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Rita Horváth

john van geest cambridge centre for brain repair

79H指数
632论文数
2.1W被引数
收录论文 268
发表时间
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The role of impaired mitochondrial function in neurological manifestations of mitochondrial diseases线粒体功能障碍在线粒体疾病神经病学表现中的作用
errMammalian Genome
IF2.7
err2026-09-18
err0
errOAAI
errDanielle Brister; Mariana Zarate-Mendez; Denisa Hathazi; Rita Horvath
err分享
err收藏
A call for unified use of human aminoacyl-tRNA synthetase (ARS) gene nomenclature呼吁统一使用人氨基酰-tRNA合成酶(ARS)基因命名法
errFEBS Letters
IF3
err2026-09-15
err0
errOAAI
errAnthony Antonellis; Maximiliano Barrientos; Eva Bensasson; Teri DeClercq; Pablo Garrigós; Rachel Heilmann; Rita Horvath; Desiree Magee; Angelica Moresco; Ashley Rowland; Ingrid Vallee; Rebecca Alexander; Haissi Cui; Ita Gruić-Sovulj; Tamara L. Hendrickson; Sunghoon Kim; Jiqiang Ling; Susan A. Martinis; Karin Musier-Forsyth; Xiang-Lei Yang; Ilka U. Heinemann; Lluis Ribas de Pouplana
err分享
err收藏
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation线粒体DNA异质性驱动携带常见m.3243A>G突变的人类类器官中皮层神经元的紊乱
errNature Communications
IF15.7
err2026-06-21
err0
errOAAI
errDenisa Hathazi; Camilla Lyons; Daniel Lagos; Oliver Podmanicky; Mariana Zarate-Mendez; Yu Nie; Juliane S. Müller; Kieren S. J. Allinson; Huw Naylor; Majlinda Lako; Ibrahim Elsharkawi; Irena Muffels; Eva Morava; Tamas Kozicz; Patrick Chinnery; András Lakatos; Rita Horvath
err分享
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Disease-causing MFN2 mutants impair mitochondrial fission dynamics by distinct DRP1 dysregulation致病性MFN2突变体通过不同的DRP1失调损害线粒体分裂动力学
errCell Death & Disease
IF9.6
err2026-06-05
err0
errOAAI
errDaniel Lagos; Pamela R. de Santiago; Nicolás Pérez-Bravo; Benjamín Cartes-Saavedra; Josefa Vial-Brizzi; Diego Troncoso-Chandía; Oliver Podmanicky; Rita Horvath; Verónica Eisner
err分享
err收藏
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot–Marie-tooth neuropathiesp.(Leu97Ile)变异扩展了NEFL相关的夏科-玛丽-图思神经病变的遗传谱
errHuman Molecular Genetics
IF3.2
err2026-04-22
err0
errOAAI
errMenekse Oeztuerk; Sara Walli; David Muhmann; Catherine Choueiri; Vera Dobelmann; Angela Abicht; Barbara Leube; Ulrike Schara-Schmidt; Sven G Meuth; Rita Horvath; Hanns Lochmueller; Andreas Roos; Tobias Ruck; null
err分享
err收藏
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMELAS和卒中样发作的诊断标准与管理：基于共识的声明
errEuropean Journal of Neurology
IF3.9
err2026-04-18
err0
errOAAI
errMichelangelo Mancuso; Marcello Bellusci; Valerio Carelli; Irenaeus de Coo; Daria Diodato; Felix Distelmaier; Omar Hikmat; Michio Hirano; Rita Horvath; Amel Karaa; Thomas Klopstock; Mary Kay Koenig; Cornelia Kornblum; Chiara La Morgia; Piervito Lopriore; Mika Henrik Martikainen; Robert McFarland; Olimpia Musumeci; Robert D. S. Pitceathly; Guido Primiano; Shamima Rahman; Fernando Scaglia; Andrew Schaefer; Manuel Schiff; Luisa Semmler; Costanza Lamperti; Serenella Servidei
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err收藏
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort对一种罕见病队列中线粒体氨酰tRNA合成酶变异的系统分析
errEuropean Journal of Human Genetics
IF4.6
err2025-12-27
err0
errOAAI
errThiloka E. Ratnaike; M. Eren Kule; Ida Paramonov; Leslie Matalonga; Kiran Polavarapu; Catarina Olimpio; Rita Horváth
err分享
err收藏
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients
errJOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
err2025-11-15
err0
errOAAI
errKristensen, Erle; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Karppa, Mikko; Martikainen, Mika H.; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Sue, Carolyn M.; Walker, Judith Sylvia; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Hikmat, Omar
err分享
err收藏
Charting the Phenotypic Landscape of Mitochondrial Diseases through a Systematic Evaluation of Pathogenic Mitochondrial DNA and Nuclear Gene Variants通过系统评估致病线粒体DNA和核基因变异来绘制线粒体疾病的表型景观
errGenetics in Medicine
IF6.2
err2025-10-24
err0
errOAAI
errThiloka Ratnaike; Siddharth Ramanan; Nour Elkhateeb; Ramya Narayanan; Jenny Yang; Eszter Sara Arany; Manya Mirchandani; Rachael Piper; Katherine Schon; M.Eren Kule; Christopher Gilmartin; Angela Lochmüller; Emogene Shaw; Rita Horváth; Patrick F. Chinnery
