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

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱:剪接位点变异的重要性

Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E; Tripolszki, Kornelia; Marcé-Grau, Anna; Cazurro-Gutiérrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-Ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S; Silveira, Tainá Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivényi, Péter; Salamon, András; Baltaci, Volkan; Subasioglu, Asli; Prada-Arismendy, Jeanette; Čuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinkšel, Mateja; Maver, Aleš; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-Dueñas, Belén; Bertoli-Avella, Aida M

ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes

在患有神经发育障碍表型的个体中发现的UBA7基因变异会破坏ISGylation。

Bandi, Venkateshwarlu; Venema, Myrrhe; Wallace, Iona; Mol, Merel O; Nikoncuk, Anita; Schot, Rachel; van Slegtenhorst, Marjon; Bijlsma, Emilia K; Khan, Amjad; White, Susan M; Rius, Rocio; Delatycki, Martin B; Narayanan, Vinodh; Swatek, Kirby N; Barakat, Tahsin Stefan; Bustos, Francisco

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

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

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

脑内 UGP2 缺失会导致严重的癫痫性脑病,强调必需基因的双等位基因异构体特异性起始缺失突变可导致遗传疾病

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M Berdowski, Maysoon Alsagob, Ivan Capo, Herma C van der Linde, Paul van den Berg, Edwin H Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F J van IJcken, Walter G de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

BICRA 是 SWI/SNF 复合物的成员之一,与人类和模型生物中的 BAF 紊乱相关表型有关

Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, Nazar Mashtalir, Jennifer B Phillips, Alfredo M Valencia, Berrak Ugur, Jeremy Wegner, Tiana M Scott, Brett Bostwick; Undiagnosed Diseases Network; David R Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice