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- [21] Clinical outcome study of dysferlinopathy: gait analysis of siblings and phenotype variationNEUROMUSCULAR DISORDERS, 2022, 32 : S116 - S116论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Wong, K.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Straub, V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Hosp NHS, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandMayhew, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England
- [22] ESCO-natural history study: A multistakeholder approach to clinical trial readiness in STXBP1-related disordersEPILEPSIA, 2024, 65 : 314 - 315Balagura, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy ERN EpiCARE, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyStamberger, H.论文数: 0 引用数: 0 h-index: 0机构: VIB, Ctr Mol Neurol, Appl & Translat Neurogen Grp, Antwerp, Belgium Antwerp Univ Hosp, Dept Neurol, Antwerp, Belgium Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyFuria, F.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyPadilla, A. Soto论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, IXA Amsterdam Neurosci, Amsterdam, Netherlands Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBen Zeev, B.论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Pediat Neurol Unit, Ramat Gan, Israel Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyBruining, H.论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, N You Neurodev Precis Ctr, Child & Adolescent Psychiat & Psychosocial Care, Amsterdam, Netherlands Vrije Univ Amsterdam, Child & Adolescent Psychiat & Psychosocial Care, Emma Childrens Hosp, Amsterdam, Netherlands Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyDarling, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Neurometabol Unit, Barcelona, Spain Inst Recerca St Joan de Deu, Synapt Metab & Personalized Therapies Lab, Dept Neurol, Barcelona, Spain MetabERN, Barcelona, Spain Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyGarcia-Cazorla, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Neurometabol Unit, Barcelona, Spain Inst Recerca St Joan de Deu, Synapt Metab & Personalized Therapies Lab, Dept Neurol, Barcelona, Spain MetabERN, Barcelona, Spain CIBERER Spanish Biomed Res Ctr Rare Dis, Barcelona, Spain Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy论文数: 引用数: h-index:机构:Milh, M.论文数: 0 引用数: 0 h-index: 0机构: AP HM, Dept Pediat Neurol, Marseille, France Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyMisra-Isrie, M.论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, Dept Human Genet, Clin Genet Sect, Amsterdam, Netherlands Amsterdam UMC, Ctr Neurogen & Cognit Res, Dept Human Genet, Funct Genom, Amsterdam, Netherlands Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyMoller, R. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Precis Med, Dianalund, Denmark ERN EpiCARE, Dianalund, Denmark Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyStriano, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy ERN EpiCARE, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalySyrbe, S.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Med Fac Heidelberg, Ctr Child & Adolescent Med, Div Pediat Epileptol, Heidelberg, Germany Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyThalwitzer, K.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Med Fac Heidelberg, Ctr Child & Adolescent Med, Div Pediat Epileptol, Heidelberg, Germany Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyVerhage, M.论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, Funct Genom Dept, Ctr Neurogen & Cognit Res, Amsterdam, Netherlands Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, ItalyWeckhuysen, S.论文数: 0 引用数: 0 h-index: 0机构: VIB, Ctr Mol Neurol, Appl & Translat Neurogen Grp, Antwerp, Belgium Antwerp Univ Hosp, Dept Neurol, Antwerp, Belgium Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy
- [23] Clinical outcome study for dysferlinopathy: One-year follow-upNEUROMUSCULAR DISORDERS, 2016, 26 : S92 - S93Paradas, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen del Rocio, Seville, Spain Hosp Univ Virgen del Rocio, Seville, Spain论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Mayhew, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Hosp Univ Virgen del Rocio, Seville, SpainAzzabou, N.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Hosp Univ Virgen del Rocio, Seville, SpainTorron, R. Fernandez论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Hosp Univ Virgen del Rocio, Seville, SpainReyngoudt, H.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Hosp Univ Virgen del Rocio, Seville, Spain论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Bettinson, K.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Hosp Univ Virgen del Rocio, Seville, SpainHilsden, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Hosp Univ Virgen del Rocio, Seville, SpainJacobs, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Washington, DC USA Hosp Univ Virgen del Rocio, Seville, SpainFeng, J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Washington, DC USA Hosp Univ Virgen del Rocio, Seville, SpainCnaan, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Washington, DC USA Hosp Univ Virgen del Rocio, Seville, SpainRufibach, L.论文数: 0 引用数: 0 h-index: 0机构: Jain Fdn, Seattle, WA USA Hosp Univ Virgen del Rocio, Seville, SpainEagle, M.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Hosp Univ Virgen del Rocio, Seville, Spain论文数: 引用数: h-index:机构:Carlier, P.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Hosp Univ Virgen del Rocio, Seville, SpainBushby, K.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Hosp Univ Virgen del Rocio, Seville, Spain
- [24] LAST STRONG: LAMA2 and SELENON to study trial readiness, outcome measures and natural historyNEUROMUSCULAR DISORDERS, 2021, 31 : S70 - S70Bouman, K.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, Nijmegen, NetherlandsGroothuis, J.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, Nijmegen, NetherlandsDoorduin, J.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, Nijmegen, Netherlandsvan Alfen, N.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, Nijmegen, Netherlandsten Cate, F. Udink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, Nijmegen, Netherlandsvan den Heuvel, F.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, Nijmegen, NetherlandsNijveldt, R.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, Nijmegen, Netherlandsvan Tilburg, W.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, Nijmegen, NetherlandsBuckens, S.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, Nijmegen, NetherlandsDittrich, A.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, Nijmegen, NetherlandsDraaisma, J.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, Nijmegen, NetherlandsJanssen, M.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, Nijmegen, NetherlandsKamsteeg, E.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, Nijmegen, Netherlandsvan Kleef, E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Maastricht Univ, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsSmeitink, J.论文数: 0 引用数: 0 h-index: 0机构: Khondrion BV, Nijmegen, Netherlands Maastricht Univ, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlandsvan Tienen, F.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsSmeets, H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlandsvan Engelen, B.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, Nijmegen, NetherlandsErasmus, C.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, Nijmegen, NetherlandsVoermans, N.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, Nijmegen, Netherlands
- [25] Clinical outcome study of dysferlinopathy: Lower limb water T2 predicts functional decline in patients with dysferlinopathyNEUROMUSCULAR DISORDERS, 2022, 32 : S115 - S115论文数: 引用数: h-index:机构:Araujo, E. Caldas de Almeida论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandReyngoudt, H.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandGordish-Dressman, H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Washington, DC USA Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:James, M.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Hosp, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandMayhew, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Hosp, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandRufibach, L.论文数: 0 引用数: 0 h-index: 0机构: Jain Fdn, Seattle, WA USA Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Straub, V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandCarlier, P.论文数: 0 引用数: 0 h-index: 0机构: CEA, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandManera, J. Diaz论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England
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- [29] The clinical outcome study for dysferlinopathy: quantitative MRI and physiotherapy outcomes to capture disease progressionNEUROMUSCULAR DISORDERS, 2019, 29 : S103 - S103论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Reyngoudt, H.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Mayhew, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandFernandez-Torron, R.论文数: 0 引用数: 0 h-index: 0机构: Biodonostia, San Sebastian, Spain Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandAraujo, E.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Carlier, P.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandStraub, V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England
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