共 50 条
- [41] Magnetic resonance imaging findings of the skeletal muscle of a patient with nemaline myopathyINTERNAL MEDICINE, 1998, 37 (09) : 776 - 779Oishi, M论文数: 0 引用数: 0 h-index: 0机构: Nihon Univ, Sch Med, Dept Neurol, Tokyo 1790072, Japan Nihon Univ, Sch Med, Dept Neurol, Tokyo 1790072, JapanMochizuki, Y论文数: 0 引用数: 0 h-index: 0机构: Nihon Univ, Sch Med, Dept Neurol, Tokyo 1790072, Japan Nihon Univ, Sch Med, Dept Neurol, Tokyo 1790072, Japan
- [42] Modulating Myosin Restores Muscle Function in a Mouse Model of Nemaline MyopathyANNALS OF NEUROLOGY, 2016, 79 (05) : 717 - 725论文数: 引用数: h-index:机构:Levy, Yotam论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, England Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, EnglandPati-Alam, Alisha论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, England Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, EnglandHardeman, Edna C.论文数: 0 引用数: 0 h-index: 0机构: Univ New S Wales, Sch Med Sci, Neuromuscular & Regenerat Med Unit, Sydney, NSW, Australia Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, EnglandGregorevic, Paul论文数: 0 引用数: 0 h-index: 0机构: Baker IDI Heart & Diabet Inst, Melbourne, Vic, Australia Monash Univ, Dept Biochem & Mol Biol, Melbourne, Vic 3004, Australia Univ Melbourne, Dept Physiol, Melbourne, Vic, Australia Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USA Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, EnglandOchala, Julien论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, England Kings Coll London, Fac Life Sci & Med, Ctr Human & Aerosp Physiol Sci, Guys Campus,Shepherds House,Room 3-3, London SE1 1UL, England
- [43] Nemaline bodies are not always congenital: A case of sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS)PATHOLOGY INTERNATIONAL, 2025,Thomas, Silvie论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, IndiaNarasimhaiah, Deepti论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, IndiaNair, Sruthi S.论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Neurol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, IndiaThomas, Bejoy论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Imaging Sci & Intervent Radiol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, IndiaSanthoshkumar, Rashmi论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neuropathol, Bengaluru, Karnataka, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, IndiaMahadevan, Anita论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neuropathol, Bengaluru, Karnataka, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, IndiaPoyuran, Rajalakshmi论文数: 0 引用数: 0 h-index: 0机构: Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, India Sree Chitra Tirunal Inst Med Sci & Technol SCTIMST, Dept Pathol, Trivandrum, Kerala, India
- [44] Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesActa Neuropathologica Communications, 10Clémence Labasse论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordGuy Brochier论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordAna-Lia Taratuto论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordBruno Cadot论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordJohn Rendu论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordSoledad Monges论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordValérie Biancalana论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordSusana Quijano-Roy论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordMai Thao Bui论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordAnaïs Chanut论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordAngéline Madelaine论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordEmmanuelle Lacène论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordMaud Beuvin论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordHelge Amthor论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordLaurent Servais论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordYvan de Feraudy论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordMarcela Erro论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordMaria Saccoliti论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordOsorio Abath Neto论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordJulien Fauré论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordBéatrice Lannes论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordVincent Laugel论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordSandra Coppens论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordFabiana Lubieniecki论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordAna Buj Bello论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordNigel Laing论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordTeresinha Evangelista论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordJocelyn Laporte论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordJohann Böhm论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases NordNorma B. Romero论文数: 0 引用数: 0 h-index: 0机构: GHU Pitié-Salpêtrière,Myology Institute, Neuromuscular Morphology Unit, Reference Center of Neuromuscular Diseases Nord
- [45] SIMULTANEOUS NEMALINE BODIES AND A LACK OF CARNITIN IN A CASE OF LETHAL PROGRESSIVE CONGENITAL MYOPATHYMONATSSCHRIFT KINDERHEILKUNDE, 1982, 130 (08) : 648 - 648MAHDI, S论文数: 0 引用数: 0 h-index: 0机构: MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GER MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GERSCHMAUZ, R论文数: 0 引用数: 0 h-index: 0机构: MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GER MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GERSCHWINGER, E论文数: 0 引用数: 0 h-index: 0机构: MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GER MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GERSCHMIDTSOMMERFELD, E论文数: 0 引用数: 0 h-index: 0机构: MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GER MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GERVONSTOCKHAUSEN, HB论文数: 0 引用数: 0 h-index: 0机构: MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GER MED HSCH LUBECK,NEONATAL KLIN,D-2400 LUBECK,FED REP GER
- [46] IMPAIRED MUSCLE-FIBER TYPE DIFFERENTIATION IN A CHILD WITH NEMALINE MYOPATHYJOURNAL OF PEDIATRICS, 1983, 103 (02): : 268 - 270MORIMOTO, T论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPANNAGAO, H论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPANSANO, N论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPANHABARA, S论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPANTAKAHASHI, M论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPANMATSUDA, H论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPANNOJIMA, M论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPANNONAKA, I论文数: 0 引用数: 0 h-index: 0机构: EHIME UNIV, SCH MED, DEPT ORTHOPED, SHIGENOBU, EHIME 79102, JAPAN
- [47] Rod distribution and muscle fibers type modification in the progression of nemaline myopathyNEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 767 - 767Gurgel-Giannetti, J论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilZanoteli, E论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilWerneck, LC论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilReed, U论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilBeggs, AH论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilMarie, SKN论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilFireman, MAT论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilOliveira, ASB论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilZatz, M论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, BrazilVainzof, M论文数: 0 引用数: 0 h-index: 0机构: Human Genome Res Ctr, Sao Paulo, Brazil
