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- [1] Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3FRONTIERS IN NEUROLOGY, 2024, 15Ouyang, Shijia论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaPeng, Xiaoyin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Neurol, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaHuang, Wenchen论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaBai, Jinli论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaWang, Hong论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaJin, Yuwei论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaJiao, Hui论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Neurol, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaWei, Maoti论文数: 0 引用数: 0 h-index: 0机构: TEDA Int Cardiovasc Hosp, Ctr Clin Epidemiol, Tianjin, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaGe, Xiushan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Capital Inst Pediat, Dept Neurol, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaSong, Fang论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R ChinaQu, Yujin论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China Capital Inst Pediat, Dept Med Genet, Beijing, Peoples R China
- [2] Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophyEUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 (12) : 3666 - 3675Vazquez-Costa, Juan F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Univ Valencia, Dept Med, Valencia, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainPovedano, Monica论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Hosp IDIBELL, Neurol Dept, Motor Neuron Unit, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainNascimiento-Osorio, Andres E.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Inst Recerca Pediat, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain ISCIII, Ctr Biomed Res Rare Dis CIBERER, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainMoreno Escribano, Antonio论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Neurol Dept, Neuromuscular Unit, Murcia, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainKapetanovic Garcia, Solange论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Basurto, OSI, Neurol Dept, ALS & Neuromuscular Unit, Bilbao, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainDominguez, Raul论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Hosp IDIBELL, Neurol Dept, Motor Neuron Unit, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainExposito, Jessica M.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Inst Recerca Pediat, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainGonzalez, Laura论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Hosp IDIBELL, Neurol Dept, Motor Neuron Unit, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainMarco, Carla论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Hosp IDIBELL, Neurol Dept, Motor Neuron Unit, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainMedina Castillo, Julita论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Phisycal Med & Rehabil Dept, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainMuelas, Nuria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainNatera de Benito, Daniel论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Inst Recerca Pediat, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainNungo Garzon, Nancy Carolina论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainPitarch Castellano, Inmaculada论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainSevilla, Teresa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Univ Valencia, Dept Med, Valencia, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, SpainHervas, David论文数: 0 引用数: 0 h-index: 0机构: Univ Politecn Valencia, Dept Appl Stat & Operat Res & Qual, Valencia, Spain Hosp Univ & Politecn la Fe, IIS la Fe, Dept Neurol, Neuromuscular Unit, Valencia, Spain
- [3] COST-EFFECTIVENESS OF RISDIPLAM FOR PATIENTS WITH TYPES 1-3 SPINAL MUSCULAR ATROPHY (SMA) IN FRANCECOST-EFFECTIVENESS OF RISDIPLAM FOR PATIENTSWITH TYPES 1-3 SPINAL MUSCULAR ATROPHY (SMA) IN FRANCEVALUE IN HEALTH, 2022, 25 (12) : S87 - S87Boussahoua, M.论文数: 0 引用数: 0 h-index: 0机构: WOO Agcy, Paris 75, France WOO Agcy, Paris 75, FranceSutherland, C. S.论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Basel, Switzerland WOO Agcy, Paris 75, FranceAponte, Ribero, V论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Basel, Switzerland WOO Agcy, Paris 75, FranceEnache, R.论文数: 0 引用数: 0 h-index: 0机构: ROCHE, Boulogne, France WOO Agcy, Paris 75, FranceLe Lay, K.论文数: 0 引用数: 0 h-index: 0机构: ROCHE, Boulogne, France WOO Agcy, Paris 75, FranceLe Dissez, C.论文数: 0 引用数: 0 h-index: 0机构: ROCHE, Boulogne, France WOO Agcy, Paris 75, FranceChevalier, J.论文数: 0 引用数: 0 h-index: 0机构: WOO Agcy, Paris 75, France WOO Agcy, Paris 75, France
- [4] Respiratory outcomes before and after the introduction of nusinersen in patients with spinal muscular atrophy (Types 1-3)RESPIROLOGY, 2022, 27 : 63 - 63Gonski, K.论文数: 0 引用数: 0 h-index: 0机构: SCH, Dept Resp Med, Sydney, NSW, Australia SCH, Dept Resp Med, Sydney, NSW, AustraliaChuang, S.论文数: 0 引用数: 0 h-index: 0机构: UNSW Sydney, Sch Womens & Childrens Hlth, Sydney, NSW, Australia SCH, Dept Resp Med, Sydney, NSW, AustraliaTeng, A.论文数: 0 引用数: 0 h-index: 0机构: SCH, Sleep Med Dept, Sydney, NSW, Australia SCH, Dept Resp Med, Sydney, NSW, AustraliaThambipillay, G.论文数: 0 引用数: 0 h-index: 0机构: SCH, Sleep Med Dept, Sydney, NSW, Australia SCH, Dept Resp Med, Sydney, NSW, AustraliaFarrar, M.论文数: 0 引用数: 0 h-index: 0机构: SCH, Dept Neurol, Sydney, NSW, Australia SCH, Dept Resp Med, Sydney, NSW, AustraliaMenezes, M.论文数: 0 引用数: 0 h-index: 0机构: CHW, TY Nelson Dept Neurol & Neurosurg, Sydney, NSW, Australia SCH, Dept Resp Med, Sydney, NSW, AustraliaFitzgerald, D.论文数: 0 引用数: 0 h-index: 0机构: CHW, Resp & Sleep Med Dept, Sydney, NSW, Australia SCH, Dept Resp Med, Sydney, NSW, Australia
