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- [41] Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) geneNEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 809 - 809Jungbluth, H.论文数: 0 引用数: 0 h-index: 0机构: Evelina Childrens Hosp, London, England Guys & St Thomas NHS Fdn Trust, Dept Paediat Neurol, London, England Evelina Childrens Hosp, London, EnglandLillis, S.论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas NHS Fdn Trust, Diagnost Genet Lab, London, England Evelina Childrens Hosp, London, EnglandZhou, H.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Evelina Childrens Hosp, London, EnglandAbbs, S.论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas NHS Fdn Trust, Diagnost Genet Lab, London, England Evelina Childrens Hosp, London, EnglandSwash, M.论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Dept Neurol, London E1 1BB, England Evelina Childrens Hosp, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Evelina Childrens Hosp, London, England
- [42] Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNCREVUE NEUROLOGIQUE, 2016, 172 (10) : 594 - 606论文数: 引用数: h-index:机构:Gueneau, L.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceBatonnet-Pichon, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, CNRS, Unite Biol Fonct & Adaptat,UMR 8251, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceDelort, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, CNRS, Unite Biol Fonct & Adaptat,UMR 8251, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceBecane, H. -M.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceClaeys, K.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Assoc Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceBeuvin, M.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France论文数: 引用数: h-index:机构:Jais, J. -P.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, GH Necker Enfants Malad, Fac Med Biostat & Informat Med, EA 4067, F-75015 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceNelson, I.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceRichard, P.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Serv Biochim Metab, UF Cardiogenet & Myogenet, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceBen Yaou, R.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceRomero, N. B.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France Grp Hosp Pitie Salpetriere, Assoc Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceWahbi, K.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75013 Paris, France Grp Hosp Cochin Broca Hotel Dieu, AP HP, Serv Cardiol, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceMathis, S.论文数: 0 引用数: 0 h-index: 0机构: CHU Miletrie, Serv Neurol, F-86021 Poitiers, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceVoit, T.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceFurst, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Cell Biol, Dept Mol Cell Biol, Bonn, Germany UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, Francevan der Ven, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Cell Biol, Dept Mol Cell Biol, Bonn, Germany UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceGil, R.论文数: 0 引用数: 0 h-index: 0机构: CHU Miletrie, Serv Neurol, F-86021 Poitiers, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceVicart, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, CNRS, Unite Biol Fonct & Adaptat,UMR 8251, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceFardeau, M.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Assoc Inst Myol, Unite Morphol Neuromusculaire, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceBonne, G.论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, FranceBehin, A.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, 47-83 Blvd Hop, F-75013 Paris, France UPMC Paris 06, Sorbonne Univ, Ctr Res Myol, Inserm UMRS974,CNRS FRE3617, F-75013 Paris, France
- [43] Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) geneNEUROMUSCULAR DISORDERS, 2009, 19 (05) : 344 - 347Jungbluth, Heinz论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Clin Neurosci Div, London WC2R 2LS, England St Thomas Hosp, Evelina Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London SE1 7EH, England Kings Coll London, Clin Neurosci Div, London WC2R 2LS, EnglandLillis, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, GSTS Pathol, DNA Lab, London SE1 9RT, England Kings Coll London, Clin Neurosci Div, London WC2R 2LS, EnglandZhou, Haiyan论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Kings Coll London, Clin Neurosci Div, London WC2R 2LS, EnglandAbbs, Stephen论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, GSTS Pathol, DNA Lab, London SE1 9RT, England Kings Coll London, Clin Neurosci Div, London WC2R 2LS, EnglandSewry, Caroline论文数: 0 引用数: 0 h-index: 0机构: Robert Jones & Agnes Hunt Orthopaed Hosp, RJAH, Ctr Inherited Neuromuscular Disorders, Oswestry SY10 7AG, Shrops, England Kings Coll London, Clin Neurosci Div, London WC2R 2LS, EnglandSwash, Michael论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Dept Neurol, London E1 1BB, England Kings Coll London, Clin Neurosci Div, London WC2R 2LS, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Kings Coll London, Clin Neurosci Div, London WC2R 2LS, England
