom.2023.104720Test file https://orca.cardiff.ac.uk/id/eprint/161840/1/PIIS2352396423002852.pdfTest

الإتاحة: https://doi.org/10.1016/j.ebiom.2023.104720Test
https://orca.cardiff.ac.uk/id/eprint/161840Test/
https://orca.cardiff.ac.uk/id/eprint/161840/1/PIIS2352396423002852.pdfTest

المؤلفون: Ozgoren, Oguz K., Sequiera, Glen Lester, Ferrari Bardile, Costanza, Gjervan, Sophia C., Salman, Areesha, Lehman, Anna, Turvey, Stuart E., Ross, Colin J.D., Stockler, Sylvia, Pouladi, Mahmoud A.

المساهمون: Hereditary Disease Foundation, BC Children's Hospital, Canadian Institutes of Health Research, Michael Smith Health Research BC

المصدر: Stem Cell Research ; volume 71, page 103174 ; ISSN 1873-5061

مصطلحات موضوعية: Cell Biology, Developmental Biology, General Medicine

الإتاحة: https://doi.org/10.1016/j.scr.2023.103174Test
https://api.elsevier.com/content/article/PII:S1873506123001605?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506123001605?httpAccept=text/plainTest

المؤلفون: Oh, Sher Li, Ziaei, Amin, Tan, Liang Juin, Utami, Kagistia Hana, Pouladi, Mahmoud A., Langley, Sarah Raye

المساهمون: Interdisciplinary Graduate School (IGS), Lee Kong Chian School of Medicine (LKCMedicine), 2024 Myelin Gordon Research Conference (GRC), Translational Laboratory in Genetic Medicine, A*STAR, University of British Columbia, Cardiff University

مصطلحات موضوعية: Medicine, Health and Life Sciences, Neurological disorders, Ermin deficiency

وصف الملف: application/pdf

العلاقة: Oh, S. L., Ziaei, A., Tan, L. J., Utami, K. H., Pouladi, M. A. & Langley, S. R. (2024). Understanding early molecular mechanisms of abnormal myelination in neurological conditions by characterising Ermin deficiency. 2024 Myelin Gordon Research Conference (GRC).; https://hdl.handle.net/10356/173229Test; https://www.grc.org/myelin-conference/2024Test/

الإتاحة: https://hdl.handle.net/10356/173229Test
https://www.grc.org/myelin-conference/2024Test/