- [5] Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersenCNS NEUROSCIENCE & THERAPEUTICS, 2024, 30 (03)Simic, Goran论文数: 0 引用数: 0 h-index: 0机构: Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb 10000, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaVukic, Vana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaBabic, Marija论文数: 0 引用数: 0 h-index: 0机构: Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaBanovic, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaBerecic, Ivana论文数: 0 引用数: 0 h-index: 0机构: Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaSpanic, Ena论文数: 0 引用数: 0 h-index: 0机构: Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaZubcic, Klara论文数: 0 引用数: 0 h-index: 0机构: Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaGolubic, Anja Tea论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Nucl Med & Radiat Protect, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaKutija, Marija Barisic论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Ophthalmol, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaSorgic, Ana Merkler论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Lab Diagnost, Lab Mol Diagnost, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaVogrinc, Zeljka论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Lab Diagnost, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaLehman, Ivan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaHof, Patrick R.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Friedman Brain Inst, Nash Family Dept Neurosci, New York, NY USA Icahn Sch Med Mt Sinai, Ronald M Loeb Ctr Alzheimers Dis, New York, NY USA Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaSertic, Jadranka论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Lab Diagnost, Zagreb, Croatia Univ Zagreb, Dept Med Chem & Biochem, Sch Med, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, CroatiaBarisic, Nina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb, Croatia Univ Zagreb, Croatian Inst Brain Res, Dept Neurosci, Sch Med, Zagreb, Croatia
- [6] Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular AtrophyFRONTIERS IN NEUROLOGY, 2019, 10Guenther, Rene论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Dept Neurol, Dresden, Germany German Ctr Neurodegenerat Dis Dresden, Dresden, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyWurster, Claudia Diana论文数: 0 引用数: 0 h-index: 0机构: Ulm Univ, Dept Neurol, Ulm, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyCordts, Isabell论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Dept Neurol, Klinikum Rechts Isar, Munich, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyKoch, Jan Christoph论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Neurol, Gottingen, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyKamm, Christoph论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Univ Med Ctr Rostock, Dept Neurol, Rostock, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyPetzold, Daniel论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Dept Neurol, Dresden, Germany Tech Univ Dresden, Dept Neurol, Dresden, Germany论文数: 引用数: h-index:机构:Deschauer, Marcus论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Dept Neurol, Klinikum Rechts Isar, Munich, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyLingor, Paul论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Dept Neurol, Klinikum Rechts Isar, Munich, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyLudolph, Albert Christian论文数: 0 引用数: 0 h-index: 0机构: Ulm Univ, Dept Neurol, Ulm, Germany German Ctr Neurodegenerat Dis Ulm, Ulm, Germany Tech Univ Dresden, Dept Neurol, Dresden, GermanyHermann, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Univ Med Ctr Rostock, Dept Neurol, Translat Neurodegenerat Sect Albrecht Kossel, Rostock, Germany German Ctr Neurodegenerat Dis Rostock, Rostock, Germany Tech Univ Dresden, Dept Neurol, Dresden, Germany
- [7] Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3 The Phase 2 TOPAZ Study (vol 102, e209151, 2024)NEUROLOGY, 2024, 103 (01)Crawford, Thomas O.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USADarras, Basil T.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USADay, John W.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAYoung, Sally Dunaway论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USADuong, Tina论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USANelson, Leslie L.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USABarrett, Doreen论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USASong, Guochen论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USABilic, Sanela论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USACote, Shaun论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USASadanowicz, Mara论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAIarrobino, Ryan论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAXu, Tiina J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAO'Neil, Janet论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USARossello, Jose论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAPlace, Amy论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAKertesz, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USANomikos, George论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAChyung, Yung论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA