日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Non-polio enterovirus infection and electrophysiological changes in human iPSC-derived neural networks.

非脊髓灰质炎肠道病毒感染和人类iPSC衍生神经网络的电生理变化。

Benavides Feline F W, Na Ayudhya Syriam Sooksawasdi, Pereirinha da Silva Ashley K, Power Mark A, Rijnink Willemijn F, Deguergue Auriane, Meyer Bjoern, de Vrij Femke M S, van Riel Debby, Lanko Kristina, Bauer Lisa

Hao-Fountain syndrome protein USP7 controls neuronal differentiation via BCOR-ncPRC1.1.

Hao-Fountain综合征蛋白USP7通过BCOR-ncPRC1.1控制神经元分化

Wolf van der Meer Joyce, Larue Axelle, van der Knaap Jan A, Chalkley Gillian E, Sijm Ayestha, Beikmohammadi Leila, Kozhevnikova Elena N, van der Vaart Aniek, Tilly Ben C, Bezstarosti Karel, Dekkers Dick H W, Doff Wouter A S, van de Wetering-Tieleman P Jantine, Lanko Kristina, Barakat Tahsin Stefan, Allertz Tim, van Haren Jeffrey, Demmers Jeroen A A, Atlasi Yaser, Verrijzer C Peter

Non-polio enteroviruses compromise the electrophysiology of a human iPSC-derived neural network

非脊髓灰质炎肠道病毒会损害人类诱导多能干细胞衍生神经网络的电生理特性。

Benavides, Feline F W; Ayudhya, Syriam Sooksawasdi Na; Power, Mark A; Rijnink, Willemijn F; Deguergue, Auriane; Meyer, Bjoern; de Vrij, Femke M S; van Riel, Debby; Lanko, Kristina; Bauer, Lisa

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

AMFR功能障碍会导致人类常染色体隐性遗传性痉挛性截瘫,在临床前模型中,他汀类药物治疗有效。

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A; van der Linde, Herma C; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T; Ruijter, George J G; Lütjohann, Dieter; Jacobs, Edwin H; Houlden, Henry; Pagnamenta, Alistair T; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H; van Ham, Tjakko J; Issa, Mahmoud; Zaki, Maha S; Gleeson, Joseph G; Willemsen, Rob; Kaya, Namik; Arold, Stefan T; Maroofian, Reza; Sanderson, Leslie E; Barakat, Tahsin Stefan

Evaluation of Mean Percentage of Full-Length SMN Transcripts as a Molecular Biomarker of Spinal Muscular Atrophy

评估全长SMN转录本平均百分比作为脊髓性肌萎缩症的分子生物标志物

Maretina, Marianna; Egorova, Anna; Lanko, Kristina; Baranov, Vladislav; Kiselev, Anton

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

HOPS复合物亚基VPS41的双等位基因变异会导致小脑共济失调和膜转运异常。

Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kaya, Namik

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

扩展YIF1B相关脑疾病的突变图谱和临床表型

Medico Salsench, Eva; Maroofian, Reza; Deng, Ruizhi; Lanko, Kristina; Nikoncuk, Anita; Pérez, Belén; Sánchez-Lijarcio, Obdulia; Ibáñez-Mico, Salvador; Wojcik, Antonina; Vargas, Marcelo; Abbas Al-Sannaa, Nouriya; Girgis, Marian Y; Silveira, Tainá Regina Damaceno; Bauer, Peter; Schroeder, Audrey; Fong, Chin-To; Begtrup, Amber; Babaei, Meisam; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Doosti, Mohammad; Ahangari, Najmeh; Najarzadeh Torbati, Paria; Ghayoor Karimiani, Ehsan; Murphy, David; Cali, Elisa; Kaya, Ibrahim H; AlMuhaizea, Mohammad; Colak, Dilek; Cardona-Londoño, Kelly J; Arold, Stefan T; Houlden, Henry; Bertoli-Avella, Aida; Kaya, Namik; Barakat, Tahsin Stefan

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

综合多组学整合鉴定出人类大脑发育过程中具有临床意义的差异活性增强子

Yousefi, Soheil; Deng, Ruizhi; Lanko, Kristina; Salsench, Eva Medico; Nikoncuk, Anita; van der Linde, Herma C; Perenthaler, Elena; van Ham, Tjakko J; Mulugeta, Eskeatnaf; Barakat, Tahsin Stefan

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

The non-coding genome in genetic brain disorders: new targets for therapy?

遗传性脑疾病中的非编码基因组:新的治疗靶点?

Medico-Salsench, Eva; Karkala, Faidra; Lanko, Kristina; Barakat, Tahsin Stefan