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- [21] Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1-/- mouse model of collagen VI-related myopathiesCLINICAL AND TRANSLATIONAL MEDICINE, 2024, 14 (07):Calabro, Sonia论文数: 0 引用数: 0 h-index: 0机构: Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy Univ Padua, Dept Biol, Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyNogara, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy Venetian Inst Mol Med, Padua, Italy Univ Padua, Dept Pharmaceut & Pharmacol Sci, Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyJian, Yongzhi论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyValentin, Manuel论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyBizzotto, Dario论文数: 0 引用数: 0 h-index: 0机构: Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyBraghetta, Paola论文数: 0 引用数: 0 h-index: 0机构: Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyRusso, Loris论文数: 0 引用数: 0 h-index: 0机构: Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyGambarotto, Lisa论文数: 0 引用数: 0 h-index: 0机构: Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyBlaauw, Bert论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy Venetian Inst Mol Med, Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyHashemolhosseini, Said论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyBonaldo, Paolo论文数: 0 引用数: 0 h-index: 0机构: Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, ItalyCescon, Matilde论文数: 0 引用数: 0 h-index: 0机构: Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy Padova Univ, Dept Mol Med, Via Ugo Bassi 58-B, I-35131 Padua, Italy
- [22] Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner patternNEUROMUSCULAR DISORDERS, 2010, 20 (08) : 517 - 523Deconinck, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, Belgium Univ Paris 06, Inst Myol, Fac Med, Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumDion, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris VII Denis Diderot, Hop Louis Mourier, AP HP, Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumBen Yaou, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Inst Myol, Fac Med, Paris, France Univ Paris 06, UPMC, Inst Myol, UM 76,IFR 14, F-75013 Paris, France CNRS, UMR7215, F-75013 Paris, France INSERM, U974, F-75013 Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, Belgium论文数: 引用数: h-index:机构:Eymard, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Inst Myol, Fac Med, Paris, France Paris Est, Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Neuromusculaire, Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumBrinas, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UPMC, Inst Myol, UM 76,IFR 14, F-75013 Paris, France CNRS, UMR7215, F-75013 Paris, France INSERM, U974, F-75013 Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumPayan, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Inst Myol, Fac Med, Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumVoit, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Inst Myol, Fac Med, Paris, France Univ Paris 06, UPMC, Inst Myol, UM 76,IFR 14, F-75013 Paris, France CNRS, UMR7215, F-75013 Paris, France INSERM, U974, F-75013 Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumGuicheney, P.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, INSERM UPMC, UMR S956, F-75634 Paris, France Univ Paris 06, UPMC, UMR 5956, IFR14, F-75013 Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, Belgium论文数: 引用数: h-index:机构:Allamand, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UPMC, Inst Myol, UM 76,IFR 14, F-75013 Paris, France CNRS, UMR7215, F-75013 Paris, France INSERM, U974, F-75013 Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumBonne, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UPMC, Inst Myol, UM 76,IFR 14, F-75013 Paris, France CNRS, UMR7215, F-75013 Paris, France INSERM, U974, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet, Serv Biochim Metabol, F-75013 Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, BelgiumStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Paris Est, Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Neuromusculaire, Paris, France Univ Libre Bruxelles, Clin Neurol, Hop Univ Enfants Reine Fabiola, Brussels, Belgium
- [23] Long-term motor function in collagen VI-related myopathies is associated with the maximal motor ability achieved: a classification proposalNEUROMUSCULAR DISORDERS, 2018, 28 : S130 - S130Natera-de Benito, D.论文数: 0 引用数: 0 h-index: 0机构: UB, Hosp St Joan de Deu, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainFoley, A. R.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainDiaz-Manera, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainFink, M.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainMebrahtu, A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainMinal, J.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainDonkervoort, S.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainHu, Y.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainCuadras, D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainCarrera-Garcia, L.论文数: 0 引用数: 0 h-index: 0机构: UB, Hosp St Joan de Deu, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainAlarcon, M.