共 50 条
- [1] Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutationsBRAIN, 2014, 137 : 3160 - 3170Boehm, Johann论文数: 0 引用数: 0 h-index: 0机构: IGBMC, F-67404 Illkirch Graffenstaden, France INSERM, U964, F-67404 Illkirch Graffenstaden, France CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, F-67404 Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, F-67404 Illkirch Graffenstaden, France IGBMC, F-67404 Illkirch Graffenstaden, France论文数: 引用数: h-index:机构:Malfatti, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UM76, INSERM, UMR 974,CNRS,UMR 7215,Inst Myol,Grp Hosp La Pitie, F-75013 Paris, France Grp Hosp La Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France Univ Siena, Dept Neurol Neurosurg & Behav Sci, I-53100 Siena, Italy IGBMC, F-67404 Illkirch Graffenstaden, FranceDondaine, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Nouvel Hop Civil, Fac Med, Lab Diagnost Genet, F-67000 Strasbourg, France IGBMC, F-67404 Illkirch Graffenstaden, France论文数: 引用数: h-index:机构:Vasli, Nasim论文数: 0 引用数: 0 h-index: 0机构: IGBMC, F-67404 Illkirch Graffenstaden, France INSERM, U964, F-67404 Illkirch Graffenstaden, France CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, F-67404 Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, F-67404 Illkirch Graffenstaden, France IGBMC, F-67404 Illkirch Graffenstaden, FranceKress, Wolfram论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Dept Human Genet, D-97074 Wurzburg, Germany IGBMC, F-67404 Illkirch Graffenstaden, FranceStrittmatter, Matthias论文数: 0 引用数: 0 h-index: 0机构: SHG Klinikum, D-66663 Merzig, Germany IGBMC, F-67404 Illkirch Graffenstaden, FranceLia Taratuto, Ana论文数: 0 引用数: 0 h-index: 0机构: FLENI, Neurol Res Inst, Buenos Aires, DF, Argentina IGBMC, F-67404 Illkirch Graffenstaden, FranceGonorazky, Hernan论文数: 0 引用数: 0 h-index: 0机构: Hosp Italiano Buenos Aires, Buenos Aires, DF, Argentina IGBMC, F-67404 Illkirch Graffenstaden, FranceLaforet, Pascal论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp La Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France IGBMC, F-67404 Illkirch Graffenstaden, FranceMaisonobe, Thierry论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp La Pitie Salpetriere, Lab Neuropathol, F-75013 Paris, France IGBMC, F-67404 Illkirch Graffenstaden, FranceOlive, Montse论文数: 0 引用数: 0 h-index: 0机构: IDIBELL Hosp Univ Bellvitge, Inst Neuropatol, Barcelona 08901, Spain IGBMC, F-67404 Illkirch Graffenstaden, FranceGonzalez-Mera, Laura论文数: 0 引用数: 0 h-index: 0机构: IDIBELL Hosp Univ Bellvitge, Inst Neuropatol, Barcelona 08901, Spain IGBMC, F-67404 Illkirch Graffenstaden, FranceFardeau, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UM76, INSERM, UMR 974,CNRS,UMR 7215,Inst Myol,Grp Hosp La Pitie, F-75013 Paris, France Grp Hosp La Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France IGBMC, F-67404 Illkirch Graffenstaden, FranceCarriere, Nathalie论文数: 0 引用数: 0 h-index: 0机构: INSERM, U929, F-63000 Clermont Ferrand, France Univ Clermont 1, F-63000 Clermont Ferrand, France CHU Clermont Ferrand, F-63000 Clermont Ferrand, France IGBMC, F-67404 Illkirch Graffenstaden, FranceClavelou, Pierre论文数: 0 引用数: 0 h-index: 0机构: INSERM, U929, F-63000 Clermont Ferrand, France Univ Clermont 1, F-63000 Clermont Ferrand, France CHU Clermont Ferrand, F-63000 Clermont Ferrand, France IGBMC, F-67404 Illkirch Graffenstaden, FranceEymard, Bruno论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp La Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France IGBMC, F-67404 Illkirch Graffenstaden, FranceBitoun, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UM76, INSERM, UMR 974,CNRS,UMR 7215,Inst Myol,Grp Hosp La Pitie, F-75013 Paris, France IGBMC, F-67404 Illkirch Graffenstaden, FranceRendu, John论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Dept Biochim Biochim & Genet Mol, F-38700 La Tronche, France IGBMC, F-67404 Illkirch Graffenstaden, FranceFaure, Julien论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Dept Biochim Biochim & Genet Mol, F-38700 La Tronche, France IGBMC, F-67404 Illkirch Graffenstaden, FranceWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Neuropathol, D-52062 Aachen, Germany Rhein Westfal TH Aachen, JARA Brain Translat Med, D-52062 Aachen, Germany IGBMC, F-67404 Illkirch Graffenstaden, FranceMandel, Jean-Louis论文数: 0 引用数: 0 h-index: 0机构: IGBMC, F-67404 Illkirch Graffenstaden, France INSERM, U964, F-67404 Illkirch Graffenstaden, France CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, F-67404 Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, F-67404 Illkirch Graffenstaden, France Nouvel Hop Civil, Fac Med, Lab Diagnost Genet, F-67000 Strasbourg, France IGBMC, F-67404 Illkirch Graffenstaden, FranceRomero, Norma B.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, UM76, INSERM, UMR 974,CNRS,UMR 7215,Inst Myol,Grp Hosp La Pitie, F-75013 Paris, France Grp Hosp La Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France IGBMC, F-67404 Illkirch Graffenstaden, FranceLaporte, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: IGBMC, F-67404 Illkirch Graffenstaden, France INSERM, U964, F-67404 Illkirch Graffenstaden, France CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, F-67404 Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, F-67404 Illkirch Graffenstaden, France IGBMC, F-67404 Illkirch Graffenstaden, France
