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Bio
Title: Director of Research in Rare Inherited Neurological Diseases , MD, PhD
Honorary Consultant Neurologist – Cambridge University Hospitals NHS Trust, GMC number: 6161887
Address: Department of Clinical Neurosciences, University of Cambridge, John Van Geest Cambridge Centre for Brain Repair, Robinson Way, Cambridge CB2 0PY, Email: rh732@medschl.cam.ac.uk; Phone: +44 (0) 7934450687
Previous Positions
1988-1992 Scholar of the Hungarian Academy of Sciences, Dept. of Neurology, Jahn Ferenc Dél-pesti Hospital, Budapest, Hungary
1992-1999 Neurologist, Dept. of Neurology, Jahn Ferenc Del-pesti Hospital, Budapest, Hungary
1999-2004 Research in mitochondrial diseases, Hospital Schwabing, Munich, Germany
2004-2006 Leader of the Mitochondrial Genetic Diagnostic Laboratory, Munich, Germany
2003-2006 Consultant in Neurogenetics, Jahn Ferenc Dél-pesti Hospital, Budapest, Hungary
2006-2007 Mitochondrial diagnostic service/neurogenetics clinic; Medical Genetic Centre, Munich, Germany
2007-2010 Lecturer in Mitochondrial Research, Newcastle University, UK
2010-2018 Honorary Consultant, Newcastle NHS Trust, UK
2010-2013 Senior Lecturer, Institute of Genetic Medicine, Newcastle University, UK
2013-2018 Professor of Neurogenetics, Institute of Genetic Medicine, Newcastle University, UK
Sept 2018 - Director of Research, Department of Clinical Neurosciences, University of Cambridge, UK
Honorary Consultant Neurologist, Cambridge University Hospitals NHS Trust, UK
Education/Qualifications
Semmelweis Medical University, Budapest, Hungary MD (1988)
Postdoctoral Medical University, Budapest, Hungary neurology specialisation (1992)
Hungarian Academy of Sciences ` PhD ( 2000)
Research Interest
• mitochondrial disease (mitochondrial translation deficiencies, reversible mitochondrial diseases)
• inherited peripheral neuropathies (Charcot-Marie-Tooth disease)
• metabolic diseases, cerebellar ataxias, spastic paraplegias, neurodegeneration with brain iron accumulation
Memberships
Ataxia UK, Medical Advisory Board ; Society for Neuroscience; Association of British Neurologists, Neuromuscular Advisory Group; Peripheral Nerve Society
National and International recognition
1990 Neuromuscular fellowship, University of Oxford, supervisor: Prof. John Newsom-Davis
1995 Mitochondrial fellowship funded by the Soros Foundation, Montreal Neurological Institute, McGill University, supervisor: Prof. Eric A. Shoubridge
2006 Felix-Jerusalem Prize for outstanding research in muscle disease awarded by the German Muscular Dystrophy Association (DGM)
2016 - Chair of the Mitochondrial Disease Group in the Neuromuscular European Reference Network (EURO-NMD)
2019 - Organising Committee member of the Mitochondrial Medicine Conference (Wellcome Campus)
Editorial Boards: Brain (since 2021), Journal of Neuromuscular Diseases (since 2014)
Research Supervision
5 MSc, 6 MRes, 7 BSc students, 18 doctoral students (PhD and MD): 5 ongoing and 13 completed; PhD examiner of 19 PhDs
Research Grants - Principal Investigator
MRC Cellular and Molecular Biology Board Research Grant
The Cambridge University/Montreal Neurological Institute-Hospital Neuroscience Collaboration: Joint Research Funding
Evelyn Trust Research Grant
Lily Foundation Research Grant
Wellcome Investigator Award (109915/Z/15/Z)
MRC Neurosciences and Mental Health Board Grant (MR/N025431/1)
Newton Fund (UK/Turkey) MR/N027302/1
Wellcome Trust Pathfinder Award 201064/Z/16/Z
Starter Grant, European Research Council (ERC) (309548)
New Investigator Research Grant, Medical Research Council (MRC) UK (BH100898)
Academy of Medical Sciences, Starter Grant for Clinical Lecturers (BH090164)
The Newcastle upon Tyne Hospitals NHS Foundation Trust
German Research Council, DFG, HO2505/2-1
Co-investigator
International Centre for Genomic Medicine in Neuromuscular Diseases ICGNMD
HORIZON 2020 EU Grant: Solve-RD
Wellcome Trust Centre for Mitochondrial Research Newcastle
Wellcome Multi-User Equipment Grant 208339/Z/17/Z
MRC Confidence in Concept Fund
FP7-PEOPLE-ITN (Marie-Curie Action)(317433) Mitochondrial European Educational Training MEET
MRC Centre for Neuromuscular Disease
French Muscular Dystrophy Association (AFM)
259 Original research papers, 21 reviews and 7 book chapters (h-index 58, i10-index 203, citations: 12584, 20/10/2020 Google scholar)
Research Interests
