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- [41] Mutations in dynamin 2 cause dominant centronuclear myopathyNature Genetics, 2005, 37 : 1207 - 1209Marc Bitoun论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsSvetlana Maugenre论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsPierre-Yves Jeannet论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsEmmanuelle Lacène论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsXavier Ferrer论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsPascal Laforêt论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsJean-Jacques Martin论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsJocelyn Laporte论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsHanns Lochmüller论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsAlan H Beggs论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsMichel Fardeau论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsBruno Eymard论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsNorma B Romero论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of PediatricsPascale Guicheney论文数: 0 引用数: 0 h-index: 0机构: INSERM U582,Department of Pediatrics
- [42] Mutations in dynamin 2 cause dominant centronuclear myopathyM S-MEDECINE SCIENCES, 2006, 22 (02): : 101 - 102Bitoun, M论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, CHU Pitie Salpetriere,INSERM, U582, AP HP,IFR 14, F-75013 Paris, France Univ Paris 06, CHU Pitie Salpetriere,INSERM, U582, AP HP,IFR 14, F-75013 Paris, FranceRomero, NB论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, CHU Pitie Salpetriere,INSERM, U582, AP HP,IFR 14, F-75013 Paris, France Univ Paris 06, CHU Pitie Salpetriere,INSERM, U582, AP HP,IFR 14, F-75013 Paris, FranceGuicheney, P论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, CHU Pitie Salpetriere,INSERM, U582, AP HP,IFR 14, F-75013 Paris, France Univ Paris 06, CHU Pitie Salpetriere,INSERM, U582, AP HP,IFR 14, F-75013 Paris, France
- [43] BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of SpainNEUROMUSCULAR DISORDERS, 2017, 27 : S172 - S173Cabrera-Serrano, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Rocio, Seville, Spain Hosp Virgen Rocio, Seville, SpainRivas-Infante, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Rocio, Seville, Spain Hosp Virgen Rocio, Seville, SpainMavillard, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Rocio, Seville, Spain Hosp Virgen Rocio, Seville, SpainMorar, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA, Australia Hosp Virgen Rocio, Seville, SpainComas, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Pompeu Fabra, Barcelona, Spain Hosp Virgen Rocio, Seville, SpainCarvajal, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Nieves, Granada, Spain Hosp Virgen Rocio, Seville, SpainAvila, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Rocio, Seville, Spain Hosp Virgen Rocio, Seville, SpainMuelas, N.论文数: 0 引用数: 0 h-index: 0机构: Hosp La Fe, Valencia, Spain Hosp Virgen Rocio, Seville, SpainOlive, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Belvitge, Barcelona, Spain Hosp Virgen Rocio, Seville, SpainDiaz, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Barcelona, Spain Hosp Virgen Rocio, Seville, SpainVerges, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Belvitge, Barcelona, Spain Hosp Virgen Rocio, Seville, SpainRomero, N.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Paris, France Hosp Virgen Rocio, Seville, SpainLaporte, J.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Strasbourg, France Hosp Virgen Rocio, Seville, SpainVilchez, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp La Fe, Valencia, Spain Hosp Virgen Rocio, Seville, SpainLaing, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA, Australia Hosp Virgen Rocio, Seville, SpainKalaydjieva, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA, Australia Hosp Virgen Rocio, Seville, SpainParadas, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Rocio, Seville, Spain Hosp Virgen Rocio, Seville, Spain
- [44] Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophyNEUROLOGY-GENETICS, 2018, 4 (06)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Ogaki, Kotaro论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Shizuoka Hosp, Dept Neurol, Tokyo, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanEriguchi, Makoto论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Div Neurol, Dept Internal Med, Fac Med, Saga, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanMizuno, Yuri论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Dept Neurol, Neurol Inst, Grad Sch Med Sci, Fukuoka, Fukuoka, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanKomatsu, Kenichi论文数: 0 引用数: 0 h-index: 0机构: Kitano Hosp, Tazuke Kofukai Med Res Inst, Dept Neurol, Osaka, Osaka, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanYamazaki, Hiroki论文数: 0 引用数: 0 h-index: 0机构: Kitano Hosp, Tazuke Kofukai Med Res Inst, Dept Neurol, Osaka, Osaka, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanSuetsugi, Natsuki论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Div Neurol, Dept Internal Med, Fac Med, Saga, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanKawajiri, Sumihiro论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Shizuoka Hosp, Dept Neurol, Tokyo, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan论文数: 引用数: h-index:机构:Ishiguro, Takanobu论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Neurol, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan论文数: 引用数: h-index:机构:Nozaki, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Grad Sch Hlth Sci, Med Technol, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan论文数: 引用数: h-index:机构:Okuma, Yasuyuki论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Shizuoka Hosp, Dept Neurol, Tokyo, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanKira, Jun-Ichi论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Dept Neurol, Neurol Inst, Grad Sch Med Sci, Fukuoka, Fukuoka, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanHara, Hideo论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Div Neurol, Dept Internal Med, Fac Med, Saga, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanOnodera, Osamu论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Neurol, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, JapanIkeuchi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan
- [45] Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophyBIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2013, 1832 (03): : 411 - 420Columbaro, Marta论文数: 0 引用数: 0 h-index: 0机构: RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, Italy Lab Orthopaed Pathophysiol & Regenerat Med, Bologna, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyMattioli, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Natl Res Council Italy, Inst Mol Genet, Unit Bologna, Bologna, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyMaraldi, Nadir M.论文数: 0 引用数: 0 h-index: 0机构: RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, Italy Lab Orthopaed Pathophysiol & Regenerat Med, Bologna, Italy Natl Res Council Italy, Inst Mol Genet, Unit Bologna, Bologna, Italy Univ Bologna, Dept Anat Sci, Bologna, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyOrtolani, Michela论文数: 0 引用数: 0 h-index: 0机构: Natl Res Council Italy, Inst Mol Genet, Unit Bologna, Bologna, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyGasparini, Laura论文数: 0 引用数: 0 h-index: 0机构: Ist Italian Tecnol, Dept Neurosci & Brain Technol, Genoa, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyD'Apice, Maria Rosaria论文数: 0 引用数: 0 h-index: 0机构: Policlin Tor Vergata, Med Genet Lab, Rome, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyPostorivo, Diana论文数: 0 引用数: 0 h-index: 0机构: Policlin Tor Vergata, Med Genet Lab, Rome, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyNardone, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: Policlin Tor Vergata, Med Genet Lab, Rome, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyAvnet, Sofia论文数: 0 引用数: 0 h-index: 0机构: RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, Italy Lab Orthopaed Pathophysiol & Regenerat Med, Bologna, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, Italy论文数: 引用数: h-index:机构:Liguori, Rocco论文数: 0 引用数: 0 h-index: 0机构: RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, ItalyLattanzi, Giovanna论文数: 0 引用数: 0 h-index: 0机构: Natl Res Council Italy, Inst Mol Genet, Unit Bologna, Bologna, Italy Univ Bologna, Dept Neurol, Ist Sci Neurol Bologna, IRCCS, Bologna, Italy RAMSES, Rizzoli Orthopaed Inst, Lab Musculoskeletal Cell Biol, Bologna, Italy
- [46] Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear MyopathyPLOS GENETICS, 2013, 9 (06):Boehm, Johann论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France CNRS, UMR7104, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France IGBMC, Illkirch Graffenstaden, FranceVasli, Nasim论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France CNRS, UMR7104, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France IGBMC, Illkirch Graffenstaden, FranceMaurer, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Est Creteil, CNM Project, Ecole Natl Vet Alfort, Maisons Alfort, France INRA, Genet Fonct & Med UMR955, Maisons Alfort, France IGBMC, Illkirch Graffenstaden, FranceCowling, Belinda论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France CNRS, UMR7104, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France IGBMC, Illkirch Graffenstaden, FranceShelton, G. Diane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pathol, La Jolla, CA 92093 USA IGBMC, Illkirch Graffenstaden, FranceKress, Wolfram论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Dept Human Genet, Wurzburg, Germany IGBMC, Illkirch Graffenstaden, FranceToussaint, Anne论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France CNRS, UMR7104, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France IGBMC, Illkirch Graffenstaden, France论文数: 引用数: h-index:机构:Schara, Ulrike论文数: 0 引用数: 0 h-index: 0机构: Univ Essen Gesamthsch, Dept Neuropediat, Essen, Germany IGBMC, Illkirch Graffenstaden, FranceAnderson, Thomas James论文数: 0 引用数: 0 h-index: 0机构: Univ Glasgow, Sch Vet, Inst Comparat Med, Div Compan Anim Sci, Glasgow, Lanark, Scotland IGBMC, Illkirch Graffenstaden, FranceWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Neuropathol, Aachen, Germany Rhein Westfal TH Aachen, JARA Brain Translat Med, Aachen, Germany IGBMC, Illkirch Graffenstaden, FranceTiret, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Est Creteil, CNM Project, Ecole Natl Vet Alfort, Maisons Alfort, France INRA, Genet Fonct & Med UMR955, Maisons Alfort, France IGBMC, Illkirch Graffenstaden, FranceLaporte, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France CNRS, UMR7104, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France IGBMC, Illkirch Graffenstaden, France
- [47] Autosomal dominant centronuclear myopathy: Clinical and morphological analysis in 11 familiesJOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S18 - S18Jeannet, PY论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, INSERM, U523, Inst Myol, Paris, FranceRomero, NB论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, INSERM, U523, Inst Myol, Paris, FranceFerrer, X论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, INSERM, U523, Inst Myol, Paris, FranceGuicheney, P论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, INSERM, U523, Inst Myol, Paris, FranceUrtizberea, JA论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, INSERM, U523, Inst Myol, Paris, FranceFardeau, M论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, INSERM, U523, Inst Myol, Paris, France
- [48] ADULT-ONSET MITOCHONDRIAL MYOPATHYPOSTGRADUATE MEDICAL JOURNAL, 1992, 68 (797) : 212 - 215FERNANDEZSOLA, J论文数: 0 引用数: 0 h-index: 0机构: HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAINCASADEMONT, J论文数: 0 引用数: 0 h-index: 0机构: HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAINGRAU, JM论文数: 0 引用数: 0 h-index: 0机构: HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAINGRAUS, F论文数: 0 引用数: 0 h-index: 0机构: HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAINCARDELLACH, F论文数: 0 引用数: 0 h-index: 0机构: HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAINPEDROL, E论文数: 0 引用数: 0 h-index: 0机构: HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAINURBANOMARQUEZ, A论文数: 0 引用数: 0 h-index: 0机构: HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN HOSP CLIN BARCELONA, DEPT NEUROL, E-08036 BARCELONA, SPAIN
- [49] Adult-onset polyglucosan myopathyNEUROMUSCULAR DISORDERS, 2006, 16 : S158 - S158Akman, Hasan O.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, New York, NY USAKaminska, Anna论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, New York, NY USAKostera-Pruszczyk, Anna论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, New York, NY USAFidzianska, Anna论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, New York, NY USADiMauro, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, New York, NY USA
- [50] Adult-Onset Autosomal Dominant Leukodystrophy: Linking Nuclear Envelope to MyelinJOURNAL OF NEUROSCIENCE, 2011, 31 (04): : 1163 - 1166Lin, Shu-Ting论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USAPtacek, Louis J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USAFu, Ying-Hui论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA