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- [41] Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1NEUROLOGICAL SCIENCES, 2021, 42 (02) : 749 - 753Malaquias, Maria Joao论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalMendes Pinto, Catarina论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Neurorradiol Dept, Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalSardoeira, Ana论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalOliveira, Jorge论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Inst Mol & Cell Biol IBMC, Inst Invest & Inovacao Saude I3S, Ctr Predict & Prevent Genet CGPP, Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalParente Freixo, Joao论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Inst Mol & Cell Biol IBMC, Inst Invest & Inovacao Saude I3S, Ctr Predict & Prevent Genet CGPP, Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalAires Silva, Ana论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sao Joao, Neurol Dept, Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalAbreu, Pedro论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Sao Joao, Neurol Dept, Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalRosado Coelho, Cristina论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Setubal, Neurol Dept, Lisbon, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalDamasio, Joana论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalVila-Cha, Nuno论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, PortugalMagalhaes, Marina论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, Portugal Ctr Hosp Tamega & Sousa, Hosp Padre Amer, Neurol Dept, Porto, Portugal Ctr Hosp Univ Porto, Neurol Dept, P-40990010 Porto, Portugal
- [42] Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1Neurological Sciences, 2021, 42 : 749 - 753Maria João Malaquias论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentCatarina Mendes Pinto论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentAna Sardoeira论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentJorge Oliveira论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentJoão Parente Freixo论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentAna Aires Silva论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentPedro Abreu论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentCristina Rosado Coelho论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentJoana Damásio论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentNuno Vila-Chã论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology DepartmentMarina Magalhães论文数: 0 引用数: 0 h-index: 0机构: Centro Hospitalar Universitário do Porto,Neurology Department
- [43] Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia FamiliesMOVEMENT DISORDERS, 2023, 38 (08) : 1555 - 1556van de Pol, Milo论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsO'Gorman, Luke论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsCorominas-Galbany, Jordi论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsCliteur, Maaike论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsDerks, Ronny论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsVerbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan de Warrenburg, Bart论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
- [44] Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxiaJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2020, 91 (11): : 1233 - 1234Van Daele, Sien Hilde论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium Katholieke Univ Leuven, Dept Neurosci, Leuven, Flanders, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Flanders, Belgium VIB, Ctr Brain & Dis Res, Leuven, Flanders, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, BelgiumVermeer, Sascha论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Ctr Human Genet, Leuven, Flanders, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, BelgiumVan Eesbeeck, Amelie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Ctr Human Genet, Leuven, Flanders, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, BelgiumLannoo, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, BelgiumRace, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Ctr Human Genet, Leuven, Flanders, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgiumvan Damme, Philip论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium Katholieke Univ Leuven, Dept Neurosci, Leuven, Flanders, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Flanders, Belgium VIB, Ctr Brain & Dis Res, Leuven, Flanders, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, BelgiumClaeys, Kristl论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium Katholieke Univ Leuven, Dept Neurosci, Leuven, Flanders, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Flanders, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, BelgiumVandenberghe, Wim论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium Katholieke Univ Leuven, Dept Neurosci, Leuven, Flanders, Belgium Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Flanders, Belgium Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium
- [45] NONSENSE MUTATIONS IN RFC1 CAUSE CEREBELLAR ATAXIA, NEUROPATHY VESTIBULAR AREFLEXIA SYNDROME (CANVAS)JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S32 - S32Ronco, Riccardo论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandPerini, Cecilia论文数: 0 引用数: 0 h-index: 0机构: CNR Luigi Luca Cavalli Sforza, Inst Mol Genet IGM, Pavia, Italy UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandCurro, Riccardo论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandDominik, Natalia论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandFacchini, Stefano论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandGennari, Alice论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandSimone, Roberto论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandStuart, Skye论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandNagy, Sara论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England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, Pavia, Italy UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandEl-saddig, Amar论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Hosp, Northern Care Alliance NHS Fdn Trust, Manchester, Lancs, England Manchester Ctr Clin Neurosci, Salford, Lancs, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandLavin, Tim论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Hosp, Northern Care Alliance NHS Fdn Trust, Manchester, Lancs, England Manchester Ctr Clin Neurosci, Salford, Lancs, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandTucci, Arianna论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandWood, Nick W.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandCrespan, Emmanuele论文数: 0 引用数: 0 h-index: 0机构: CNR Luigi Luca Cavalli Sforza, Inst Mol Genet IGM, Pavia, Italy UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, 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, Lancs, England Manchester Ctr Clin Neurosci, Salford, Lancs, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, EnglandCortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England UCL, Inst Neurol, Dept Neuromuscular Dis, Queen Sq, London, England
