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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] Clinical and pathological characterization of RFC1 AAGGG expansion presenting as chronic axonal polyneuropathyJOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429Tagliapietra, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyCardellini, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyFerrarini, Moreno论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, 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, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyMonaco, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyCavallaro, Tiziana论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, ItalyFabrizi, 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 Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy
- [3] Biallelic Replication Factor C subunit 1 (RFC1) repeat expansion mutation is highly frequent in sensory Chronic Idiopathic Axonal PolyneuropathyJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (03) : 328 - 329Tagliapietra, Matteo论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, ItalyCardellini, Davide论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, ItalyFerrarini, Moreno论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, ItalyTesti, Silvia论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, ItalyFerrari, Sergio论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, ItalyMonaco, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, ItalyCavallaro, Tiziana论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, ItalyFabrizi, Gian Maria论文数: 0 引用数: 0 h-index: 0机构: Dept Neurosci Biomed & Motor Sci, Verona, Italy Dept Neurosci Biomed & Motor Sci, Verona, Italy
- [4] RFC1 CANVAS: pathogenic AAGGG repeat expansion frequency - CGC Genetics Unilabs overviewEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 213 - 214Lameiras, Ligia论文数: 0 引用数: 0 h-index: 0机构: CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, PortugalSilva, Tiago论文数: 0 引用数: 0 h-index: 0机构: CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, PortugalTeixeira, Marisa论文数: 0 引用数: 0 h-index: 0机构: CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, PortugalSalgado, Isa论文数: 0 引用数: 0 h-index: 0机构: CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, PortugalCerqueira, Rita论文数: 0 引用数: 0 h-index: 0机构: CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, PortugalSa, Joaquim论文数: 0 引用数: 0 h-index: 0机构: CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal CGC Genet, Unilabs Mol Diagnost & Clin Genom, Porto, Portugal
- [5] 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
- [6] No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSAPARKINSONISM & RELATED DISORDERS, 2020, 73 : 1 - 2Fan, Yu论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaZhang, Shuo论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaYang, Jing论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaMao, Cheng-yuan论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaYang, Zhi-hua论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaHu, Zheng-wei论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaWang, Yan-lin论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaLiu, Yu-tao论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaLiu, Han论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaYuan, Yan-peng论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaShi, Chang-he论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R ChinaXu, Yu-ming论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China
- [7] NO ASSOCIATION BETWEEN RFC1 REPEAT EXPANSION AND INFLAMMATORY NEUROPATHIESJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S99 - S99Nagy, Sara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, EnglandCarr, Aisling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, Ctr Neuromuscular Dis, Queen Sq, London, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandLunn, Michael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, Ctr Neuromuscular Dis, Queen Sq, London, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandReilly, Mary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, Ctr Neuromuscular Dis, Queen Sq, London, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandManji, Hadi论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, Queen Sq, London, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandCurro, 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, EnglandMagrinelli, Francesca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, EnglandO'Connor, Emer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, EnglandJapzon, Nicole论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, Queen Sq, London, England 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 Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, Queen Sq, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy 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, Ctr Neuromuscular Dis, Queen Sq, London, England UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
- [8] RFC1 gene intronic repeat expansion and unexplained chronic cough: A pathophysiological conundrumDearRESPIRATORY MEDICINE AND RESEARCH, 2021, 80Fargeot, G.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Neurophysiol Dept, Paris, France Hop La Pitie Salpetriere, AP HP, Neurophysiol Dept, Paris, FranceHumbert, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Hop Bicetre, AP HP, Inserm U999,Serv Pneumol & Soins Intensifs Resp, Le Kremlin Bicetre, France Hop La Pitie Salpetriere, AP HP, Neurophysiol Dept, Paris, France论文数: 引用数: h-index:机构:
- [9] No association between RFC1 repeat expansion and inflammatory neuropathiesEUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 826 - 826Nagy, 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, Dept Neurol, Univ Hosp Basel, Basel, Switzerland UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandCarr, A.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, Ctr Neuromuscular Dis, Queen Sq, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandLunn, 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, Ctr Neuromuscular Dis, Queen Sq, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandReilly, 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, Ctr Neuromuscular Dis, Queen Sq, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, EnglandManji, H.论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, Queen Sq, 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, 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, EnglandMagrinelli, F.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, EnglandConnor, E. O.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, EnglandJapzon, N.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, Ctr Neuromuscular Dis, Queen Sq, 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 Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, Queen Sq, London, England Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy 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 Natl Hosp Neurol & Neurosurg, Ctr Neuromuscular Dis, Queen Sq, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
- [10] 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: