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

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

少突胶质细胞沉默元件是层粘蛋白B1结构变异致病作用的基础。

Nmezi, Bruce; Rodriguez Bey, Guillermo; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F; Sousa, Sérgio B; Palavra, Filipe; Toro, Camilo; Pinto E Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S; Park, Yungki; Bernard, Geneviève; Raininko, Raili; Zhou, Jian; Hainer, Sarah J; Padiath, Quasar S

A high throughput, high content screen for non-toxic small molecules that reduce levels of the nuclear lamina protein, Lamin B1

一种高通量、高内涵的筛选方法,用于筛选能够降低核纤层蛋白 Lamin B1 水平的无毒小分子。

Laura L Vollmer ,Fang Liu ,Bruce Nmezi ,Guillermo Rodriguez Bey ,Nathan Herdman ,Tong Ying Shun ,Albert Gough ,Ruiting Liu ,Peter Wipf ,Timothy R Lezon ,Quasar S Padiath ,Andreas Vogt

Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy

LMNB1相关常染色体显性遗传性脑白质营养不良的诊断、治疗和监测临床实践指南

Dhamija, Radhika; Tobin, W Oliver; Cortelli, Pietro; Padiath, Quasar; Muthusamy, Karthik; Singh Sekhon, Ujjal Didar; Singh, Bishen Jeet; Harris, Dan; Billings, Heather; Mamillo, Keti; Appleberry, Holly; Giorgio, Elisa; Ratti, Stefano; Fogel, Brent L; Gavrilova, Ralitza; Raininko, Raili; Cousin, Margot A

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

双等位基因 EPB41L3 变异会导致一种发育障碍,伴有癫痫发作和髓鞘形成缺陷

Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju

Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models

了解罕见病常染色体显性遗传性脑白质营养不良:实验模型中发现的形态功能改变的最新综述

Neri, Irene; Ramazzotti, Giulia; Mongiorgi, Sara; Rusciano, Isabella; Bugiani, Marianna; Conti, Luciano; Cousin, Margot; Giorgio, Elisa; Padiath, Quasar S; Vaula, Giovanna; Cortelli, Pietro; Manzoli, Lucia; Ratti, Stefano

Enhanced differentiation of the mouse oli-neu oligodendroglial cell line using optimized culture conditions

利用优化的培养条件增强小鼠 oli-neu 少突胶质细胞系的分化

Guillermo Rodriguez Bey, Quasar Saleem Padiath

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy

锌转运蛋白TMEM163的变异会导致髓鞘形成不足的脑白质营养不良

do Rosario, Michelle C; Bey, Guillermo Rodriguez; Nmezi, Bruce; Liu, Fang; Oranburg, Talia; Cohen, Ana S A; Coffman, Keith A; Brown, Maya R; Kiselyov, Kirill; Waisfisz, Quinten; Flohil, Myrthe T; Siddiqui, Shahyan; Rosenfeld, Jill A; Iglesias, Alejandro; Girisha, Katta Mohan; Wolf, Nicole I; Padiath, Quasar Saleem; Shukla, Anju

scMAPA: Identification of cell-type-specific alternative polyadenylation in complex tissues

scMAPA:复杂组织中细胞类型特异性选择性多聚腺苷酸化的鉴定

Bai, Yulong; Qin, Yidi; Fan, Zhenjiang; Morrison, Robert M; Nam, KyongNyon; Zarour, Hassane M; Koldamova, Radosveta; Padiath, Quasar Saleem; Kim, Soyeon; Park, Hyun Jung

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family

印度家族中由LMNB1基因重复介导的常染色体显性遗传成人发病型脑白质营养不良症

Bijarnia-Mahay, Sunita; Roy, Gaurav; Padiath, Quasar S; Saxena, Renu; Verma, Ishwar Chander

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

ATP1A3相关综合征的心脏表型:一项多中心队列研究

Balestrini, Simona; Mikati, Mohamad A; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samões, Raquel; Brankovic, Vesna; Padiath, Quasar S; Potic, Ana; Pilch, Jacek; Vezyroglou, Aikaterini; Bye, Ann M E; Davis, Andrew M; Ryan, Monique M; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Inês; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S; Pitt, Geoffrey S; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J Helen; Vavassori, Rosaria; Kaski, Juan P; Sisodiya, Sanjay M