- [2] Sarcolemmal membrane alterations in autosomal recessive centronuclear myopathy due to BIN1 mutationsBRAIN PATHOLOGY, 2014, 24 : 63 - 63Malfatti, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Dept Pathol, Inst Biomed, Gothenburg, Sweden Univ Gothenburg, Dept Pathol, Inst Biomed, Gothenburg, SwedenNennesmo, I论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ La Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, Paris, France Univ Gothenburg, Dept Pathol, Inst Biomed, Gothenburg, SwedenLaporte, J.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Translat Med, Illkirch Graffenstaden, France Univ Gothenburg, Dept Pathol, Inst Biomed, Gothenburg, SwedenRomero, N. B.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Univ La Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, Paris, France Univ Gothenburg, Dept Pathol, Inst Biomed, Gothenburg, Sweden论文数: 引用数: h-index:机构:
- [3] Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyNature Genetics, 2007, 39 : 1134 - 1139Anne-Sophie Nicot论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyAnne Toussaint论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyValérie Tosch论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyChristine Kretz论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyCarina Wallgren-Pettersson论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyErik Iwarsson论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyHelen Kingston论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyJean-Marie Garnier论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyValérie Biancalana论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyAnders Oldfors论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyJean-Louis Mandel论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular PathologyJocelyn Laporte论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC),Department of Molecular Pathology
- [4] Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyNATURE GENETICS, 2007, 39 (09) : 1134 - 1139Nicot, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceToussaint, Anne论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceTosch, Valerie论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceKretz, Christine论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceWallgren-Pettersson, Carina论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceIwarsson, Erik论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceKingston, Helen论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceGarnier, Jean-Marie论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceBiancalana, Valerie论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceOldfors, Anders论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceMandel, Jean-Louis论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, FranceLaporte, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, France IGBMC, Dept Mol Pathol, F-67400 Illkirch Graffenstaden, France
- [5] A case of adult-onset centronuclear myopathyYONSEI MEDICAL JOURNAL, 2004, 45 (02) : 352 - 355Na, SJ论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med,Brain Korea 21 Project Med Sci, Yondong Severance Hosp, Dept Neurol, Seoul 135720, South KoreaKim, TS论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med,Brain Korea 21 Project Med Sci, Yondong Severance Hosp, Dept Neurol, Seoul 135720, South KoreaChoi, YC论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med,Brain Korea 21 Project Med Sci, Yondong Severance Hosp, Dept Neurol, Seoul 135720, South Korea
- [6] BIN1 deficiency in zebrafish results in centronuclear myopathyNEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 760 - 760Smith, L. L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Genet, Boston Childrens Hosp, Boston, MA USAGupta, V. A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Genet, Boston Childrens Hosp, Boston, MA USABeggs, A. H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Genet, Boston Childrens Hosp, Boston, MA USA
- [7] AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHYREVUE NEUROLOGIQUE, 1992, 148 (10) : 622 - 630FERRER, X论文数: 0 引用数: 0 h-index: 0机构: HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCEVITAL, C论文数: 0 引用数: 0 h-index: 0机构: HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCECOQUET, M论文数: 0 引用数: 0 h-index: 0机构: HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCEDELEPLANQUE, B论文数: 0 引用数: 0 h-index: 0机构: HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCEELLIE, E论文数: 0 引用数: 0 h-index: 0机构: HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCELAGUENY, A论文数: 0 引用数: 0 h-index: 0机构: HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCEJULIEN, J论文数: 0 引用数: 0 h-index: 0机构: HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE HOP PELLEGRIN,ANAT PATHOL LAB,F-33076 BORDEAUX,FRANCE
- [8] Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsNature Communications, 10Montse Olivé论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyMartin Engvall论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyGianina Ravenscroft论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyMacarena Cabrera-Serrano论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyHong Jiao论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyCarlo Augusto Bortolotti论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyMarcello Pignataro论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyMatteo Lambrughi论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyHaibo Jiang论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyAlistair R. R. Forrest论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyNúria Benseny-Cases论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyStefan Hofbauer论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyChristian Obinger论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyGianantonio