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

Novel Lipid-Based Formulation to Enhance Coenzyme Q10 Bioavailability: Preclinical Assessment and Phase 1 Pharmacokinetic Trial

一种新型脂质体配方可提高辅酶Q10的生物利用度:临床前评估和I期药代动力学试验

Fratter, Andrea; Colletti, Alessandro; Cravotto, Giancarlo; Pellizzato, Marzia; Papetti, Adele; Pellicorio, Vanessa; Bolego, Chiara; Simiele, Marco; D'Avolio, Antonio; Cignarella, Andrea

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

常染色体显性遗传性HK1相关神经发育障碍伴视觉缺陷和脑部异常(NEDVIBA):一种新出现的线粒体疾病

Ng, Bobby G; Eklund, Erik A; Rosenfeld, Jill A; Elias, Abdallah F; Abu-El-Haija, Aya; Bris, Celine; Barth, Magalie; Chae, Jong-Hee; Choi, Murim; Dubbs, Holly A; Fratter, Carl; Foulds, Nicola; Gamble, Candace; Gavrilova, Ralitza H; Haven, Jaclyn; Hoffman, Trevor L; Hunter, Jill V; Larson, Austin; Lotze, Timothy Edward; Magoulas, Pilar; Magness, Emily C; Bootin, Debra M; Marsh, Eric D; Nesbitt, Victoria; Pastore, Matthew T; Poulton, Joanna; Rahman, Shamima; Scaglia, Fernando; Murali, Chaya; Posey, Jennifer; Rotenberg, Joshua; Schmalz, Betsy; Shinde, Deepali N; Powis, Zöe; Sukenik-Halevy, Rivka; Truxal, Kristen V; Uster, Tami; Machado Bressan Wilke, Matheus Vernet; Klee, Erik; Woo, Hyewon; Younkin, Donald; Zhao, Jianhua; Granadillo, Jorge; Lalani, Seema; Chitayat, David; Chung, Wendy K; Freeze, Hudson H; Okur, Volkan

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

在 m.11778G>A Leber 遗传性视神经病变变异背景下的双基因 Leigh 综合征

Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

一项全国基因组测序计划中,33924个罕见病家庭的倒位效应研究

Alistair T Pagnamenta ,Jing Yu ,Susan Walker ,Alexandra J Noble ,Jenny Lord ,Prasun Dutta ,Mona Hashim ,Carme Camps ,Hannah Green ,Smrithi Devaiah ,Lina Nashef ,Jason Parr ,Carl Fratter ,Rana Ibnouf Hussein ,Sarah J Lindsay ,Fiona Lalloo ,Benito Banos-Pinero ,David Evans ,Lucy Mallin ,Adrian Waite ,Julie Evans ,Andrew Newman ,Zoe Allen ,Cristina Perez-Becerril ,Gavin Ryan ,Rachel Hart ,John Taylor ,Tina Bedenham ,Emma Clement ,Ed Blair ,Eleanor Hay ,Francesca Forzano ,Jenny Higgs ,Natalie Canham ,Anirban Majumdar ,Meriel McEntagart ,Nayana Lahiri ,Helen Stewart ,Sarah Smithson ,Eduardo Calpena ,Adam Jackson ,Siddharth Banka ,Hannah Titheradge ,Ruth McGowan ,Julia Rankin ,Charles Shaw-Smith ,D Gareth Evans ,George J Burghel ,Miriam J Smith ,Emily Anderson ,Rajesh Madhu ,Helen Firth ,Sian Ellard ,Paul Brennan ,Claire Anderson ,Doug Taupin ,Mark T Rogers ,Jackie A Cook ,Miranda Durkie ,James E East ,Darren Fowler ,Louise Wilson ,Rebecca Igbokwe ,Alice Gardham ,Ian Tomlinson ,Diana Baralle ,Holm H Uhlig ,Jenny C Taylor

Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome

核苷补充剂治疗线粒体DNA耗竭综合征

Dombi, Eszter; Marinaki, Tony; Spingardi, Paolo; Millar, Val; Hadjichristou, Nastasia; Carver, Janet; Johnston, Iain G; Fratter, Carl; Poulton, Joanna

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

线粒体疾病的基因检测:英国最佳实践指南

Mavraki, Eleni; Labrum, Robyn; Sergeant, Kate; Alston, Charlotte L; Woodward, Cathy; Smith, Conrad; Knowles, Charlotte V Y; Patel, Yogen; Hodsdon, Philip; Baines, Jack P; Blakely, Emma L; Polke, James; Taylor, Robert W; Fratter, Carl

OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy

OMA1 介导 CHCHD10 线粒体肌病中针对蛋白质错误折叠的局部和整体应激反应

Mario K Shammas, Xiaoping Huang, Beverly P Wu, Evelyn Fessler, Insung Y Song, Nicholas P Randolph, Yan Li, Christopher Ke Bleck, Danielle A Springer, Carl Fratter, Ines A Barbosa, Andrew F Powers, Pedro M Quirós, Carlos Lopez-Otin, Lucas T Jae, Joanna Poulton, Derek P Narendra

Prostatic Therapeutic Efficacy of LENILUTS(®), a Novel Formulation with Multi-Active Principles

LENILUTS®(一种具有多种活性成分的新型制剂)的前列腺治疗效果

Tedesco, Erik; Benetti, Federico; Castelli, Simone; Fratter, Andrea

Nutraceutical Approaches to Dyslipidaemia: The Main Formulative Issues Preventing Efficacy

营养保健品治疗血脂异常:影响疗效的主要配方问题

Colletti, Alessandro; Fratter, Andrea; Pellizzato, Marzia; Cravotto, Giancarlo

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

利用全基因组测序确定疑似线粒体疾病的遗传基础:队列研究

Schon, Katherine R; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibañez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D S; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Clement, Emma; Ashton, Emma; Sayer, John A; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fratter, Carl; Nesbitt, Victoria; Barrett, Timothy; McMullen, Dominic J; Smith, Audrey; Deshpande, Charulata; Smithson, Sarah F; Festenstein, Richard; Canham, Natalie; Caulfield, Mark; Houlden, Henry; Rahman, Shamima; Chinnery, Patrick F