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- [21] Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter DenovoNEUROLOGY-GENETICS, 2022, 8 (03)Watanabe, Kazuki论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Neurol, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, JapanWakatsuki, Rie论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Neurol, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, JapanBunai, Tomoyasu论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Neurol, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biofunct Imaging, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, JapanOuchi, Yasuomi论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Biofunct Imaging, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, JapanNakamura, Tomohiko论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Neurol, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, JapanMiyajima, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Neurol, Hamamatsu, Shizuoka, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan论文数: 引用数: h-index:机构:
- [22] Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structuresJOURNAL OF BIOLOGICAL CHEMISTRY, 2023, 299 (10)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:Sardari, Soroush论文数: 0 引用数: 0 h-index: 0机构: Pasteur Inst Iran, Dept Med Biotechnol, Drug Design & Bioinformat Unit, Tehran, Iran Amirkabir Univ Technol, Tehran Polytech, Dept Chem Engn, Tehran, IranPearson, Christopher E.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Program Mol Genet, Toronto, ON, Canada Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Program Genet & Genome Biol, Toronto, ON, Canada Amirkabir Univ Technol, Tehran Polytech, Dept Chem Engn, Tehran, Iran
- [23] AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neuronsSCIENCE ADVANCES, 2024, 10 (36):Maltby, Connor J.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAKrans, Amy论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Ann Arbor Vet Adm Healthcare, Ann Arbor, MI 48105 USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAGrudzien, Samantha J.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Neurosci Grad Program, Ann Arbor, MI USA Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAPalacios, Yomira论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Postbaccalaureate Res Educ Program, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAMuinos, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, UM SMART Undergrad Summer Program, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USASuarez, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Postbaccalaureate Res Educ Program, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAAsher, Melissa论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAWilley, Sydney论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Neurosci Grad Program, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAVan Deynze, Kinsey论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAMumm, Camille论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USABoyle, Alan P.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI USA Harvard Med Sch, Boston, MA USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USACortese, Andrea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 Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USANdayisaba, Alain论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Neurol, Boston, MA USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USAKhurana, Vikram论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Neurol, Boston, MA USA Harvard Med Sch, Boston, MA USA Broad Inst MIT & Harvard, Harvard Stem Cell Inst, Cambridge, MA USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USABarmada, Sami J.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USADijkstra, Anke A.论文数: 0 引用数: 0 h-index: 0机构: Amsterdam Neurosci, Dept Pathol, Amsterdam UMC, Amsterdam, Netherlands Univ Amsterdam, Swammerdam Inst Life Sci, Amsterdam, Netherlands Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USATodd, Peter K.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA Ann Arbor Vet Adm Healthcare, Ann Arbor, MI 48105 USA Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
- [24] 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
- [25] 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
- [26] Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral VestibulopathyNEUROLOGY, 2023, 101 (10) : E1001 - E1013Traschuetz, Andreas论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, Germany Univ Tubingen, Ctr Neurol, Tubingen, Germany Univ Tubingen, German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyHeindl, Felix论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, German Ctr Vertigo & Balance Disorders, Munich, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyBilal, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Med Univ Vienna, Comprehens Ctr Clin Neurosci & Mental Hlth C3NMH, Dept Psychiat & Psychotherapy, Vienna, Austria Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyHartmann, Annette M.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyDufke, Claudia论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Comprehens Ctr Clin Neurosci & Mental Hlth C3NMH, Dept Psychiat & Psychotherapy, Vienna, Austria Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyRiess, Olaf论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Comprehens Ctr Clin Neurosci & Mental Hlth C3NMH, Dept Psychiat & Psychotherapy, Vienna, Austria Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyZwergal, Andreas论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, German Ctr Vertigo & Balance Disorders, Munich, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyRujescu, Dan论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyHaack, Tobias论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Comprehens Ctr Clin Neurosci & Mental Hlth C3NMH, Dept Psychiat & Psychotherapy, Vienna, Austria Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanySynofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, Germany Univ Tubingen, Ctr Neurol, Tubingen, Germany Univ Tubingen, German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, GermanyStrupp, Michael论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, German Ctr Vertigo & Balance Disorders, Munich, Germany Hertie Inst Clin Brain Res, Res Div Translat Genom Neurodegenerat Dis, Tubingen, Germany
- [27] 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
