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- [1] RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal PolyneuropathyJOURNAL OF NEUROLOGY, 2021, 268 (11) : 4280 - 4290Tagliapietra, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, ItalyCardellini, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, ItalyFerrarini, Moreno论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy论文数: 引用数: h-index:机构:Ferrari, Sergio论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, ItalyMonaco, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, ItalyCavallaro, Tiziana论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, ItalyFabrizi, Gian Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Policlin GB Rossi, Piazzale LA Scuro 10, I-37134 Verona, VR, Italy
- [2] RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal PolyneuropathyJournal of Neurology, 2021, 268 : 4280 - 4290Matteo Tagliapietra论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement SciencesDavide Cardellini论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement SciencesMoreno Ferrarini论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement SciencesSilvia Testi论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement SciencesSergio Ferrari论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement SciencesSalvatore Monaco论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement SciencesTiziana Cavallaro论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement SciencesGian Maria Fabrizi论文数: 0 引用数: 0 h-index: 0机构: University of Verona,Department of Neurosciences, Biomedicine, and Movement Sciences
- [3] Novel pathogenic repeat configurations in RFC1 causing CANVAS and disease spectrumEUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 : 61 - 61Abati, E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandDominik, N.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, EnglandMagri, S.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy UCL, Dept Neuromuscular Dis, London, EnglandCurro, R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandFacchini, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandMcPherson, H.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Long Read Sequencing Facil, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dementia Res Inst, London, England UCL, Dept Neuromuscular Dis, London, EnglandChintalapani, S.论文数: 0 引用数: 0 h-index: 0机构: Manchester Ctr Clin Neurosci, Motor Neurone Dis Care Ctr, Salford, England UCL, Dept Neuromuscular Dis, London, EnglandEaling, J.论文数: 0 引用数: 0 h-index: 0机构: Manchester Ctr Clin Neurosci, Motor Neurone Dis Care Ctr, Salford, England UCL, Dept Neuromuscular Dis, London, EnglandRadunovic, A.论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Barts MND Ctr, London, England UCL, Dept Neuromuscular Dis, London, EnglandSalsano, E.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy UCL, Dept Neuromuscular Dis, London, EnglandFenu, S.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy UCL, Dept Neuromuscular Dis, London, EnglandDi Bella, D.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy UCL, Dept Neuromuscular Dis, London, EnglandReilly, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandHoulden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandDeveson, I.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Gen, Darlinghurst, NSW, Australia UCL, Dept Neuromuscular Dis, London, EnglandTucci, A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, EnglandTaroni, F.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy UCL, Dept Neuromuscular Dis, London, EnglandCortese, A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL, Dept Neuromuscular Dis, London, England
- [4] Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVASJOURNAL OF HUMAN GENETICS, 2020, 65 (05) : 475 - 480Nakamura, Haruko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanDoi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanMitsuhashi, Satomi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanMiyatake, Satoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Frith, Martin C.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Adv Ind Sci & Technol, Artificial Intelligence Res Ctr, Koto Ku, 2-4-7 Aomi, Tokyo 1350064, Japan Univ Tokyo, Grad Sch Frontier Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778568, Japan Natl Inst Adv Ind Sci & Technol, Computat Bio Big Data Open Innovat Lab, Shinjuku Ku, 3-4-1 Okubo, Tokyo 1698555, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanAsano, Tetsuya论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanKudo, Yosuke论文数: 0 引用数: 0 h-index: 0机构: Yokohama Brain & Spine Ctr, Dept Neurol, Yokohama, Kanagawa 2350012, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanIkeda, Takuya论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanKubota, Shun论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanKunii, Misako论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Tada, Mikiko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanOkamoto, Mitsuo论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanJoki, Hideto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanTakeuchi, Hideyuki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, JapanTanaka, Fumiaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan
- [5] Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVASJournal of Human Genetics, 2020, 65 : 475 - 480Haruko Nakamura论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineHiroshi Doi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineSatomi Mitsuhashi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineSatoko Miyatake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineKazutaka Katoh论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineMartin C. Frith论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineTetsuya Asano论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineYosuke Kudo论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineTakuya Ikeda论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineShun Kubota论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineMisako Kunii论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineYu Kitazawa论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineMikiko Tada论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineMitsuo Okamoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineHideto Joki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineHideyuki Takeuchi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke MedicineFumiaki Tanaka论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Neurology and Stroke Medicine
- [6] REPEAT EXPANSION SIZE PREDICTS AGE OF ONSET IN RFC1 CANVAS AND DISEASE SPECTRUMJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S30 - S31Curro, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromusc Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyDominik, Natalia论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromusc Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyRonco, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy论文数: 引用数: h-index:机构:Nagy, Sara论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromusc Dis, London, England Univ Hosp Basel, Dept Neurol, Basel, Switzerland Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy论文数: 引用数: h-index:机构:Lavin, Tim论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Manchester Ctr Clin Neurosci, Manchester, Lancs, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyRadunovic, Aleksandar论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Barts Hlth NHS Trust, Dept Neurol, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyHammans, Simon论文数: 0 引用数: 0 h-index: 0机构: Southampton Gen Hosp, Wessex Neurol Ctr, Dept Neurol, Southampton, Hants, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy论文数: 引用数: h-index:机构:Colnaghi, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Insubria, Dept Neurol, Varese, Italy Univ Insubria, Stroke Unit, ASST Sette Laghi, Varese, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy论文数: 引用数: h-index:机构:Santorelli, Filippo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Stella Maris, Mol Med, Pisa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyDurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Pitie Salpetriere Univ Hosp, AP HP, Dept Genet, Paris, France Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyMarques, Wilson论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Sch Med, Ribeirao Preto, Brazil Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyMurphy, Sinead论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Neurol, Dublin, Ireland Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyChinnery, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalySumner, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Baltimore, MD USA Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyLeonardis, Lea论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Dept Neurol, Fac Med, Ljubljana, Slovenia Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyGrandis, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, DINOGMI, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyBellone, Emilia论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, DINOGMI, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyElena, Pegoraro论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, ERN Neuromusc Unit, Dept Neurosci, Padua, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalySilvestri, Gabriella论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli, Inst Neurol, Rome, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyMiller, James论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne, Tyne & Wear, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyDevigili, Grazia论文数: 0 引用数: 0 h-index: 0机构: Ist Neurol Carlo Besta, Fdn IRCCS, Milan, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyPinter, Giuseppe Lauria论文数: 0 引用数: 0 h-index: 0机构: Ist Neurol Carlo Besta, Fdn IRCCS, Milan, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyPareyson, Davide论文数: 0 引用数: 0 h-index: 0机构: Ist Neurol Carlo Besta, Fdn IRCCS, Milan, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyTaroni, Franco论文数: 0 引用数: 0 h-index: 0机构: Ist Neurol Carlo Besta, Fdn IRCCS, Milan, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalySchaefer, Andrew论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyBrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, Turin, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalySantoro, Lucio论文数: 0 引用数: 0 h-index: 0机构: Univ Federico II Napoli, Naples, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyManganelli, Fiore论文数: 0 引用数: 0 h-index: 0机构: Univ Federico II Napoli, Naples, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyTassorelli, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalySchenone, Angelo论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, DINOGMI, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyMandich, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, DINOGMI, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyJokela, Manu论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ, Dept Neurol, Neuromusc Res Ctr, Tampere, Finland Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyInfante, Jon论文数: 0 引用数: 0 h-index: 0机构: Univ Cantabria, Univ Hosp Marques Valdecilla IDIVAL, Santander, Spain Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyKennerson, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sidney Med Sch, Sydney, NSW, Australia Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Neurogenet Dis Grp, Nedlands, WA, Australia Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyLaing, Nigel论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Neurogenet Dis Grp, Nedlands, WA, Australia Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy论文数: 引用数: h-index:机构:Fabrizi, Gian Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyBriani, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Padua, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyGiunti, Paola论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromusc Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Miami, FL 33136 USA Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyBasak, A. Nazli论文数: 0 引用数: 0 h-index: 0机构: Koc Univ Sch, Suna & Inan Kirac Fdn, Neurodegenerat Res Lab, KUTTAM, Istanbul, Turkey Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyStrupp, Michael论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Munich, Germany Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyHartmann, Annette论文数: 0 引用数: 0 h-index: 0机构: Univ Halle, Dept Psychiat Psychoterapy & Psychosomat, Halle, Germany Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalySynofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res, Tubingen, Germany Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
- [7] Repeat expansion size predicts age of onset in RFC1 CANVAS and disease spectrumEUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 162 - 162Curro, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyDominik, N.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyPareyson, D.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyBrusco, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, Turin, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyTaroni, F.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyManganelli, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Federico II Napoli, Naples, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyTassorelli, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyMandich, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, DINOGMI, Genoa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyJokela, M.论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ, Dept Neurol, Neuromuscular Res Ctr, Tampere, Finland Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyInfante, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cantabria, Univ Hosp Marques de Valdecilla IDIVAL, Santander, Spain Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyRavenscroft, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Neurogenet Dis Grp, Med Res Ctr, QEII Med Ctr, Nedlands, WA, Australia Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy论文数: 引用数: h-index:机构:Santorelli, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Stella Maris, Mol Med, Pisa, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyFabrizi, G. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyBriani, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Padua, Italy Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyBasak, A.论文数: 0 引用数: 0 h-index: 0机构: Koc Univ Sch, Suna & Inan Kirac Fdn, Neurodegenerat Res Lab, KUTTAM, Istanbul, Turkey Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyStrupp, M.论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Munich, Germany Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyHartmann, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Halle, Dept Psychiat Psychoterapy & Psychosomat, Halle, Germany Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalySynofzik, M.论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res, Tubingen, Germany Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyHadjivassiliou, M.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Teaching Hosp NHS Trust, Sheffield, S Yorkshire, England Univ Sheffield, Sheffield, S Yorkshire, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Inst Myol, Pitie Salpetriere Hosp, APHP, Paris, France Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyReilly, M. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyHoulden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, ItalyCortese, A.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
- [8] INVESTIGATING LOSS OF REPLICATION FACTOR COMPLEX SUBUNIT 1 (RFC1) FUNCTION IN CANVAS PATIENTS AND HETEROZYGOUS AAGGG EXPANSION CARRIERSJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 : S156 - S156Curro, Riccardo论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandDominik, Natalia论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandPerini, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Inst Mol Genet IGM CNR Luigi Luca Cavalli Sforza, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandFacchini, Stefano论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandRonco, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandRugginini, Bianca论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandGhia, Arianna论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandSchnekenberg, Ricardo P.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England论文数: 引用数: h-index:机构:Grupelli, Glenda Paola论文数: 0 引用数: 0 h-index: 0机构: Inst Mol Genet IGM CNR Luigi Luca Cavalli Sforza, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandSimone, Roberto论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandJaunmuktane, Zane论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandClark, Alex J.论文数: 0 引用数: 0 h-index: 0机构: Barts & London Queen Marys Sch Med & Dent, Blizard Inst, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandVelasco, Roser论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Bellvitge, Dept Neurol, Neurooncol Unit, Barcelona, Spain UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandMoyano, Maria S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Infanta Sofia, Dept Med Oncol, Madrid, Spain UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandGutierrez-Gutierrez, Gerardo论文数: 0 引用数: 0 h-index: 0机构: Univ Europea Madrid, Hosp Univ Infanta Sofia, Dept Neurol, Madrid, Spain UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England论文数: 引用数: h-index:机构:Thomas, Simone论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandHoke, Ahmet论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandBennett, David L.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandCavaletti, Guido论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS San Gerardo Tintori, Dept Neurol, Monza, Italy Univ Milano Bicocca, Sch Med & Surg, Expt Neurol Unit, Monza, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandArgyriou, Andreas A.论文数: 0 引用数: 0 h-index: 0机构: Agios Andreas State Gen Hosp Patras, Dept Neurol, Patras, Greece UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandBruna, Jordi论文数: 0 引用数: 0 h-index: 0机构: Hosp Bellvitge Princeps Espanya, Dept Neurol, Neurooncol Unit, Barcelona, Spain UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandBriani, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Padua, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandJepson, James论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Expt Epilepsy, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandCrespan, Emmanuele论文数: 0 引用数: 0 h-index: 0机构: Inst Mol Genet IGM CNR Luigi Luca Cavalli Sforza, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandCortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
- [9] Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive diseasePARKINSONISM & RELATED DISORDERS, 2022, 103 : 98 - 101论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Hurme-Niiranen, Anri论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, Finland Oulu Univ Hosp, MRC, Oulu, Finland Univ Oulu, POB 5000, FI-90014 Oulu, Finland Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, FinlandSolje, Eino论文数: 0 引用数: 0 h-index: 0机构: Kuopio Univ Hosp, KUH NeuroCtr, Neurol, POB 100, Kuopio 70029, Finland Univ Eastern Finland, Inst Clin Med Neurol, POB 1627, Kuopio 70211, Finland Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, FinlandKatisko, Kasper论文数: 0 引用数: 0 h-index: 0机构: Univ Eastern Finland, Inst Clin Med Neurol, POB 1627, Kuopio 70211, Finland Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, FinlandLipponen, Joonas论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, Finland Oulu Univ Hosp, MRC, Oulu, Finland Univ Oulu, POB 5000, FI-90014 Oulu, Finland Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, FinlandLehtilahti, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, Finland Oulu Univ Hosp, MRC, Oulu, Finland Univ Oulu, POB 5000, FI-90014 Oulu, Finland Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, FinlandRemes, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, Finland Oulu Univ Hosp, MRC, Oulu, Finland Univ Oulu, POB 5000, FI-90014 Oulu, Finland Univ Helsinki, Biomedicurn, Clin Neurosci, POB 63, Helsinki 00014, Finland Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, Finland论文数: 引用数: h-index:机构:Kytovuori, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, Finland Oulu Univ Hosp, MRC, Oulu, Finland Univ Oulu, POB 5000, FI-90014 Oulu, Finland Oulu Univ Hosp, OUH Neuroctr, Neurol, FI-90029 Oulu, Finland Univ Oulu, Res Unit Clin Neurosci, Neurol, Oulu, Finland
- [10] Frequency of carrier of AAGGG repeat expansions in RFC1 gene in patients with sensorial peripheral neuropathy.EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 320 - 321Fenollar-Cortes, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, Spain Hosp Clin San Carlos, Inst Invest Clin San Carlos IdISSC, Madrid, Spain Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, SpainCotarelo-Perez, Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, Spain Hosp Clin San Carlos, Inst Invest Clin San Carlos IdISSC, Madrid, Spain Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, SpainOancea-Ionescu, Raluca论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, Spain Hosp Clin San Carlos, Inst Invest Clin San Carlos IdISSC, Madrid, Spain Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, SpainHorga, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Inst Invest Clin San Carlos IdISSC, Madrid, Spain Hosp Clin San Carlos, Unidad Enfermedades Neuromusculares, Serv Neurol, Madrid, Spain Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, SpainGuerrero-Sola, Antonio论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Inst Invest Clin San Carlos IdISSC, Madrid, Spain Hosp Clin San Carlos, Unidad Enfermedades Neuromusculares, Serv Neurol, Madrid, Spain Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, SpainGalan-Davila, Lucia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Inst Invest Clin San Carlos IdISSC, Madrid, Spain Hosp Clin San Carlos, Unidad Enfermedades Neuromusculares, Serv Neurol, Madrid, Spain Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, SpainHerrero-Forte, Clara论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, Spain Hosp Clin San Carlos, Inst Invest Clin San Carlos IdISSC, Madrid, Spain Hosp Clin San Carlos, Inst Med Lab, Serv Anal Clin, Unidad Genet Clin, Madrid, Spain