共 50 条
- [21] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxiaJournal of Human Genetics, 2020, 65 : 1143 - 1147Mai Tsuchiya论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesHaitian Nan论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesKishin Koh论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesYuta Ichinose论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesLihua Gao论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesKeisuke Shimozono论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesTakanori Hata论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesYeon-Jeong Kim论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesToshihisa Ohtsuka论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesAndrea Cortese论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical SciencesYoshihisa Takiyama论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Graduate School of Medical Sciences
- [22] Repeat Expansions of RFC1 in Refractory Chronic Cough A Missing Piece of the Puzzle?CHEST, 2023, 163 (04) : 911 - 915Guilleminault, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, France Toulouse Univ Hosp, Fac Med, Dept Resp Med, Toulouse, France Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, France论文数: 引用数: h-index:机构:Melloni, Boris论文数: 0 引用数: 0 h-index: 0机构: CHU Limoges, Dept Resp Dis, Dupuytren 2, Limoges, France Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, FranceMagdelaine, Corinne论文数: 0 引用数: 0 h-index: 0机构: CHU Limoges, Serv Biochim & Genet Mol, Limoges, France Univ Limoges, NeurIT UR20218, Limoges, France Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, FranceVilleneuve, Thomas论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Fac Med, Dept Resp Med, Toulouse, France Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, FranceBrouquieres, Danielle论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Fac Med, Dept Resp Med, Toulouse, France Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, FranceLia, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Limoges, Serv Biochim & Genet Mol, Limoges, France Univ Limoges, NeurIT UR20218, Limoges, France CHU Limoges, Serv Bioinformat, Limoges, France Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, FranceMagy, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Limoges, NeurIT UR20218, Limoges, France CHU Limoges, Ctr Reference Neuropathies Peripher Rares, Serv & Lab Neurol, NNerf, Limoges, France Univ Toulouse III, Toulouse Inst Infect & Inflammatory Dis Infin, INSERM UMR1291, CNRS UMR5051, Toulouse, France
- [23] Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseBRAIN, 2024, 147 (05) : 1887 - 1898Curro, Riccardo论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandDominik, Natalia论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandFacchini, Stefano论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandVegezzi, Elisa论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, I-27100 Pavia, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandSullivan, Roisin论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandDeforie, Valentina Galassi论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandFernandez-Eulate, Gorka论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Inst Myol, Nord Est Ile De France Neuromuscular Reference Ct, AP HP, F-75013 Paris, France UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandTraschuetz, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res & Ctr Neurol, Res Div Translat Genom Neurodegenerat Dis, Tubingen, Germany Univ Tubingen, German Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandRossi, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ Gemelli IRCCS, Dipartimento Sci Invecchiamento, Neurol Ortoped & Testa Collo, UOC Neurol, Rome, Italy Univ Cattolica Sacro Cuore, Fac Med & Chirurg, Dipartimento Neurosci, I-00168 Rome, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandGaribaldi, Matteo论文数: 0 引用数: 0 h-index: 0机构: SAPIENZA Univ Rome, St Andrea Hosp, Neuromuscular & Rare Dis Ctr, Dept Neurosci Mental Hlth & Sensory Organs NESMOS, Rome, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandKwarciany, Mariusz论文数: 0 引用数: 0 h-index: 0机构: Gdansk Med Univ, Dept Adult Neurol, Gdansk, Poland UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandTaroni, Franco论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandBrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, I-10124 Turin, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England论文数: 引用数: h-index:机构:Cavalcanti, Francesca论文数: 0 引用数: 0 h-index: 0机构: Inst Res & Biomed Innovat IRIB, Italian Natl Res Council CNR, Catania, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandHammans, Simon论文数: 0 引用数: 0 h-index: 0机构: Southampton Gen Hosp, Wessex Neurol Ctr, Southampton SO16 6YD, Hants, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandRoxburgh, Richard H.论文数: 0 引用数: 0 h-index: 0机构: Univ Auckland, Ctr Brain Res, Auckland 1142, New Zealand UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandSchnekenberg, Ricardo Parolin论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandRugginini, Bianca论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Quartesan, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandGhia, Arianna论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, Englandde Munain, Adolfo Lopez论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandManganelli, Fiore论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Neurosci, Reprod Sci & Odontostomatol, Naples, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandKennerson, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW 2050, Australia UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandSantorelli, Filippo Maria论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandInfante, Jon论文数: 0 引用数: 0 h-index: 0机构: Univ Cantabria, Marques Valdecilla Univ Hosp, Pathol Anat Dept, IDIVAL, Santander 39008, Spain UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandMarques, Wilson论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Neurol, BR-14049900 Ribeirao Preto, Brazil UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandJokela, Manu论文数: 0 引用数: 0 h-index: 0机构: Univ Tampere, Tampere Univ Hosp, Neuromuscular Res Ctr, Dept Neurol, FIN-33520 Tampere, Finland Univ Turku, Turku Univ Hosp, Dept Neurol, Turku 20014, Finland UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandMurphy, Sinead M.