- [48] Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesACTA NEUROPATHOLOGICA COMMUNICATIONS, 2022, 10 (01)Labasse, Clemence论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceBrochier, Guy论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceTaratuto, Ana-Lia论文数: 0 引用数: 0 h-index: 0机构: Neuropathol & Neuromuscular Dis Lab, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceCadot, Bruno论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Ctr Res Myol, GHU Pitie Salpetriere, AP HP,INSERM,Myol Inst, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceRendu, John论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble Alpes, Lab Biochim & Genet Mol, Pole Biol, Grenoble, France Univ Grenoble Alpes, Grenoble Inst Neurosci, CHU Grenoble Alpes, U1216, Grenoble, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceMonges, Soledad论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Neurol & Neuropatol, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceBiancalana, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inserm U 1258, UMR 7104, Inst Genet & Biol Mol & Cellulaire IGBMC,CNRS, Illkirch Graffenstaden, France CHRU, Lab Diagnost Genet, Fac Med, Strasbourg, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceQuijano-Roy, Susana论文数: 0 引用数: 0 h-index: 0机构: Univ Versailles St Quentin En Yvelines, Univ Paris Saclay, Pediat Neuromuscular Unit, Hop Univ Raymond Poincare,AP HP, Garches, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceBui, Mai Thao论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceChanut, Anais论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceMadelaine, Angeline论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceLacene, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceBeuvin, Maud论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France Sorbonne Univ, Ctr Res Myol, GHU Pitie Salpetriere, AP HP,INSERM,Myol Inst, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceAmthor, Helge论文数: 0 引用数: 0 h-index: 0机构: Univ Versailles St Quentin En Yvelines, Univ Paris Saclay, Pediat Neuromuscular Unit, Hop Univ Raymond Poincare,AP HP, Garches, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceServais, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Liege, Dept Paediat, Ctr References Malad Neuromusculaires, Liege, Belgium Univ Liege, Liege, Belgium Univ Oxford, MDUK Oxford Neuromuscular Ctr, Dept Paediat, Oxford, England GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, Francede Feraudy, Yvan论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inserm U 1258, UMR 7104, Inst Genet & Biol Mol & Cellulaire IGBMC,CNRS, Illkirch Graffenstaden, France Strasbourg Univ Hosp, Dept Neuropediat, Strasbourg, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceErro, Marcela论文数: 0 引用数: 0 h-index: 0机构: Gutierrez Pediat Hosp, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceSaccoliti, Maria论文数: 0 引用数: 0 h-index: 0机构: Neuropathol & Neuromuscular Dis Lab, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceAbath Neto, Osorio论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inserm U 1258, UMR 7104, Inst Genet & Biol Mol & Cellulaire IGBMC,CNRS, Illkirch Graffenstaden, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceFaure, Julien论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble Alpes, Lab Biochim & Genet Mol, Pole Biol, Grenoble, France Univ Grenoble Alpes, Grenoble Inst Neurosci, CHU Grenoble Alpes, U1216, Grenoble, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceLannes, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Dept Pathol, Strasbourg, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceLaugel, Vincent论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Dept Neuropediat, Strasbourg, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceCoppens, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Ctr Human Genet, Brussels, Belgium GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceLubieniecki, Fabiana论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Neurol & Neuropatol, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceBello, Ana Buj论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Integrare Res Unit UMR 5951, INSERM, Evry, France Univ Evry, Genethon, Evry, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceLaing, Nigel论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, Harry Perkins Inst Med Res, Perth, WA, Australia GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceEvangelista, Teresinha论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France Sorbonne Univ, Ctr Res Myol, GHU Pitie Salpetriere, AP HP,INSERM,Myol Inst, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceLaporte, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inserm U 1258, UMR 7104, Inst Genet & Biol Mol & Cellulaire IGBMC,CNRS, Illkirch Graffenstaden, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceBohm, Johann论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Inserm U 1258, UMR 7104, Inst Genet & Biol Mol & Cellulaire IGBMC,CNRS, Illkirch Graffenstaden, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, FranceRomero, Norma B.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France Sorbonne Univ, Ctr Res Myol, GHU Pitie Salpetriere, AP HP,INSERM,Myol Inst, Paris, France GHU Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Reference Ctr Neuromuscular Dis Nord Est IDF, Paris, France
- [49] Nemaline myopathy caused by mutations in the muscle α-skeletal-actin geneAMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) : 1333 - 1343Ilkovski, B论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaCooper, ST论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaNowak, K论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaRyan, MM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaYang, N论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaSchnell, C论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaDurling, HJ论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaRoddick, LG论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaWilkinson, I论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaKornberg, AJ论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaCollins, KJ论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaWallace, G论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaGunning, P论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaHardeman, EC论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaLaing, NG论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, AustraliaNorth, KN论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Inst Neuromuscular Res, Westmead, NSW 2145, Australia
- [50] Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutationsANNALS OF NEUROLOGY, 2004, 56 (01) : 86 - 96Agrawal, PB论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAStrickland, CD论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAMidgett, C论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAMorales, A论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USANewburger, DE论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAPoulos, MA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USATomczak, KK论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USARyan, MM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USAIannaccone, ST论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USACrawford, TO论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USALaing, NG论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USABeggs, MH论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Boston, MA 02115 USA