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- [31] Comprehensive Characterization of Muscle Disease in Col6a2 Null Mice, a Novel Mouse Model of Collagen VI-Related DisordersANNALS OF NEUROLOGY, 2016, 80 : S186 - S186Mohassel, Payam论文数: 0 引用数: 0 h-index: 0Rooney, Jachinta论文数: 0 引用数: 0 h-index: 0Sarathy, Apurva论文数: 0 引用数: 0 h-index: 0Zou, Yaqun论文数: 0 引用数: 0 h-index: 0Bonnemann, Carsten G.论文数: 0 引用数: 0 h-index: 0
- [32] A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse ModelMOLECULAR THERAPY, 2019, 27 (04) : 304 - 304Bolduc, Veronique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 USAFoley, A. Reghan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 USASolomon-Degefa, Herimela论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USASarathy, Apurva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 USADonkervoort, Sandra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 USAHu, Ying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 USAChen, Grace S.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 USANalls, Matthew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 USAZhou, Haiyan论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAAguti, Sara论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USACummings, Beryl B.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA 02142 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USALek, Monkol论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USATukiainen, Taru论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA 02142 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAMarshall, Jamie L.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA 02142 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USARegev, Oded论文数: 0 引用数: 0 h-index: 0机构: NYU, Courant Inst Math Sci, New York, NY USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAMarek-Yagel, Dina论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Metab Dis Unit, Tel Hashomer, Israel NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USASarkozy, Anna论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAButterfield, Russell J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Neurol & Pediat, Salt Lake City, UT USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAJou, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAJimenez-Mallebrera, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Neuropediat Dept, Neuromuscular Unit, Barcelona, Spain NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USALi, Yan论文数: 0 引用数: 0 h-index: 0机构: NINDS, Peptide Prot Sequencing Facil, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USACheng, Jun论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Embryon Stem Cell & Transgen Mouse Core, NIH, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAGarrett, Lisa论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Embryon Stem Cell & Transgen Mouse Core, NIH, Bethesda, MD 20892 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAGartioux, Corine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, UMRS974, Ctr Res Myol, Paris, France NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAMamchaoui, Kamel论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, UMRS974, Ctr Res Myol, Paris, France NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAAllamand, Valerie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, UMRS974, Ctr Res Myol, Paris, France NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Wilton, Steve D.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perron Inst Neurol & Translat Sci, Perth, WA, Australia NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USALamande, Shireen R.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, Australia NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAMacArthur, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Med & Populat Genet, Cambridge, MA 02142 USA NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAWagener, Raimund论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England 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
- [33] Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesBMC MEDICAL GENETICS, 2010, 11Bovolenta, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, Italy论文数: 引用数: h-index:机构:Martoni, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, Italy论文数: 引用数: h-index:机构:Sabatelli, Patrizia论文数: 0 引用数: 0 h-index: 0机构: IOR, IGM CNR, Unit Bologna, Bologna, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, ItalyFabris, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, ItalyGrumati, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Histol Microbiol & Med Biotechnol, Padua, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, ItalyMercuri, Eugenio论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ, Dept Child Neurol & Psychiat, Rome, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, ItalyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Mol Med Unit, Dept Lab Med, Rome, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, ItalyMerlini, Luciano论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, Italy IOR, Biol Lab, Bologna, Italy Univ Ferrara, Dept Expt & Diagnost Med, Med Genet Sect, I-44100 Ferrara, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [34] Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesJOURNAL OF NEUROMUSCULAR DISEASES, 2021, 8 (04) : 633 - 645Villar-Quiles, Rocio N.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceDonkervoort, Sandra论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, Francede Becdelievre, Alix论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, AP HP, Dept Genet, Creteil, France GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France论文数: 引用数: h-index:机构:Jobic, Valerie论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceFoley, A. Reghan论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMcCarty, Riley M.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceHu, Ying论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMenassa, Rita论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Serv Biochim Biol Mol Grand Est, CBPE,LBMMS, Bron, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMichel, Laurence论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Serv Biochim Biol Mol Grand Est, CBPE,LBMMS, Bron, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceGousse, Gaelle论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Neuropediat, St Etienne, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceLacour, Arnaud论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Neurol, St Etienne, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FrancePetiot, Philippe论文数: 0 引用数: 0 h-index: 0机构: Hop Croix Rousse, Neurol & Explorat Fonctionnelles Neurol, Ctr Reference Malad Neuromusculaires Reg Rhone Al, Lyon, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceStreichenberger, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Ctr Pathol & Neuropathol Est, Bron, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceChoumert, Ariane论文数: 0 引用数: 0 h-index: 0机构: CHU Sud Reunion, Ctr Malad Rares Neurol, St Pierre, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceDeclerck, Lea论文数: 0 引用数: 0 h-index: 0机构: CHU Sud Reunion, Ctr Malad Rares Neurol, St Pierre, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceUrtizberea, J. A.论文数: 0 引用数: 0 h-index: 0机构: Hop Marin, Ctr Competence Neuromusculaire, Hendaye, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceSole, Guilhem论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Ctr Reference Malad Neuromusculaires AOC, Hop Pellegrin, Bordeaux, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceFurby, Alain论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Hop Nord, Ctr Reference Malad Neuromusculaires Rares Rhones, St Etienne, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceCerino, Matthieu论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France Hop Conception, AP HM, Lab Biochim, Marseille, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceKrahn, Martin论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceCampana-Salort, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France论文数: 引用数: h-index:机构:Eymard, Bruno论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceBonnemann, Carsten G.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceBharucha-Goebel, Diana论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Childrens Natl Hosp, Div Neurol, Washington, DC USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceSumner, Charlotte J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceConnolly, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pediat, Nationwide Childrens Hosp, Neurol Div, Columbus, OH 43210 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceRichard, Pascale论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceAllamand, Valerie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France Lund Univ, Dept Expt Med Sci, Unit Muscle Biol, Lund, Sweden Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMetay, Corinne论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceStojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France