- [44] Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations中华医学杂志英文版, 2016, 129 (12) : 1425 - 1431Liu Xin-Yi论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular NeurologyJin Ming论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular NeurologyWang Zhi-Qiang论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular NeurologyWang Dan-Ni论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular NeurologyHe Jun-Jie论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular NeurologyLin Min-Ting论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular NeurologyFu Hong-Xia论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular NeurologyWang Ning论文数: 0 引用数: 0 h-index: 0机构: Fujian Key Laboratory of Molecular Neurology
- [45] Sustained Activation of mTORC1 in Skeletal Muscle Inhibits Constitutive and Starvation-Induced Autophagy and Causes a Severe, Late-Onset MyopathyCELL METABOLISM, 2013, 17 (05) : 731 - 744Castets, Perrine论文数: 0 引用数: 0 h-index: 0机构: Univ Basel, Biozentrum, CH-4056 Basel, Switzerland Univ Basel Hosp, Dept Neurol, Neuromuscular Res Ctr, CH-4056 Basel, Switzerland Univ Basel Hosp, Dept Biomed, Pharmazentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, SwitzerlandLin, Shuo论文数: 0 引用数: 0 h-index: 0机构: Univ Basel, Biozentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, SwitzerlandRion, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Basel, Biozentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, SwitzerlandDi Fulvio, Sabrina论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Dept Neurol, Neuromuscular Res Ctr, CH-4056 Basel, Switzerland Univ Basel Hosp, Dept Biomed, Pharmazentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, SwitzerlandRomanino, Klaas论文数: 0 引用数: 0 h-index: 0机构: Univ Basel, Biozentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, SwitzerlandGuridi, Maitea论文数: 0 引用数: 0 h-index: 0机构: Univ Basel, Biozentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, Switzerland论文数: 引用数: h-index:机构:Tintignac, Lionel A.论文数: 0 引用数: 0 h-index: 0机构: Univ Basel, Biozentrum, CH-4056 Basel, Switzerland Univ Montpellier 2, Univ Montpellier 1, INRA, UMR866, F-34060 Montpellier, France Univ Basel, Biozentrum, CH-4056 Basel, SwitzerlandSinnreich, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Dept Neurol, Neuromuscular Res Ctr, CH-4056 Basel, Switzerland Univ Basel Hosp, Dept Biomed, Pharmazentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, SwitzerlandRueegg, Markus A.论文数: 0 引用数: 0 h-index: 0机构: Univ Basel, Biozentrum, CH-4056 Basel, Switzerland Univ Basel, Biozentrum, CH-4056 Basel, Switzerland
- [46] Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene MutationsCHINESE MEDICAL JOURNAL, 2016, 129 (12) : 1425 - +Liu, Xin-Yi论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaJin, Ming论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaWang, Zhi-Qiang论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaWang, Dan-Ni论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaHe, Jun-Jie论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaLin, Min-Ting论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaFu, Hong-Xia论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaWang, Ning论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China
- [47] An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual ElectrocardiogramsINTERNAL MEDICINE, 2017, 56 (02) : 163 - 168Sato, Chikako论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, JapanTakaya, Tomofumi论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, JapanMori, Shumpei论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan论文数: 引用数: h-index:机构:Soga, Fumitaka论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, JapanTanaka, Hidekazu论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, JapanWatanabe, Yoshiaki论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Radiol, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan论文数: 引用数: h-index:机构:Kono, Atsushi K.论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Radiol, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, JapanMorinaga, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Dept Diagnost Pathol, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, JapanIshibashi-Ueda, Hatsue论文数: 0 引用数: 0 h-index: 0机构: Natl Cerebral & Cardiovasc Ctr, Dept Clin Pathol, Suita, Osaka, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, JapanHirata, Ken-ichi论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan Kobe Univ, Div Cardiovasc Med, Dept Internal Med, Grad Sch Med, Kobe, Hyogo, Japan