论文数: 0 引用数: 0 h-index: 0机构: UB, Hosp St Joan de Deu, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainMilisenda, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainDominguez, R.论文数: 0 引用数: 0 h-index: 0机构: Inst Neuropathol, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainOlive, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Neuropathol, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainJou, C.论文数: 0 引用数: 0 h-index: 0机构: UB, Hosp St Joan de Deu, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainColomer, J.论文数: 0 引用数: 0 h-index: 0机构: UB, Hosp St Joan de Deu, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainJimenez-Mallebrera, C.论文数: 0 引用数: 0 h-index: 0机构: UB, Hosp St Joan de Deu, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, SpainBonnemann, C.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neurol Disorders, Bldg 10, Bethesda, MD 20892 USA UB, Hosp St Joan de Deu, Barcelona, SpainNascimento, A.论文数: 0 引用数: 0 h-index: 0机构: UB, Hosp St Joan de Deu, Barcelona, Spain UB, Hosp St Joan de Deu, Barcelona, Spain
- [24] Pathological spectrum of collagen VI related myopathies: Does the pathology tell us something about the disease?NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 603 - 603Jimenez-Mallebrera, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, Spain Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, SpainJou, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Anat Patol S, Barcelona, Spain Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, SpainCorbera, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Anat Patol S, Barcelona, Spain Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, SpainNascimento, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, Spain Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, Spain论文数: 引用数: h-index:机构:Sabatelli, P.论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Citomorfol Normale & Patol, I-40126 Bologna, Italy Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, SpainColomer, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, Spain Hosp San Juan Dios, Unitat Patol Neuromuscular Neurol S, Barcelona, Spain
- [25] Possible mutation dependent mechanisms for intra-familial variation of severity in Collagen VI-Related Myopathies (COL6-RM)NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 829 - 829Donkervoort, S.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USA NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USAHu, Y.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USA NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USADastgir, J.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USA NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USAMeilleur, K.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USA NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USAZou, Y.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USA NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USAFoley, A. R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London, England Great Ormond St Hosp Sick Children, London WC1N 3JH, England NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USAHarper, A.论文数: 0 引用数: 0 h-index: 0机构: Jeff Gordon Childrens Hosp, Levine Childrens Hosp, Charlotte, NC USA NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USABonnemann, C. G.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USA NINDS, NIH, Neurogenet Branch, Bethesda, MD 20892 USA
- [26] Dysregulation of the TGF-beta Pathway in Collagen VI-Related Muscular Dystrophy Predisposes Myofibers to Injury and Interferes with Muscle RegenerationANNALS OF NEUROLOGY, 2018, 84 : S215 - S215Mohassel, Payam论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USARooney, Jachinta论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAYun, Pomi论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAZou, Yaqun论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USABonnemann, Carsten G.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
- [27] Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonanceREVISTA CHILENA DE PEDIATRIA-CHILE, 2018, 89 (03): : 399 - 408Suarez, Bernardita论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, ChileLozano-Arango, Andres论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, ChileAraneda, Diego论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Diagnost Imagenes, Radiol Infantil, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, ChileCortes, Fanny论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Ctr Enfermedades Raras, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, ChileHervias, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, Chile Clin Las Condes, Ctr Med Deporte, Kinesiol, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, ChileCalcagno, Giancarlo论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, Chile Clin Las Condes, Ctr Med Deporte, Kinesiol, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, ChileOrtega, Ximena论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Diagnost Imagenes, Radiol Infantil, Santiago, Chile Clin Las Condes, Ctr Enfermedades Raras, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, ChileCastiglioni, Claudia论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, Chile Clin Las Condes, Dept Neurol Pediat, Programa Enfermedades Neuromusculares & Trastorno, Santiago, Chile
