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

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics

快速蛋白质组学证实MRPS22相关线粒体疾病的产前表现

Semcesen, Liana N; Ball, Megan; Hock, Daniella H; Kaye, Juliet; Woods, Aimee; De Jong, Lucas; Christodoulou, John; Thorburn, David R; Compton, Alison G; Stroud, David A; Liebelt, Jan

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

显性负性ATP5F1A变异体破坏氧化磷酸化,导致神经系统疾病。

Sara M Fielder ,Marisa W Friederich ,Daniella H Hock ,Jessie R Zhang ,Liana M Valin ,Jill A Rosenfeld ,Kevin T A Booth ,Natasha J Brown ,Rocio Rius ,Tanavi Sharma ,Liana N Semcesen ,Kim C Worley ,Lindsay C Burrage ,Kayla Treat ,Tara Samson ,Sarah Govert ,Sara DaCunha ,Weimin Yuan ,Jian Chen ,Jacob Lesinski ,Hieu Hoang ,Stephanie A Morrison ,Farah A Ladha ,Roxanne A Van Hove ,Cole R Michel ,Richard Reisdorph ,Eric Tycksen ,Dustin Baldridge ,Gary A Silverman ,Claudia Soler-Alfonso ,Erin Conboy ,Francesco Vetrini ,Lisa Emrick ,William J Craigen ,David A Stroud ,Johan L K Van Hove ,Tim Schedl ,Stephen C Pak

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

严重的 NAD(P)HX 脱水酶 (NAXD) 神经代谢综合征可能在成年期轻微头部外伤后出现。

Van Bergen, Nicole J; Gunanayagam, Karen; Bournazos, Adam M; Walvekar, Adhish S; Warmoes, Marc O; Semcesen, Liana N; Lunke, Sebastian; Bommireddipalli, Shobhana; Sikora, Tim; Patraskaki, Myrto; Jones, Dean L; Garza, Denisse; Sebire, Dale; Gooley, Samuel; McLean, Catriona A; Naidoo, Parm; Rajasekaran, Mugil; Stroud, David A; Linster, Carole L; Wallis, Mathew; Cooper, Sandra T; Christodoulou, John

Investigating water movements around a shallow shipwreck in Big Tub Harbour of Lake Huron: Implications for managing and preserving underwater shipwrecks

对休伦湖大桶港浅水沉船周围水流运动的研究:对水下沉船管理和保护的启示

Flood, Bryan; Girihagama, Lakshika; Wells, Mathew G; Valipour, Reza; Semcesen, Patricia; Parker, Scott

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

严重神经退行性疾病患者细胞中内含子 TIMMDC1 变异的寡核苷酸校正

Raman Kumar, Mark A Corbett, Nicholas J C Smith, Daniella H Hock, Zoya Kikhtyak, Liana N Semcesen, Atsushi Morimoto, Sangmoon Lee, David A Stroud, Joseph G Gleeson, Eric A Haan, Jozef Gecz