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Abnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndrome 德雷韦综合征人诱导多能干细胞模型中神经网络功能活动的异常 Mzezewa, Ropafadzo; Hyvarinen, Tanja; Kulta, Oskari; Vinogradov, Andrey; Pesu, Emma; Isosaari, Lotta; Vuolanto, Valtteri; Kapucu, Fikret Emre; Schuster, Jens; Dahl, Niklas; Narkilahti, Susanna 分享 收藏
KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation KRIT1杂合子突变足以在患者来源的脑海绵状血管瘤iPSC模型中诱导病理表型。 Arce, Maximiliano; Erzar, Iza; Yang, Fan; Senthilkumar, Neeharika; Onyeogaziri, Favour C.; Ronchi, Dario; Ahlstrand, Frida C.; Noll, Nora; Lugano, Roberta; Richards, Mark; Scola, Elisa; Corada, Monica; Lazzaroni, Francesca; Meggiolaro, Linda; Schuster, Jens; Dahl, Niklas; Niemela, Mika; Jahromi, Behnam Rezai; Dimberg, Anna; Lanfraconi, Silvia; Latini, Roberto; Magnusson, Peetra U. 分享 收藏
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment Davis, Kasey N.; Qu, Ping-Ping; Ma, Shining; Lin, Ling; Plastini, Melanie; Dahl, Niklas; Plazzi, Giuseppe; Pizza, Fabio; O'Hara, Ruth; Wong, Wing Hung; Hallmayer, Joachim; Mignot, Emmanuel; Zhang, Xianglong; Urban, Alexander E. 分享 收藏
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ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function Schuster, Jens; Klar, Joakim; Khalfallah, Ayda; Laan, Loora; Hoeber, Jan; Fatima, Ambrin; Sequeira, Velin Marita; Jin, Zhe; Korol, Sergiy V.; Huss, Mikael; Nordgren, Ann; Anderlid, Britt Marie; Gallant, Caroline; Birnir, Bryndis; Dahl, Niklas 分享 收藏
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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (vol 108, pg 739, 2021) Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas 分享 收藏
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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas 分享 收藏
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah, I; Bennett, James T.; Sahin, Mustafa 分享 收藏
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations Niemela, Valter; Salih, Ammar; Solea, Daniela; Lindvall, Bjoern; Weinberg, Jan; Miltenberger, Gabriel; Granberg, Tobias; Tzovla, Aikaterini; Nordin, Love; Danfors, Torsten; Savitcheva, Irina; Dahl, Niklas; Paucar, Martin 分享 收藏
Aniridia with PAX6 mutations and narcolepsy Berntsson, Shala Ghaderi; Kristoffersson, Anna; Daniilidou, Makrina; Dahl, Niklas; Ekstrom, Curt; Semnic, Robert; Markstrom, Agneta; Niemela, Valter; Partinen, Markku; Hallbook, Finn; Landtblom, Anne-Marie 分享 收藏
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan; Shahsavani, Mansoureh; Kele, Malin; Fatima, Ambrin; Zakaria, Muhammad; Anneren, Goran; Falk, Anna; Schuster, Jens; Dahl, Niklas 分享 收藏
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment Schuster, Jens; Laan, Loora; Klar, Joakim; Jin, Zhe; Huss, Mikael; Korol, Sergiy; Noraddin, Feria Hikmet; Sobol, Maria; Birnir, Bryndis; Dahl, Niklas 分享 收藏
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality Lam, Matti; Moslem, Mohsen; Bryois, Julien; Pronk, Robin J.; Uhlin, Elias; Ellstrom, Ivar Dehnisch; Laan, Loora; Olive, Jessica; Morse, Rebecca; Ronnholm, Harriet; Louhivuori, Lauri; Korol, Sergiy, V; Dahl, Niklas; Uhlen, Per; Anderlid, Britt-Marie; Kele, Malin; Sullivan, Patrick F.; Falk, Anna 分享 收藏
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikstrom, Johan; Abdullah, Uzma; Ali, Zafar; Akram, Talia; Tariq, Muhammad; Ahmad, Habib; Schuster, Jens; Baig, Shahid M.; Dahl, Niklas 分享 收藏
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