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R

Rita Horváth

university of cambridge

79H-index
630Paper Count
2.1WCitation Count
Published Papers 266
Publication Date
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Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation
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
errShare
errSave
Disease-causing MFN2 mutants impair mitochondrial fission dynamics by distinct DRP1 dysregulation
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
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errSave
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot–Marie-tooth neuropathies
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
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errSave
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements
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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errSave
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
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
errShare
errSave
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
errShare
errSave
Charting the Phenotypic Landscape of Mitochondrial Diseases through a Systematic Evaluation of Pathogenic Mitochondrial DNA and Nuclear Gene Variants
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
errShare
errSave
Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions
errCEREBELLUM
IF2.4
err2025-10-16
err0
errOAAI
errConci, Elena; Kelly, Thomas L.; Armstrong, Ruth; Harijan, Pooja; Horvath, Rita
errShare
errSave
Variant-specific deep phenotyping as a tool to develop precision therapies
errBrain
IF11.7
err2025-09-03
err0
errOAAI
errRita Horvath; Hanns Lochmüller
errShare
errSave
Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy
errFrontiers in Genetics
IF2.8
err2025-08-29
err0
errOAAI
errSara Missaglia†; Eleonora Martegani†; Corrado Angelini; Rita Horvath; Veronika Karcagi; Endre Pal; Daniela Tavian
errShare
errSave
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia
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
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errSave
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
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
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errSave
Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-05-09
err0
errOAAI
errArany, Eszter Sara; Olimpio, Catarina; Paramonov, Ida; Horvath, Rita
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errSave
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
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
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errSave
Mitochondrial damage is associated with an early immune response in inclusion body myositis
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
errShare
errSave
Transforming literature screening: The emerging role of large language models in systematic reviews
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
errShare
errSave
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
errShare
errSave
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets
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
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errSave
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution
errCELL DEATH & DISEASE
IF9.6
err2024-11-30
err0
errOAAI
errMacuada, J.; Molina-Riquelme, I.; Vidal, G.; Perez-Bravo, N.; Vasquez-Trincado, C.; Aedo, G.; Lagos, D.; Yu-Wai-Man, P.; Horvath, R.; Rudge, T. J.; Cartes-Saavedra, B.; Eisner, V.
errShare
errSave
Optimizing Cardiopulmonary Rehabilitaion Duration for Long COVID Patients: An Exercise Physiology Monitoring Approach.
errEUROPEAN RESPIRATORY JOURNAL
IF21
err2024-10-30
err0
PREAI
errSzarvas, Zsofia; Fekete, Monika; Szollosi, Gergo Jozsef; Kup, Katica; Horvath, Rita; Schimizu, Maya; Tsuchiya, Fuko; Cho, Ha Eun; Wu, Huang-Tzu; Pongor-Fazekas, Vincze; Kovacs, Orsolya; Pete, Kinga Nedda; Cserjesi, Renata; Bakos, Regina; Gobe, Orsolya; Gyongyosi, Kata; Pinter, Renata; Kolozsvari, Dora; Kovats, Zsuzsanna; Ungvari, Zoltan; Tarantini, Stefano; Horvath, Gabor; Mulle, Veronika; Varga, Janos Tamas
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
T
Thomas Meitinger
H-index: 168 · Papers: 957
A
André Franke
H-index: 152 · Papers: 1.2K
I
Ingrid E. Scheffer
H-index: 141 · Papers: 1.0K
N
Nicholas Wood
H-index: 139 · Papers: 1.1W
A
Ana María Cuervo
H-index: 133 · Papers: 421
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