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

Direct Wafer-Scale CVD Graphene Growth under Platinum Thin-Films

在铂薄膜下直接晶圆级CVD石墨烯生长

Hagendoorn, Yelena; Pandraud, Gregory; Vollebregt, Sten; Morana, Bruno; Sarro, Pasqualina M; Steeneken, Peter G

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

核黄素反应性神经病变的临床、病理和功能特征

Manole, Andreea; Jaunmuktane, Zane; Hargreaves, Iain; Ludtmann, Marthe H R; Salpietro, Vincenzo; Bello, Oscar D; Pope, Simon; Pandraud, Amelie; Horga, Alejandro; Scalco, Renata S; Li, Abi; Ashokkumar, Balasubramaniem; Lourenço, Charles M; Heales, Simon; Horvath, Rita; Chinnery, Patrick F; Toro, Camilo; Singleton, Andrew B; Jacques, Thomas S; Abramov, Andrey Y; Muntoni, Francesco; Hanna, Michael G; Reilly, Mary M; Revesz, Tamas; Kullmann, Dimitri M; Jepson, James E C; Houlden, Henry

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

线粒体功能障碍和异常的线粒体逆行轴突运输在突变型Hsp27诱导的夏科-马里-图斯病的发病机制中发挥作用。

Kalmar, Bernadett; Innes, Amy; Wanisch, Klaus; Kolaszynska, Alicia Koyen; Pandraud, Amelie; Kelly, Gavin; Abramov, Andrey Y; Reilly, Mary M; Schiavo, Giampietro; Greensmith, Linda

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

α-突触核蛋白基因座的 6.4 Mb 重复导致额颞叶痴呆和帕金森病:表型-基因型相关性

Eleanna Kara, Aoife P Kiely, Christos Proukakis, Nicola Giffin, Seth Love, Jason Hehir, Khadija Rantell, Amelie Pandraud, Dena G Hernandez, Elizabeth Nacheva, Alan M Pittman, Mike A Nalls, Andrew B Singleton, Tamas Revesz, Kailash P Bhatia, Niall Quinn, John Hardy, Janice L Holton, Henry Houlden1

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome

马德拉斯运动神经元病(MMND)与导致布朗-维亚莱托-范莱尔综合征的核黄素转运蛋白基因缺陷不同。

Nalini, Atchayaram; Pandraud, Amelie; Mok, Kin; Houlden, Henry

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

外显子组测序揭示核黄素转运蛋白突变是导致运动神经元疾病的原因

Janel O Johnson, J Raphael Gibbs, Andre Megarbane, J Andoni Urtizberea, Dena G Hernandez, A Reghan Foley, Sampath Arepalli, Amelie Pandraud, Javier Simón-Sánchez, Peter Clayton, Mary M Reilly, Francesco Muntoni, Yevgeniya Abramzon, Henry Houlden, Andrew B Singleton