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- [21] Preimplantation genetic diagnosis for spinal muscular atrophy type INEUROLOGY, 1999, 53 (05) : 1087 - 1090Fallon, L论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USAHarton, GL论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USASisson, ME论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USARodriguez, E论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USAField, LK论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USAFugger, EF论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USAGeltinger, M论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USASun, Y论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USADorfmann, A论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USASchoener, C论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USABick, D论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USASchulman, J论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USALevinson, G论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USABlack, SH论文数: 0 引用数: 0 h-index: 0机构: Genet & IVF Inst, Fairfax, VA 22031 USA
- [22] The influence of genotype on the natural history of types 1-3 spinal muscular atrophyNEUROMUSCULAR DISORDERS, 2025, 47Sutherland, C. Simone论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Global Access, Basel, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandSchneider, Sophie论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Pharma Personalized Healthcare, Basel, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandRibero, Valerie Aponte论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Global Access, Basel, Switzerland Univ Bern, Inst Primary Hlth Care BIHAM, CH-3012 Bern, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandSimpson, Alex论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Global Access, Basel, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandKokaliaris, Christos论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Global Access, Basel, Switzerland Swiss Trop & Publ Hlth Inst, Dept Epidemiol & Publ Hlth, Basel, Switzerland Univ Basel, Basel, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandScalco, Renata S.论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Pharma Dev Neurol, Basel, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandGuittari, Carol Jean论文数: 0 引用数: 0 h-index: 0机构: Genentech Inc, PDMA Neurosci & Rare Dis, South San Francisco, CA USA F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandGorni, Ksenija论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, PDMA Neurosci & Rare Dis, Basel, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandDe Vivo, Darryl C.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ Irving Med Ctr, Dept Neurol, New York, NY USA Columbia Univ Irving Med Ctr, Dept Pediat, New York, NY USA F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandMartens, William B.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Sch Med & Dent, Dept Neurol, Rochester, NY USA F Hoffmann La Roche Ltd, Global Access, Basel, SwitzerlandKarrer, Teresa M.论文数: 0 引用数: 0 h-index: 0机构: F Hoffmann La Roche Ltd, Pharma Personalized Healthcare, Basel, Switzerland F Hoffmann La Roche Ltd, Global Access, Basel, Switzerland
- [23] Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort studyOrphanet Journal of Rare Diseases, 17Esther S. Veldhoen论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalCamiel A. Wijngaarde论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalErik H. J. Hulzebos论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalRoelie M. Wösten-van Asperen论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalRenske I. Wadman论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalRuben P. A. van Eijk论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalFay Lynn Asselman论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalMarloes Stam论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalLouise A. M. Otto论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalInge Cuppen论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalFeline E. V. Scheijmans论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalLaura P. Verweij-van den Oudenrijn论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalBart Bartels论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalMichael A. Gaytant论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalCornelis K. van der Ent论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s HospitalW. Ludo van der Pol论文数: 0 引用数: 0 h-index: 0机构: Utrecht University,Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children’s Hospital
- [24] Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort studyORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)Veldhoen, Esther S.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsWijngaarde, Camiel A.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsHulzebos, Erik H. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Child Dev & Exercise Ctr, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsWosten-van Asperen, Roelie M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsWadman, Renske, I论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlandsvan Eijk, Ruben P. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Biostat & Res Support, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsAsselman, Fay Lynn论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlands论文数: 引用数: h-index:机构:Otto, Louise A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlands论文数: 引用数: h-index:机构:Scheijmans, Feline E., V论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsVerweij-van den Oudenrijn, Laura P.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsBartels, Bart论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Child Dev & Exercise Ctr, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, NetherlandsGaytant, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Ctr Home Mech Ventilat, Dept Pulmonol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlandsvan der Ent, Cornelis K.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Pulmonol, ERN LUNG, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlandsvan der Pol, W. Ludo论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Intens Care, POB 85090, NL-3508 AB Utrecht, Netherlands
- [25] Body mass index in type 2 spinal muscular atrophy: a longitudinal studyEUROPEAN JOURNAL OF PEDIATRICS, 2022, 181 (05) : 1923 - 1932Ferrantini, Gloria论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyCoratti, Giorgia论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyOnesimo, Roberta论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Unit, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyLucibello, Simona论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyBompard, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyTurrini, Ida论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyCicala, Graziamaria论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyCaprarelli, Michela论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyPera, Maria Carmela论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyBravetti, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyBerti, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyGiorgio, Valentina论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Unit, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyBruno, Claudio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Ctr Expt & Translat Myol, Genoa, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyBrolatti, Noemi论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Ctr Expt & Translat Myol, Genoa, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyPanicucci, Chiara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Ctr Expt & Translat Myol, Genoa, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyD'Amico, Adele论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyLongo, Antonella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyLeoni, Chiara论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Unit, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalySansone, Valeria A.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Niguarda Hosp, Neuromuscular Omnictr Clin Ctr, Neurorehabil Unit, Milan, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyAlbamonte, Emilio论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Niguarda Hosp, Neuromuscular Omnictr Clin Ctr, Neurorehabil Unit, Milan, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy论文数: 引用数: h-index:机构:Sframeli, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Dept Clin & Expt Med, Messina, Italy Univ Messina, Ctr Clin Nemo Sud, Messina, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyPane, Marika论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, ItalyMercuri, Eugenio论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy
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