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

Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy

检测从癫痫患者手术植入的深部电极中获得的纯化脑DNA中的体细胞变异

Rumika Mascarenhas ,Daria Merrikh ,Maryam Khanbabaei ,Navprabhjot Kaur ,Navid Ghaderi ,Tatiana Maroilley ,Yiping Liu ,Tyler Soule ,Juan Pablo Appendino ,Julia Jacobs ,Samuel Wiebe ,Gerald Pfeffer ,Maja Tarailo-Graovac ,Karl Martin Klein

Application of a comprehensive approach to pathogen screening in a stowaway rat on an airplane

对飞机上偷渡老鼠进行病原体筛查的综合方法

Heuser, Elisa; Ebinger, Arnt; Holtfreter, Silva; Wolf, Silver A; Zautner, Andreas E; Ryll, René; Drewes, Stephan; Matzkeit, Beate; Hoffmann, Bernd; Höper, Dirk; Keller, Markus; Groseth, Allison; Wilharm, Gottfried; Mrochen, Daniel M; Obiegala, Anna; Doss, Frank; Mehl, Calvin; Eisenberg, Tobias; Niendorf, Sandra; Böttcher, Sindy; Karger, Axel; Schröder, Charlotte; Ehrke-Schulz, Eric; Schmidt, Katja; Beer, Martin; Groschup, Martin H; Semmler, Torsten; Heckel, Gerald; Pfeffer, Martin; Wylezich, Claudia; Ulrich, Rainer G

Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation

整合应激反应激酶的药理激活可抑制病理性线粒体碎裂

Kelsey R Baron, Samantha Oviedo, Sophia Krasny, Mashiat Zaman, Rama Aldakhlallah, Prakhyat Mathur, Gerald Pfeffer, Michael J Bollong, Timothy Shutt, Danielle A Grotjahn, R Luke Wiseman

A protocol for single nucleus RNA-seq from frozen skeletal muscle

冷冻骨骼肌单核 RNA 测序方案

Tyler Gb Soule, Carly S Pontifex, Nicole Rosin, Matthew M Joel, Sukyoung Lee, Minh Dang Nguyen, Sameer Chhibber, Gerald Pfeffer

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

患有共济失调、视神经萎缩和神经性听力损失的患者中 MFN2 的 HR1 结构域中新变体的表征

Govinda Sharma, Mashiat Zaman, Rasha Sabouny, Matthew Joel, Kristina Martens, Davide Martino, A P Jason de Koning, Gerald Pfeffer, Timothy E Shutt

A new automated tool to quantify nucleoid distribution within mitochondrial networks

一种量化线粒体网络内核苷分布的新型自动化工具

Hema Saranya Ilamathi #, Mathieu Ouellet #, Rasha Sabouny, Justine Desrochers-Goyette, Matthew A Lines, Gerald Pfeffer, Timothy E Shutt, Marc Germain

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types

病例报告:骨髓移植后出现钙蛋白酶病,并研究不同组织类型中供体遗传成分

Kristina Martens ,Jamie Leckie ,Daniel Fok ,Robyn A Wells ,Sameer Chhibber ,Gerald Pfeffer

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

MYH14 中的 R941L 突变会破坏线粒体裂变并与周围神经病变相关

Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi; Care4Rare Canada Consortium; Oksana Suchowersky, Marc Germain, Paul E Mains, Jillian S Parboosingh, Gerald Pfeffer, A Micheil Innes, Timothy E

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

伴有 SQSTM1 和 TIA1 变异的肌病:临床和病理特征

Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E Hamilton, Elie Naddaf, Eric Wieben, Ross A Aleff, Kristina Martens, Angela Gruber, Andrew G Engel, Gerald Pfeffer, Margherita Milone

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

SPG7 基因突变通过线粒体 DNA 维护紊乱导致慢性进行性眼外肌麻痹

Gerald Pfeffer, Gráinne S Gorman, Helen Griffin, Marzena Kurzawa-Akanbi, Emma L Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L Murphy, Charlotte L Alston, Angela Pyle, Jon Coxhead, Brendan Payne, George H Gorrie, Cheryl Longman, Marios Hadjivassiliou, John McConville, David Dick, Ibrahim Im