论文数: 0 引用数: 0 h-index: 0机构: Tallaght Univ Hosp, Dept Urol, Dublin D24 NR0A, Ireland Trinity Coll Dublin, Dublin D02 W05, Ireland UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandMandich, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol, Genet Maternal & Child Hlth DINOGMI, I-16132 Genoa, Italy IRCCS Osped Policlin San Martino, UOC Genet Med, Genoa, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandFabrizi, Gian Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandBriani, Chiara论文数: 0 引用数: 0 h-index: 0机构: Padova Univ Hosp, Dept Neurosci, Neurol Clin, Padua, Italy UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandGosal, David论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Hosp, Northern Care Alliance NHS Fdn Trust, Manchester Ctr Clin Neurosci, Manchester M6 8HD, Lancs, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandPareyson, Davide论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandFerrari, Alberto论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandPrados, Ferran论文数: 0 引用数: 0 h-index: 0机构: UCL, Ctr Med Image Comp, Dept Med Phys & Biomed Engn, London WC1V 6LJ, England UCL Inst Neurol, NMR Res Unit, London WC1N 3BG, England Univ Oberta Catalunya, eHlth Ctr, Barcelona 08018, Spain UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandYousry, Tarek论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Queen Sq, London WC1N 3BG, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandKhurana, Vikram论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Ann Romney Ctr Neurol Dis, Dept Neurol, Brigham & Womens Hosp, Boston, MA 02115 USA UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandKuo, Sheng-Han论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandMiller, James论文数: 0 引用数: 0 h-index: 0机构: Newcastle Tyne Hosp NHS Fdn Trust, Royal Victoria Infirm, Dept Paediat Surg, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandTroakkes, Claire论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Basic & Clin Neurosci, London Neurodegenerat Dis Brain Bank, London, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandJaunmuktane, Zane论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Clin & Movement Neurosci, Univ Coll London Queen Sq Inst Neurol, London, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandGiunti, Paola论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandHartmann, Annette论文数: 0 引用数: 0 h-index: 0机构: Univ Vienna, Sch Med, Div Gen Psychiat, A-1090 Vienna, Austria UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandBasak, Nazli论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Translat Med Res Ctr, Sch Med, Suna & Inan Kirac Fdn,Neurodegenerat Res Lab, Istanbul, Turkiye UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandSynofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res & Ctr Neurol, Res Div Translat Genom Neurodegenerat Dis, Tubingen, Germany Univ Tubingen, German Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, EnglandStojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Inst Myol, Nord Est Ile De France Neuromuscular Reference Ct, AP HP, F-75013 Paris, France UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London WC1N 3BG, England
- [24] Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaNature Genetics, 2019, 51 : 649 - 658Andrea Cortese论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseRoberto Simone论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseRoisin Sullivan论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseJana Vandrovcova论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseHuma Tariq论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseWai Yan Yau论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseJack Humphrey论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseZane Jaunmuktane论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseasePrasanth Sivakumar论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseJames Polke论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseMuhammad Ilyas论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseEloise Tribollet论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseasePedro J. Tomaselli论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseGrazia Devigili论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseIlaria Callegari论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseMaurizio Versino论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseVincenzo Salpietro论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseStephanie Efthymiou论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseDiego Kaski论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseNick W. Wood论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseNadja S. Andrade论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseElena Buglo论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseAdriana Rebelo论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseAlexander M. Rossor论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseAdolfo Bronstein论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseasePietro Fratta论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseWilson J. Marques论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseStephan Züchner论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseMary M. Reilly论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular DiseaseHenry Houlden论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery,Department of Neuromuscular Disease
- [25] Optical Genome Mapping Enables Accurate Detection And Quantification of RFC1 Repeat Expansion in CANVASEUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 235 - 235Ronco, R.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, EnglandFacchini, S.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, EnglandDominik, N.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, EnglandCurro, R.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, EnglandNagy, S.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Univ Basel, Univ Hosp Basel, Dept Neurol, Basel, Switzerland UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandSimone, R.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, EnglandBugiardini, E.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, H.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, EnglandCortese, 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 UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