Papers共 610 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Denisa Hathazi, Camilla Lyons, Daniel Lagos, Oliver Podmanicky, Mariana Zarate-Mendez, Nell Nie,Juliane Mueller, Kieren Allison,Majlinda Lako, Eva Morava-Kozicz,Tamas Kozicz,Patrick F. Chinnery,Andras Lakatos,Rita Horvath
biorxiv(2025)
Alessandro Bertini,Mary M Reilly,Chiara Pisciotta,Stefano C Previtali,Yesim Parman,Esra Battaloglu,Matilde Laurà,Julian Blake,Sabrina Sacconi, Shahram Attarian,Tanya Stojkovic,Mounia Bellatache,Sonia Nouioua,Meriem Tazir,Arman Cakar,Antonio Gambardella,Paola Valentino,Richard A Lewis,Rita Horvath,Alberto A Zambon,Mario Sabatelli,Marco Luigetti,Stefano Tozza,Fiore Manganelli,David N Herrmann,Steven S Scherer,Nicole Kressin,Kailee Ward,Alessandra Bolino,Michael E Shy,Davide Pareyson, CMTB Study Group, Inherited Neuropathy Consortium
European journal of neurologyno. 2 (2025): e70084-e70084
M. Y. Tiet, B.-I. Guțu, P. Springall-Jeggo, D. Coman, M. Willemsen, N. Van Os, M. Doria,H. Donath, R. Schubert,R. A. Dineen, S. Biagiotti, A. P. Prayle, A. T. Biomarker Working Group,A. E. Hensiek,R. Horvath
Journal of Neurologyno. 2 (2025): 1-18
Steven Laurie,Wouter Steyaert, Elke de Boer,Kiran Polavarapu,Nika Schuermans, Anna K Sommer, German Demidov,Kornelia Ellwanger,Ida Paramonov, Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti, Gemma Bullich, Patrick F Chinnery, Jill Clayton-Smith, Enzo Cohen,Daniel Danis, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre, Marcos Fernandez-Callejo,Mallory Freeberg, José Garcia-Pelaez, Lena Guillot-Noel,Tobias B Haack, Mike Hanna, Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson, Lennart Johansson,Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller, Estrella López-Martín,Alfons Macaya, Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro, Catarina Olimpio,Carla Oliveira, Jaroslava Paulasová Schwabová,Martje G Pauly,Borut Peterlin, Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia, Manuel Posada, Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls, Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A Swertz,Marco Tartaglia, Iris B A W Te Paske,Rachel Thompson,Annalaura Torella, Christina Trainor,Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello, Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke, Doreen William, Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium, Anthony J Brookes, Teresinha Evangelista,Christian Gilissen,Holm Graessner, Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga, Han G Brunner,Katja Lohmann,Richarda M de Voer,Ana Töpf, Lisenka E L M Vissers,Sergi Beltran,Alexander Hoischen
Nature medicine (2025)
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
Human molecular geneticsno. 11 (2025): 967-977
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Diseasepp.521-532, (2025)
Menekse Oeztuerk,Diran Herebian, Kale Dipali,Andreas Hentschel, Nina Rademacher,Florian Kraft,Rita Horvath,Felix Distelmaier,Sven G Meuth,Tobias Ruck,Ulrike Schara-Schmidt,Andreas Roos
Frontiers in molecular neuroscience (2025): 1548255-1548255
Robert Harkness,John H McDermott, Shea Marsden, Peter Jamieson,Kay A Metcalfe,Naz Khan,William L Macken,Robert DS Pitceathly,Christopher J Record,Reza Maroofian, Kloepa Kloepas,Ataf Sabir, Saicat Sintra,Enise Avci Durmusalioglu,Tahir Atik,Esra Isik,Ozgur Cogulu,Jill E Urquhart,Glenda Beaman,Leigh AM Demain,Adam Jackson,Alexander JM Blakes,Helen J Byers, Hayley Bennett, Wei-Hsiang Lin,Antony Adamson,Sanjai Patel,Wyatt Yue,Robert W Taylor,Janine Reunert,Thorsten Marquardt,Rebecca Buchert,Tobias Haack, Heike Losch,Lukas Ryba,Petra Lassuthova, Radka Valkovicova, Jana Haverlova, Barbora Lauerova, Eva Trusikova,Kiran Polavarapu, Ozge Aksel Kilocarslan, Hanns Lockmuller,Saeid Sadeghian,Mina Zamani, Niloofar Chamanrou,Gholamreza Shariati,Reza Azizimalamiri,Sateesh Maddirevula,Mohammad AlMuhaizea,Fowzan S Alkuraya,Rita Horvath,Serdal Gungor,Emma Wakeling,Adnan Manzur,Pinki Munot, Rachael Matthews,Siddharth Banka,Mary Reilly,Daimark Bennett,Raymond T O'Keefe,William G Newman
medrxiv(2025)
Fernando M Delgado-Chaves,Matthew J Jennings, Antonio Atalaia, Justus Wolff,Rita Horvath,Zeinab M Mamdouh, Jan Baumbach,Linda Baumbach
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Author Statistics
#Papers: 610
#Citation: 17363
H-Index: 70
G-Index: 112
Sociability: 8
Diversity: 4
Activity: 112
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