- [48] Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patternsNEUROMUSCULAR DISORDERS, 2011, 21 (11) : 791 - 799Carlier, Robert-Yves论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, France Inst Myol, Lab RMN AIM CEA, F-75013 Paris, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FranceLaforet, Pascal论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, INSERM, U582, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FranceWary, Claire论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Lab RMN AIM CEA, F-75013 Paris, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FranceMompoint, Dominique论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FranceLaloui, Kenza论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, INSERM, U582, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FrancePellegrini, Nadine论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, AP HP, Serv Reanimat, F-92380 Garches, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FranceAnnane, Djillali论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, AP HP, Serv Reanimat, F-92380 Garches, France UVSQ, Hop Raymond Poincare, AP HP, CI CIT, F-92380 Garches, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FranceCarlier, Pierre G.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Lab RMN AIM CEA, F-75013 Paris, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, FranceOrlikowski, David论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, AP HP, Serv Reanimat, F-92380 Garches, France UVSQ, Hop Raymond Poincare, AP HP, CI CIT, F-92380 Garches, France Hop Raymond Poincare, AP HP, Serv Radiol, F-92380 Garches, France
- [49] Late-onset muscle weakness in partial phosphofructokinase deficiency: A unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5 intron 5 junction point mutationNEUROLOGY, 1996, 46 (05) : 1337 - 1342Sivakumar, K论文数: 0 引用数: 0 h-index: 0机构: NINCDS,NEUROMUSCULAR DIS SECT,NIH,BETHESDA,MD 20892Vasconcelos, O论文数: 0 引用数: 0 h-index: 0机构: NINCDS,NEUROMUSCULAR DIS SECT,NIH,BETHESDA,MD 20892Goldfarb, L论文数: 0 引用数: 0 h-index: 0机构: NINCDS,NEUROMUSCULAR DIS SECT,NIH,BETHESDA,MD 20892Dalakas, MC论文数: 0 引用数: 0 h-index: 0机构: NINCDS,NEUROMUSCULAR DIS SECT,NIH,BETHESDA,MD 20892
- [50] NEO-EXT: Skeletal Muscle % Fat in Late-Onset Pompe Disease After Long-Term Avalglucosidase Alfa (3-point Dixon MRI)EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 333 - 333Carlier, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, France Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, France论文数: 引用数: h-index:机构:Manera, J. Diaz论文数: 0 引用数: 0 h-index: 0机构: John Walton Muscular Dystrophy Res Ctr, Newcastle, NSW, Australia Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceBarohn, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Kansas, Med Ctr, Kansas City, KS 66103 USA Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceByrne, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Gainesville, FL USA Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceGoker-Alpan, O.论文数: 0 引用数: 0 h-index: 0机构: O&O Alpan LLC, Fairfax, VA USA Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Laforet, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Versailles St Quentin En Yvelines, Ctr Reference Malad Neuromusculaires Nord Est Ile, Serv Neurol, Hop Raymond Poincare,Garches,AP HP, Montigny Le Bretonneux, France Univ Versailles St Quentin En Yvelines, INSERM, U1179, Montigny Le Bretonneux, France Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceMengel, K.论文数: 0 引用数: 0 h-index: 0机构: SphinCS GmbH, Inst Clin Sci LSD, Hochheim, Germany Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FrancePena, L.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Time Study Participat, Durham, NC USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Cincinnati, OH 45229 USA Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceSacconi, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Nice CHU, Dept Clin Neurosci, Neuromuscular Dis Ctr, Nice, France Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceStraub, V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceTrivedi, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dallas, TX 75390 USA Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceVan Damme, P.论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Leuven, Belgium Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceVan der Ploeg, A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Univ Med Ctr, Ctr Lysosomal & Metab Dis, Rotterdam, Netherlands Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceYoung, P.论文数: 0 引用数: 0 h-index: 0机构: Med Pk Bad Feilnbach, UDept Neurol, Med Pk Bad Feilnbach, Bad Feilnbach, Germany Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceHaack, K. An论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Shanghai, Peoples R China Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceFoster, M.论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Cambridge, England Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceMiossec, P.论文数: 0 引用数: 0 h-index: 0机构: Sanofi Genzyme, Chilly Mazarin, France Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceZhou, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceDimachkie, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Kansas, Med Ctr, Kansas City, KS 66103 USA Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, FranceSchoser, B.论文数: 0 引用数: 0 h-index: 0机构: Friedrich Baur Inst, Munich, Germany Univ Paris Saclay, Serv Hosp Freder Joliot, CEA, DRF, Orsay, France