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

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

一个家族中出现贝赫尔综合征和肥厚型心肌病,该家族存在一种新的UCHL1缺失

McMacken, Grace; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F; Laurie, Steve; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita

Development of Antibiotics That Dysregulate the Neisserial ClpP Protease

开发能扰乱奈瑟菌ClpP蛋白酶活性的抗生素

Binepal, Gursonika; Mabanglo, Mark F; Goodreid, Jordan D; Leung, Elisa; Barghash, Marim M; Wong, Keith S; Lin, Funing; Cossette, Michele; Bansagi, Jazmin; Song, Boxi; Balasco Serrão, Vitor Hugo; Pai, Emil F; Batey, Robert A; Gray-Owen, Scott D; Houry, Walid A

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

更正:线粒体氧二羧酸载体缺乏与线粒体DNA耗竭和脊髓性肌萎缩症样疾病相关。

Boczonadi, V; King, M S; Smith, A C; Olahova, M; Bansagi, B; Roos, A; Eyassu, F; Borchers, C; Ramesh, V; Lochmüller, H; Polvikoski, T; Whittaker, R G; Pyle, A; Griffin, H; Taylor, R W; Chinnery, P F; Robinson, A J; Kunji, E R S; Horvath, R

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

与新生 PTEN 突变相关的多灶性脱髓鞘运动神经病和错构瘤综合征

Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R; O'Sullivan, Julia; Jennings, Matthew J; Whittaker, Roger G; Müller, Juliane S; Duff, Jennifer; Griffin, Helen; Miller, James A L; Gorman, Grainne S; Lochmüller, Hanns; Chinnery, Patrick F; Roos, Andreas; Swan, Laura E; Horvath, Rita

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

线粒体氧二羧酸载体缺乏与线粒体DNA耗竭和脊髓性肌萎缩症样疾病有关。

Boczonadi, Veronika; King, Martin S; Smith, Anthony C; Olahova, Monika; Bansagi, Boglarka; Roos, Andreas; Eyassu, Filmon; Borchers, Christoph; Ramesh, Venkateswaran; Lochmüller, Hanns; Polvikoski, Tuomo; Whittaker, Roger G; Pyle, Angela; Griffin, Helen; Taylor, Robert W; Chinnery, Patrick F; Robinson, Alan J; Kunji, Edmund R S; Horvath, Rita

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

甘氨酰-tRNA合成酶突变会损害神经元的线粒体代谢

Veronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, Helen Griffin, Andreas Roos, Marina Bartsakoulia, Boglarka Bansagi, Giulia Ricci, Fanni Palinkas, René P Zahedi, Francesco Bruni, Brian Kaspar, Hanns Lochmüller, Kym M Boycott, Juliane S Müller, Rita Horvath

Phenotypic convergence of Menkes and Wilson disease

Menkes病和Wilson病的表型趋同

Bansagi, Boglarka; Lewis-Smith, David; Pal, Endre; Duff, Jennifer; Griffin, Helen; Pyle, Angela; Müller, Juliane S; Rudas, Gabor; Aranyi, Zsuzsanna; Lochmüller, Hanns; Chinnery, Patrick F; Horvath, Rita

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

SYT2 基因突变导致可治疗的神经肌肉综合征的电生理特征

Whittaker, Roger G; Herrmann, David N; Bansagi, Boglarka; Hasan, Bashar Awwad Shiekh; Lofra, Robert Muni; Logigian, Eric L; Sowden, Janet E; Almodovar, Jorge L; Littleton, J Troy; Zuchner, Stephan; Horvath, Rita; Lochmüller, Hanns

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

突触结合蛋白2基因突变导致常染色体显性遗传的Lambert-Eaton肌无力综合征和非进行性运动神经病

Stittrich, Anna-Barbara; Lehman, Anna; Bodian, Dale L; Ashworth, Justin; Zong, Zheyuan; Li, Hong; Lam, Patricia; Khromykh, Alina; Iyer, Ramaswamy K; Vockley, Joseph G; Baveja, Rajiv; Silva, Ermelinda Santos; Dixon, Joanne; Leon, Eyby L; Solomon, Benjamin D; Glusman, Gustavo; Niederhuber, John E; Roach, Jared C; Patel, Millan S; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Herrmann, David N; Horvath, Rita; Sowden, Janet E; Gonzalez, Michael; Sanchez-Mejias, Avencia; Guan, Zhuo; Whittaker, Roger G; Almodovar, Jorge L; Lane, Maria; Bansagi, Boglarka; Pyle, Angela; Boczonadi, Veronika; Lochmüller, Hanns; Griffin, Helen; Chinnery, Patrick F; Lloyd, Thomas E; Littleton, J Troy; Zuchner, Stephan

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

突触结合蛋白2基因突变会导致常染色体显性遗传的兰伯特-伊顿肌无力综合征和非进行性运动神经病。

Herrmann, David N; Horvath, Rita; Sowden, Janet E; Gonzalez, Michael; Sanchez-Mejias, Avencia; Guan, Zhuo; Whittaker, Roger G; Almodovar, Jorge L; Lane, Maria; Bansagi, Boglarka; Pyle, Angela; Boczonadi, Veronika; Lochmüller, Hanns; Griffin, Helen; Chinnery, Patrick F; Lloyd, Thomas E; Littleton, J Troy; Zuchner, Stephan