- [26] Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaNATURE GENETICS, 2019, 51 (04) : 649 - +Cortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandSimone, Roberto论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandSullivan, Roisin论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandVandrovcova, Jana论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandTariq, Huma论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandYan, Yau Way论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandHumphrey, Jack论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, 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: Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandSivakumar, Prasanth论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandPolke, James论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Neurogenet Lab, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England论文数: 引用数: h-index:机构:Tribollet, Eloise论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandTomaselli, Pedro J.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Neurol, Ribeirao Preto, Brazil UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandDevigili, Grazia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, UO Neurol 1, Milan, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandCallegari, Ilaria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, Pavia, Italy UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England论文数: 引用数: h-index:机构:Salpietrol, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandKaski, Diego论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandWood, Nick W.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandAndrade, Nadja S.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Ctr Therapeut Innovat, Dept Psychiat & Behav Sci, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandBuglo, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandRebelo, Adriana论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandRossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandBronstein, Adolfo论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandFratta, Pietro论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandMarques, Wilson J.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Neurol, Ribeirao Preto, Brazil UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 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 Natl Hosp Neurol & Neurosurg, 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 Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Neurogenet Lab, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
- [27] Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel ConformationsFRONTIERS IN GENETICS, 2019, 10Akcimen, Fulya论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, CanadaRoss, Jay P.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, CanadaBourassa, Cynthia, V论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, CanadaLiao, Calwing论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, CanadaRochefort, Daniel论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, CanadaDrumond Gama, Maria Thereza论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Neurol, Div Gen Neurol, Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Neurol, Ataxia Unit, Sao Paulo, SP, Brazil McGill Univ, Dept Human Genet, Montreal, PQ, CanadaDicaire, Marie-Josee论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, CanadaBarsottini, Orlando G.论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Neurol, Div Gen Neurol, Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Neurol, Ataxia Unit, Sao Paulo, SP, Brazil McGill Univ, Dept Human Genet, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Pedroso, Jose Luiz论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Sao Paulo UNIFESP, Dept Neurol, Div Gen Neurol, Sao Paulo, SP, Brazil Fed Univ Sao Paulo UNIFESP, Dept Neurol, Ataxia Unit, Sao Paulo, SP, Brazil McGill Univ, Dept Human Genet, Montreal, PQ, CanadaDion, Patrick A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada
- [28] Late-onset ataxia due to RFC1 repeat expansion: a multicentric national studyEUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 366 - 366Malaquias, M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalBraz, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalDamasio, J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalGarcez, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Prof Doutor Fernando da Fonseca, Dept Neurol, Amadora, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalMarques, B.论文数: 0 引用数: 0 h-index: 0机构: Inst Portugues Oncol Francisco Gentil, Dept Neurol, Lisbon, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalCaetano, A.论文数: 0 引用数: 0 h-index: 0机构: Inst Portugues Oncol Francisco Gentil, Dept Neurol, Lisbon, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalPaula, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalAires, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalVelon, A.论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Vila Real, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalSousa, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalRamos Alves, M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalCosta, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Prof Doutor Fernando da Fonseca, Dept Neurol, Amadora, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalRosado Coelho, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Setubal, Dept Neurol, Setubal, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalBrandao, E.论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Santa Maria Feira, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalNadais, G.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sao Joao, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalGuimaraes, J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalMendes, M.论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Vila Real, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalVila Cha, N.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalAbreu, P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalCastro, P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalBarbosa, R.论文数: 0 引用数: 0 h-index: 0机构: Inst Portugues Oncol Francisco Gentil, Dept Neurol, Lisbon, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalTaipa, R.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalAraujo, R.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sao Joao, Dept Neurol, Porto, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalPimentel, T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal Inst Portugues Oncol Francisco Gentil, Dept Neurol, Lisbon, Portugal Ctr Hosp Univ Porto, Dept Neurol, Porto, PortugalMagalhaes, M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Dept Neurol, Porto, Portugal
- [29] Biallelic Expansion of an Intronic Repeat in the RFC1 Gene in a Sample of Brazilian Citizens: a Genetic StudyJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (03) : 413 - 413Bueno, Manoella论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, BrazilTomaselli, Pedro论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Ctr Neuromuscular Dis, London, England Univ Sao Paulo, Sao Paulo, BrazilFigueiredo, Fernanda论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, BrazilJunior, Wilson论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, Brazil
- [30] Chronic idiopathic axonal polyneuropathy revisitedJOURNAL OF NEUROLOGY, 2004, 251 (09) : 1128 - 1132Rosenberg, NR论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DE Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DE Amsterdam, NetherlandsVermeulen, M论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DE Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DE Amsterdam, Netherlands