- [46] Patients with Cerebellar Ataxia, Vestibular Areflexia and Neuronopathy Syndrome (CANVAS) of Polynesian ancestry have a novel conformation of their RFC1 repeat.EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 369 - 369Beecroft, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, Australia Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaCortese, A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaSullivan, R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaYau, W. Y.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaDyer, Z.论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol, Auckland, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaWu, T.论文数: 0 引用数: 0 h-index: 0机构: Christchurch Hosp, Neurol Dept, Christchurch, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaMulroy, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaPelosi, L.论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol, Auckland, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaRodrigues, M.论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol, Auckland, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaTaylor, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Auckland, Ctr Brain Res Neurogenet, Res Clin, Auckland, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaMossman, S.论文数: 0 引用数: 0 h-index: 0机构: Wellington Hosp, Neurol, Wellington, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaLeadbetter, R.论文数: 0 引用数: 0 h-index: 0机构: Capital & Coast Dist Hlth Board, Neurol, Wellington, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaCleland, J.论文数: 0 引用数: 0 h-index: 0机构: Tauranga Hosp, Neurol Dept, Tauranga, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaAnderson, T.论文数: 0 引用数: 0 h-index: 0机构: Christchurch Hosp, Neurol Dept, Christchurch, New Zealand Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaRavenscroftl, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA, Australia Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaLaing', N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA, Australia Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaHoulden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaReilly, M. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London, England Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, AustraliaRoxburgh, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, QEII Med Ctr, Ctr Med Res, Neurogenet Dis Grp, Perth, WA, Australia
- [47] Phenotypic heterogeneity and pseudodominant inheritance of RFC1 gene expansion in a Portuguese family with CANVASEUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 655 - 655Santos Silva, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, Portugal Univ Lisbon, Inst Med Mol, Fac Med, Lisbon, Portugal Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, PortugalFalcao de Campos, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, Portugal Univ Lisbon, Inst Med Mol, Fac Med, Lisbon, Portugal Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, PortugalSoeiro e Sa, M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Genet, Lisbon, Portugal Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, PortugalFuzeta Eca, T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Otorhinolaryngol, Lisbon, Portugal Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, PortugalConceicao, I.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, Portugal Univ Lisbon, Inst Med Mol, Fac Med, Lisbon, Portugal Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, PortugalSilva, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Med Aeronaut, Forca Aerea Portuguesa, Lisbon, Portugal Ctr Hosp Univ Lisboa Norte, Dept Neurosci & Mental Hlth, Hosp Santa Maria, Lisbon, Portugal
- [48] SENSORY-MOTOR NEURONOPATHY DUE TO BIALLELIC RFC1 EXPANSIONJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2023, 28 : S32 - S33Iuzzolino, Valentina Virginia论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy论文数: 引用数: h-index:机构:Santorelli, Filippo Maria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Stella Maris Mol Med, Pisa, Italy Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy论文数: 引用数: h-index:机构:Ruggiero, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, ItalyIodice, Rosa论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [49] RFC1 REPEAT EXPANSIONS AND CANVAS: INITIAL EXPERIENCE AND PERSPECTIVES FROM A NEUROMUSCULAR DISORDERS UNITJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S121 - S121Sanchez-Tejerina, Daniel论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainFernandez-Alvarez, Paula论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainLainez, Elena论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainLlaurado, Arnau论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainSotoca, Javier论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainGratacos, Margarida论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainLuis Seoane, Jose论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainSalvado, Maria论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainGarcia Arumi, Elena论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainRaguer, Nuria论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, SpainJuntas, Raul论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Barcelona, Spain Vall dHebron Univ Hosp, Barcelona, Spain
- [50] A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesBRAIN, 2020, 143 : 2904 - 2910Scriba, Carolin K.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 QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaBeecroft, Sarah J.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 QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaClayton, Joshua S.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 QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaCortese, 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 Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaSullivan, 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 Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaYau, Wai Yan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 Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaDominik, Natalia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 Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaRodrigues, Miriam论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol Dept, Private Bag 92024, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaWalker, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol Dept, Private Bag 92024, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaDyer, Zoe论文数: 0 引用数: 0 h-index: 0机构: Auckland City Hosp, Neurol Dept, Private Bag 92024, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaWu, Teddy Y.论文数: 0 引用数: 0 h-index: 0机构: Christchurch Hosp, Dept Neurol, Christchurch, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaDavis, Mark R.论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaChandler, David C.论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, Australian Genome Res Facil, Harry Perkins Inst Med Res, Nedlands, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaWeisburd, Ben论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaHoulden, 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 Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaReilly, 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 Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaLaing, Nigel G.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 QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaLamont, Phillipa J.论文数: 0 引用数: 0 h-index: 0机构: Royal Perth Hosp, Neurogenet Unit, Perth, WA, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaRoxburgh, Richard H.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 Univ Auckland, Ctr Brain Res Neurogenet Res Clin, Auckland, New Zealand Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, AustraliaRavenscroft, 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 QEII Med Ctr, Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Western Australia, Ctr Med Res, QEII Med Ctr, Neurogenet Dis Grp, Nedlands, WA 6009, Australia