- [28] CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansionBRAIN, 2020, 143 : 386 - 390Paisan-Ruiz, Coro论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Neurol, Div Neurootol & Neurogenet, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Neurol, Div Neurootol & Neurogenet, New York, NY 10029 USAJen, Joanna C.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Neurol, Div Neurootol & Neurogenet, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Neurol, Div Neurootol & Neurogenet, New York, NY 10029 USA
- [29] Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisBRAIN, 2023, 146 (12) : 5060 - 5069Dominik, Natalia论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandMagri, Stefania论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, I-20133 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandCurro, Riccardo论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, England论文数: 引用数: h-index:机构:Facchini, Stefano论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England IRCCS Mondino Fdn, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandCorbetta, Marinella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, I-20133 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandMacpherson, Hannah论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandDi Bella, Daniela论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, I-20133 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandSarto, Elisa论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, I-20133 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandStevanovski, Igor论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Genom Pillar, Sydney 2010, Australia Garvan Inst Med Res, Ctr Populat Genom, Darlinghurst 2010, Australia Murdoch Childrens Res Inst, Darlinghurst 2010, Australia UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandChintalaphani, Sanjog R.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Ctr Populat Genom, Darlinghurst 2010, Australia Murdoch Childrens Res Inst, Darlinghurst 2010, Australia UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandAkcimen, Fulya论文数: 0 引用数: 0 h-index: 0机构: NIA, Lab Neurogenet, NIH, Bethesda, MD USA UCL, Dept Neuromuscular Dis, London WC1N 3BG, England论文数: 引用数: h-index:机构:Vegezzi, Elisa论文数: 0 引用数: 0 h-index: 0机构: IRCCS Mondino Fdn, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandQuartesan, 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, Dept Neuromuscular Dis, London WC1N 3BG, EnglandMontgomery, Kylie-Ann论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandPirota, Valentina论文数: 0 引用数: 0 h-index: 0机构: CNR Luigi Luca Cavalli Sforza, Inst Mol Genet IGM, I-27100 Pavia, Italy Univ Pavia, Dept Chem, I-27100 Pavia, Italy USERN, INTERACT G4, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandCrespan, Emmanuele论文数: 0 引用数: 0 h-index: 0机构: CNR Luigi Luca Cavalli Sforza, Inst Mol Genet IGM, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandPerini, Cecilia论文数: 0 引用数: 0 h-index: 0机构: CNR Luigi Luca Cavalli Sforza, Inst Mol Genet IGM, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandGrupelli, Glenda Paola论文数: 0 引用数: 0 h-index: 0机构: CNR Luigi Luca Cavalli Sforza, Inst Mol Genet IGM, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, 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, BR-2650 Ribeirao Preto, Brazil UCL, 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-2650 Ribeirao Preto, Brazil UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandShaw, Joseph论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandPolke, James论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandSalsano, Ettore论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn, Clin Cent & Peripheral Degenerat, Neuropathies Unit, C Besta Neurol Inst, I-20126 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandFenu, Silvia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn, Clin Cent & Peripheral Degenerat, Neuropathies Unit, C Besta Neurol Inst, I-20126 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandPareyson, Davide论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn, Clin Cent & Peripheral Degenerat, Neuropathies Unit, C Besta Neurol Inst, I-20126 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandPisciotta, Chiara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn, Clin Cent & Peripheral Degenerat, Neuropathies Unit, C Besta Neurol Inst, I-20126 Milan, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandTofaris, George K.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandNemeth, Andrea H.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford OX3 7HE, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandEaling, John论文数: 0 引用数: 0 h-index: 0机构: Salford Royal NHS Fdn Trust, Manchester Ctr Clin Neurosci Salford, Greater Manchester Neurosci Ctr, Manchester M6 8HD, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandRadunovic, Aleksandar论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Barts MND Ctr, London E1 1BB, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandKearney, Seamus论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Dept Neurol, Belfast BT12 6BA, North Ireland UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandKumar, Kishore R.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Concord Hosp, Mol Med Lab, Concord, NSW 2139, Australia Univ Sydney, Fac Med & Hlth, Concord Clin Sch, Sydney, NSW 2139, Australia UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandVucic, Steve论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Concord Clin Sch, Sydney, NSW 2139, Australia Concord Hosp, Brain & Nerve Res Ctr, Sydney, NSW 2139, Australia UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandKennerson, Marina论文数: 0 引用数: 0 h-index: 0机构: Concord Hosp, Mol Med Lab, Concord, NSW 2139, Australia ANZAC Res Inst SLHD, Northcott Neurosci Lab, Sydney, NSW 2050, Australia Univ Sydney, Fac Med & Hlth, Sch Med Sci, Sydney, NSW 2050, Australia UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandDeveson, Ira论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Genom Pillar, Sydney 2010, Australia UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandTucci, Arianna论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandTaroni, Franco论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, EnglandCortese, Andrea论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London WC1N 3BG, England Univ Pavia, Dept Brain & Behav Sci, I-27100 Pavia, Italy UCL, Dept Neuromuscular Dis, London WC1N 3BG, England
- [30] 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