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R

Robert W. Taylor

newcastle university
H指数:97
被引数:3.9万

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Identification of substrates of the human mitochondrial ClpXP protease and its implications for Perrault syndrome

鉴定人线粒体ClpXP蛋白酶的底物及其对佩罗综合征的启示

Nature Communications
IF15.7
2026-09-240
OA
Mazen E. Aljghami; Trevor M. Morey; Mark F. Mabanglo; Jonathan J. Meyrick; Huw B. Thomas; Jiacheng Yu; Arveen Tahmasebi; King Lam Lai; Benjamin Bernard Armando Raymond; Matthias Trost; Robert W. Taylor; Raymond T. O’Keefe; William G. Newman; Uwe Richter; Walid A. Houry
A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization

一种新型SLC25A4变异体导致线粒体功能障碍、肌病和心肌病：功能与分子特征研究

International Journal of Molecular Sciences
IF4.9
2026-08-040
OA
Mazhor Aldosary; Hanan AlQudairy; Nourah Alshalan; Mohammad A. Al-Muhaizea; Eman Alobeid; Albandary AlBakheet; Ebtissal Khouj; Aljoharah M. Alharbi; Walaa Alenazi; Hanin R. Omar; Monther Alhamdoosh; Abdullah Alsuwaidan; Hindi Alhindi; Ahmed Alfares; Anas M. Alazami; Stefan T. Arold; Dilek Colak; Robert W. Taylor; Namik Kaya
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy

COXFA4L2上调在COXFA4相关 Leigh样脑病中维持残余细胞色素c氧化酶活性

Nature Communications
IF15.7
2026-05-300
OA
Micol Falabella; Sandra Lopez Calcerrada; Jana Aref; Jiaze Gao; William L. Macken; Chiara Pizzamiglio; Renata Kabiljo; Anna Lucia Francavilla; Pauline Gaignard; Antoine Pouzet; Jonathan Levy; Giulia Barcia; Jamie K. Leighton; Efstathia Chronopoulou; Germaine Pierre; Riza Köksal Özgül; Ali Dursun; Rebecca Halligan; Helen Mundy; Javeria Raza Alvi; Tipu Sultan; William James Craigen; Lisa Emrick; Jill A. Rosenfeld; Gehad Elmakkawy; JiHye Kim; Joseph J. Gleeson; Aboulfazl Rad; Gabriela Oprea; Maqbool Hussain; Khalil Ur Rehman; Sadia Riaz; Robert W. Taylor; Vincent Procaccio; Maha S. Zaki; Erika Fernandez-Vizarra; Ciro Leonardo Pierri; Michael G. Hanna; Henry Houlden; Reza Maroofian; Cristina Ugalde; Jan-Willem Taanman; Robert D. S. Pitceathly
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series

儿童中biallelic RCC1变异者在感染后出现的急性起病轴索神经病：一个病例系列

lancet neurology
IF0
2025-07-160
OAAI
J Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G Newman
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

扩展POLRMT相关线粒体疾病的遗传和表型谱

Clinical Genetics
IF2.3
2025-06-290
OA
Mahmoud R. Fassad; Sebastian Valenzuela; Monika Oláhová; Jack J. Collier; Charlotte V. Y. Knowles; Eleni Mavraki; Miriam Elbracht; Nergis Güzel; Thomas Herberhold; Ingo Kurth; Andrea Maier; Larissa Mattern; Carol Saunders; Helen McCullagh; Katrin Õunap; Saskia B. Wortmann; Andre Reis; Lei Zhang; Claes M. Gustafsson; Robert McFarland; Robert W. Taylor
Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

婴儿性小脑-视网膜变性伴随新型ACO2变异：临床特征及果蝇模型的启示

CLINICAL GENETICS
IF2.3
2025-04-100
OAAI
Edgar Buhl; Suchika Garg; Marie Monaghan; Amy Preston; Marcus Likeman; Julianne Dare; Julie Evans; Lucie S. Taylor; Ian Berry; Kathryn Urankar; Paul G. D. Spry; Cathy Williams; Robert W. Taylor; Charlotte L. Alston; James J. L. Hodge; Anirban Majumdar
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland

迟发性类多酰基辅酶A脱氢酶缺乏症：来自苏格兰西部的病例系列

NEUROMUSCULAR DISORDERS
IF2.8
2025-04-010
PRE
Watson-Fargie, Taylor; Coomber, Autumn; Edwards, Rachel; Barr, Marianne; Brennan, Kathryn; Fletcher, Elaine; Miller-Hodges, Eve; O'Sullivan, Dawn; Stewart, Kirsty; Hopton, Sila; He, Langping; Alston, Charlotte L.; Taylor, Robert W.; Straub, Volker; Topf, Ana; Stewart, William; Longman, Cheryl; Farrugia, Maria E.
Genetic analysis and multimodal imaging confirm m.12148 T> C mitochondrial variant pathogenicity leading to multisystem dysfunction

遗传分析和多峰成像证实m.12148t> C线粒体变异致病性导致多系统功能障碍

MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-03-010
PRE
Belle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H.
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
EMBO MOLECULAR MEDICINE
IF8.3
2024-11-201
PRE
Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
NATURE GENETICS
IF31.8
2024-03-017
OAAI
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

RNF213的De novo变异与从Leigh综合征到早发性中风的临床范围相关

GENETICS IN MEDICINE
IF6.2
2024-02-015
PRE
Brunet, Theresa; Zott, Benedikt; Lieftuchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Huning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; MihaljeviC, Mihaela; Barisic, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Kramer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
BRAIN
IF11.7
2023-12-232
PRE
Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio

研究方向

暂未获取到该数据
D
Douglass M. Turnbull
H 指数:125论文数:818被引数:5.8万
R
Robert McFarland
H 指数:68论文数:369被引数:1.6万
E
Emma L. Blakely
H 指数:48论文数:221被引数:8,621
C
Charlotte L. Alston
H 指数:48论文数:143被引数:7,567
P
Patrick F. Chinnery
H 指数:128论文数:940被引数:6.2万
G
Gráinne S. Gorman
H 指数:52论文数:261被引数:1.0万
L
Langping He
H 指数:35论文数:133被引数:4,246
A
Andrew M. Schaefer
H 指数:45论文数:125被引数:7,912
R
Rita Horváth
H 指数:79论文数:636被引数:2.1万
H
Holger Prokisch
H 指数:100论文数:657被引数:4.8万