- [28] Specific CT scanner muscle pattern helps to differentiate contractural lamin A/C and collagen VI related myopathiesNEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 774 - 774Deconinck, N.论文数: 0 引用数: 0 h-index: 0机构: HUDERF, Brussels, Belgium HUDERF, Brussels, BelgiumDion, E.论文数: 0 引用数: 0 h-index: 0机构: Hop Louis Mourier, AP HP, F-92701 Colombes, France HUDERF, Brussels, BelgiumFerreiro, A.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U582, AP HP,Ctr Reference Neuromusculaire,Paris Est, Paris, France HUDERF, Brussels, BelgiumEymard, B.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U582, AP HP,Ctr Reference Neuromusculaire,Paris Est, Paris, France HUDERF, Brussels, BelgiumRichard, P.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, INSERM, U582, IFR14, Paris, France HUDERF, Brussels, BelgiumAllarriand, V.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, INSERM, U582, IFR14, Paris, France HUDERF, Brussels, BelgiumBenyaou, R.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U582, AP HP,Ctr Reference Neuromusculaire,Paris Est, Paris, France HUDERF, Brussels, BelgiumBonne, G.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, INSERM, U582, IFR14, Paris, France HUDERF, Brussels, BelgiumStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, INSERM, U582, AP HP,Ctr Reference Neuromusculaire,Paris Est, Paris, France HUDERF, Brussels, Belgium
- [29] Clinical and molecular spectrum associated with COL6A3 c.7447A>G variant: elucidating its role in Collagen VI-related myopathiesNEUROMUSCULAR DISORDERS, 2020, 30 : S105 - S106Quiles, R. Villar论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, FranceDonkevoort, S.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, Paris, Francede Becdelievre, A.论文数: 0 引用数: 0 h-index: 0机构: Henri Mondor Hosp, Creteil, France Hop La Pitie Salpetriere, Paris, FranceAllamand, V.论文数: 0 引用数: 0 h-index: 0机构: INSERM, Paris, France Hop La Pitie Salpetriere, Paris, FranceJobic, V.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, FranceUrtizberea, J.论文数: 0 引用数: 0 h-index: 0机构: Marin Hosp, Hendaye, France Hop La Pitie Salpetriere, Paris, FranceSole, G.论文数: 0 引用数: 0 h-index: 0机构: Pellegrin Hosp, Bordeaux, France Hop La Pitie Salpetriere, Paris, FranceFurby, A.论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, St Etienne, France Hop La Pitie Salpetriere, Paris, FranceCerino, M.论文数: 0 引用数: 0 h-index: 0机构: Timone Hosp, Marseille, France Hop La Pitie Salpetriere, Paris, FranceCampana-Salort, E.论文数: 0 引用数: 0 h-index: 0机构: Timone Hosp, Marseille, France Hop La Pitie Salpetriere, Paris, FranceMagot, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Nantes, France Hop La Pitie Salpetriere, Paris, FranceFerreiro, A.论文数: 0 引用数: 0 h-index: 0机构: INSERM, Paris, France Hop La Pitie Salpetriere, Paris, FranceEymard, B.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, FranceBonnemann, C.论文数: 0 引用数: 0 h-index: 0机构: NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, Paris, FranceRichard, P.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, FranceMetay, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, FranceStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, France
- [30] A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophyNEUROMUSCULAR DISORDERS, 2019, 29 : S40 - S41Bolduc, V.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAFoley, A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USADegefa, H. Solomon论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne, Germany NIH, Bldg 10, Bethesda, MD 20892 USASarathy, A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USADonkervoort, S.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAHu, Y.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAZhou, H.论文数: 0 引用数: 0 h-index: 0机构: Dubowitz Neuromuscular Ctr, London, England NIH, Bldg 10, Bethesda, MD 20892 USACummings, B.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Boston, MA USA NIH, Bldg 10, Bethesda, MD 20892 USALek, M.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Boston, MA USA NIH, Bldg 10, Bethesda, MD 20892 USARegev, O.论文数: 0 引用数: 0 h-index: 0机构: NYU, New York, NY USA NIH, Bldg 10, Bethesda, MD 20892 USAJimenez-Mallebrera, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Barcelona, Spain NIH, Bldg 10, Bethesda, MD 20892 USAAllamand, V.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France NIH, Bldg 10, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:Wilton, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA, Australia NIH, Bldg 10, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:Lamande, S.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res In, Parkville, Vic, Australia NIH, Bldg 10, Bethesda, MD 20892 USAMacArthur, D.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Boston, MA USA NIH, Bldg 10, Bethesda, MD 20892 USAWagener, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne, Germany NIH, Bldg 10, Bethesda, MD 20892 USAMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: Dubowitz Neuromuscular Ctr, London, England NIH, Bldg 10, Bethesda, MD 20892 USABonnemann, C.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USA