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

Metabolic remodeling in hiPSC-derived myofibers carrying the m.3243A>G mutation.

携带 m.3243A>G 突变的 hiPSC 衍生肌纤维的代谢重塑

Valdebenito Gabriel E, Chacko Anitta R, Chung Chih-Yao, Sheshadri Preethi, Chi Haoyu, O'Callaghan Benjamin, Madej Monika J, Houlden Henry, Rouse Hannah, Morales Valle, Bianchi Katiuscia, Tedesco Francesco Saverio, Pitceathly Robert D S, Duchen Michael R

Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system

帕金森病和内溶酶体系统功能障碍的常见遗传风险

Bhore, Noopur; Bogacki, Erin C; O'Callaghan, Benjamin; Plun-Favreau, Helene; Lewis, Patrick A; Herbst, Susanne

Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction

小鼠Dyt1-Tor1a肌张力障碍的病理生理机制是由脊髓神经回路功能障碍介导的。

Pocratsky, Amanda M; Nascimento, Filipe; Özyurt, M Görkem; White, Ian J; Sullivan, Roisin; O'Callaghan, Benjamin J; Smith, Calvin C; Surana, Sunaina; Beato, Marco; Brownstone, Robert M

The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease

这种非特异性致死复合物调控与帕金森病有遗传关联的基因和通路。

Hicks, Amy R; Reynolds, Regina H; O'Callaghan, Benjamin; García-Ruiz, Sonia; Gil-Martínez, Ana Luisa; Botía, Juan; Plun-Favreau, Hélène; Ryten, Mina

PINK1: From Parkinson's disease to mitophagy and back again

PINK1:从帕金森病到线粒体自噬再回到帕金森病

O'Callaghan, Benjamin; Hardy, John; Plun-Favreau, Helene

ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.

ANGPTL6 基因变异是家族性颅内动脉瘤的根本原因

Hostettler Isabel C, O'Callaghan Benjamin, Bugiardini Enrico, O'Connor Emer, Vandrovcova Jana, Davagnanam Indran, Alg Varinder, Bonner Stephen, Walsh Daniel, Bulters Diederik, Kitchen Neil, Brown Martin M, Grieve Joan, Werring David J, Houlden Henry

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

JAM2双等位基因变异导致早发性隐性原发性家族性脑钙化

Schottlaender, Lucia V; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou-Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P M; Livingston, John H; Kalmar, Bernardett; Swayne, Orlando; Hotton, Gary; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard-Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J; Brandner, Sebastian; Aurrand-Lions, Michel; Houlden, Henry

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

一名患有低钾性周期性麻痹和中枢神经系统症状的患者被发现存在一种新的ATP1A2基因突变

Sampedro Castañeda, Marisol; Zanoteli, Edmar; Scalco, Renata S; Scaramuzzi, Vinicius; Marques Caldas, Vitor; Conti Reed, Umbertina; da Silva, Andre Macedo Serafim; O'Callaghan, Benjamin; Phadke, Rahul; Bugiardini, Enrico; Sud, Richa; McCall, Samuel; Hanna, Michael G; Poulsen, Hanne; Männikkö, Roope; Matthews, Emma