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Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions脊髓小脑共济失调27A型伴发作性共济失调：成纤维细胞生长因子14（FGF14）微缺失病例系列
errCEREBELLUM
IF2.4
err2025-10-16
err0
errOAAI
errConci, Elena; Kelly, Thomas L.; Armstrong, Ruth; Harijan, Pooja; Horvath, Rita
err分享
err收藏
Variant-specific deep phenotyping as a tool to develop precision therapies变体特异性深度表型分析作为开发精准疗法的工具
errBrain
IF11.7
err2025-09-03
err0
errOAAI
errRita Horvath; Hanns Lochmüller
err分享
err收藏
Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy病例报告：致病性PNPLA2变异和 nonsense-mediated mRNA decay 导致一种早发性中性脂质贮积症伴肌病
errFrontiers in Genetics
IF2.8
err2025-08-29
err0
errOAAI
errSara Missaglia†; Eleonora Martegani†; Corrado Angelini; Rita Horvath; Veronika Karcagi; Endre Pal; Daniela Tavian
err分享
err收藏
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia痉挛性共济失调复合量表 (SPAXCOM)：用于评估具有痉挛和共济失调特征的受试者病情进展的量表
errMovement Disorders
IF7.6
err2025-08-20
err0
errOAAI
errCécile Di Folco MsC; Charlotte Dubec-Fleury MsC; Andreas Traschütz MD, PhD; Christoph Kessler MD; Selina Reich MsC; Cynthia Gagnon PhD; Isabelle Lessard MsC; Xavier Rodrigue MD; Sirio Cocozza MD, PhD; Sara Satolli MD; Filippo M. Santorelli MD; Alexandra Durr MD, PhD; Anna Heinzmann MD; Bart P. van de Warrenburg MD; Ilse H.J. Willemse MsC; A. Nazli Başak MD; Atay Vural MD; Bernard Brais MD; Stephan Klebe MD; Rita Horvath MD, PhD; PROSPAX Consortium; Rebecca Schüle MD; Matthis Synofzik MD, PhD; Sophie Tezenas du Montcel MD, PhD
err分享
err收藏
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
errlancet neurology
IF0
err2025-07-16
err0
errOAAI
errJ 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
err分享
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Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy代谢通路中的修饰变异与Leber's Hereditary Optic Neuropathy的显性增强相关。
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-05-09
err0
errOAAI
errArany, Eszter Sara; Olimpio, Catarina; Paramonov, Ida; Horvath, Rita
err分享
err收藏
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle显性肌溶解症与复发ATP2A2变异相关，该变异降低了肌肉中SERCA2的功能
errBRAIN
IF11.7
err2025-05-01
err0
errOAAI
errMalaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns
err分享
err收藏
Mitochondrial damage is associated with an early immune response in inclusion body myositis线粒体损伤与包涵体肌炎的早期免疫反应相关
errBrain
IF11.7
err2025-04-07
err0
PREAI
errFelix Kleefeld; Emily Cross; Daniel Lagos; Sara Walli; Benedikt Schoser; Andreas Hentschel; Tobias Ruck; Christopher Nelke; Katrin Hahn; Denisa Hathazi; Andrew L Mammen; Maria Casal-Dominguez; Marta Gut; Ivo Glynne Gut; Simon Heath; Anne Schänzer; Hans-Hilmar Goebel; Iago Pinal-Fernandez; Andreas Roos; Corinna Preuße; Werner Stenzel; Rita Horvath
err分享
err收藏
Transforming literature screening: The emerging role of large language models in systematic reviews变革文献筛选：大型语言模型在系统评价中的新兴作用
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2025-01-06
err3
errOAAI
errDelgado-Chaves, Fernando M.; Jennings, Matthew J.; Atalaia, Antonio; Wolff, Justus; Horvath, Rita; Mamdouh, Zeinab M.; Baumbach, Jan
err分享
err收藏
Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish
errHUMAN MOLECULAR GENETICS
IF3.2
err2024-12-04
err0
PREAI
errChoueiri, Catherine M.; Lau, Jarred; O'Connor, Emily; Dibattista, Alicia; Wong, Brittany Y.; Spendiff, Sally; Horvath, Rita; Pena, Izabella; Mackenzie, Alexander; Lochmuller, Hanns
err分享
err收藏
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets在基因组、外显子组和基因 panel 测序数据集中诊断脊髓性肌萎缩症漏诊病例
errGENETICS IN MEDICINE
IF6.2
err2024-12-01
err1
PREAI
errWeisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S.; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A.; Daugherty, Audrey L.; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Lusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmuller, Hanns; Horvath, Rita; Bonnemann, Carsten G.; Donkervoort, Sandra; Haliloglu, Goknur; Herguner, Ozlem; Kang, Peter B.; Scott, Hamish S.; Topf, Ana; Straub, Volker; Pajusalu, Sander; Ounap, Katrin; Tiao, Grace; Rehm, Heidi L.; O'Donnell-Luria, Anne
err分享
err收藏

研究方向

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Ana María Cuervo
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