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

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study

帕金森病变异检测和披露:PD GENEration,一项北美研究

Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S Marder, Ignacio F Mata, Niccolò E Mencacci, Martha A Nance, Michael A Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H Fernandez, Irene Litvan, Kelly E Lyons, Holly A Shill

Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neurons

帕金森病相关的帕金基因突变会破坏人类多巴胺能神经元中突触小泡的回收利用。

Pingping Song ,Wesley Peng ,Veronique Sauve ,Rayan Fakih ,Zhong Xie ,Daniel Ysselstein ,Talia Krainc ,Yvette C Wong ,Niccolò E Mencacci ,Jeffrey N Savas ,D James Surmeier ,Kalle Gehring ,Dimitri Krainc

Variants in ATP5F1B are associated with dominantly inherited dystonia

ATP5F1B 变异与显性遗传性肌张力障碍有关

Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, Michael Zech, Ignacio J Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe I Bustos, Luigi M Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J Lubbe, Barbara Garava

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

TSPOAP1 中的双等位基因变异(编码活性区蛋白 RIMBP1)可导致常染色体隐性肌张力障碍

Niccolò E Mencacci, Marisa M Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquin Campos, Gabriela Pino, Paulina Gonzalez-Latapi, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Pittman, Javier Simon-Sanchez, Gemma L Carvill, Bettina Balint, Sarah Wiethoff, Thomas T Warner, Apostolos

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

PDE10A 的新生突变导致儿童期舞蹈病,伴有双侧纹状体病变

Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R'Bibo, David S Lynch, Bettina Balint, Michèl A A P Willemsen, Matthew E Adams, Sarah Wiethoff, Kazunori Suzuki, Ceri H Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F Lucy Raymond, Miryam Carecchio, Giova