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N

Niklas Dahl

Department of Immunology
H指数:62
被引数:1.5万

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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。

CELL REPORTS
IF6.9
2025-05-010
PRE
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.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (vol 108, pg 739, 2021)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-03-010
OAAI
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
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-04-0116
OAAI
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
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
BRAIN
IF11.7
2020-09-2652
OAAI
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
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
EXPERIMENTAL CELL RESEARCH
IF3.5
2019-10-0142
OAAI
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

研究方向

暂未获取到该数据
J
Joakim Klar
H 指数:32论文数:131被引数:4,246
J
Jens Schuster
H 指数:22论文数:86被引数:1,610
S
Shahid Mahmood Baig
H 指数:36论文数:170被引数:4,797
A
Ambrin Fatima
H 指数:13论文数:65被引数:714
B
Birgit Carlsson
H 指数:17论文数:42被引数:1,769
A
Adam Ameur
H 指数:42论文数:190被引数:1.1万
D
Dmitri Tentler
H 指数:20论文数:39被引数:2,786
G
Göran Annerén
H 指数:47论文数:257被引数:8,342
J
Jean‐Louis Mandel
H 指数:105论文数:527被引数:4.5万
M
Muhammad Tariq
H 指数:22论文数:157被引数:1,876