Battistuzzi论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyMarzia Bellei论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyMarco Borsari论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyGiulia Di Rocco论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyHelena M. Viola论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyLivia C. Hool论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyJosep Cladera论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyKristina Lagerstedt-Robinson论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyFengqing Xiang论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyAnna Wredenberg论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyFrancesc Miralles论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyJuan José Baiges论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyEdoardo Malfatti论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyNorma B. Romero论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyNathalie Streichenberger论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyChristophe Vial论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyKristl G. Claeys论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyChiara S. M. Straathof论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyAn Goris论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyChristoph Freyer论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyMartin Lammens论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyGuillaume Bassez论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyJuha Kere论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyPaula Clemente论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyThomas Sejersen论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyBjarne Udd论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyNoemí Vidal论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyIsidre Ferrer论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyLars Edström论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyAnna Wedell论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of NeurologyNigel G. Laing论文数: 0 引用数: 0 h-index: 0机构: IDIBELL-Hospital de Bellvitge,Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology
- [9] Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsNATURE COMMUNICATIONS, 2019, 10 (1)Olive, Montse论文数: 0 引用数: 0 h-index: 0机构: Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Neuromuscular Unit, Barcelona 08907, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainEngvall, Martin论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Sci Life Lab, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Ctr Inherited Metab Dis, SE-17177 Stockholm, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainRavenscroft, Gianina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 6000, Australia Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainCabrera-Serrano, Macarena论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen Rocio, Neurol Dept, Seville 41013, Spain Hosp Univ Virgen Rocio, Inst Biomed Sevilla, Seville 41013, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainJiao, Hong论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Sci Life Lab, Dept Biosci & Nutr, SE-14157 Stockholm, Sweden Karolinska Univ Hosp, Clin Res Ctr, SE-17177 Huddinge, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainBortolotti, Carlo Augusto论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, I-41121 Modena, Italy Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainPignataro, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Chem & Geol Sci, I-41121 Modena, Italy Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainLambrughi, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, I-41121 Modena, Italy Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainJiang, Haibo论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Sch Mol Sci, 35 Stirling Highway, Crawley, WA 6009, Australia Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainForrest, Alistair R. R.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 6000, Australia Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainBenseny-Cases, Nuria论文数: 0 引用数: 0 h-index: 0机构: ALBA Synchrotron Light Source, Barcelona 08290, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainHofbauer, Stefan论文数: 0 引用数: 0 h-index: 0机构: BOKU Univ Nat Resources & Life Sci, Dept Chem, Vienna Inst BioTechnol, Div Biochem, A-1180 Vienna, Austria Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainObinger, Christian论文数: 0 引用数: 0 h-index: 0机构: BOKU Univ Nat Resources & Life Sci, Dept Chem, Vienna Inst BioTechnol, Div Biochem, A-1180 Vienna, Austria Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainBattistuzzi, Gianantonio论文数: 0 引用数: 0 h-index: 0机构: 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Pathol,Neuropathol Unit, Barcelona 08907, SpainHoo, Livia C.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Sch Human Sci, Perth, WA 6000, Australia Victor Chang Cardiac Res Inst, Darlinghurst, NSW 2010, Australia Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainCladera, Josep论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Fac Med, Dept Bioquim & Biol Mol, Unitat Biofis, Bellaterra 08193, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainLagerstedt-Robinson, Kristina论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Mol Med & Surg, Karolinska Inst, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, SE-17176 Stockholm, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainXiang, Fengqing论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Womens & Childrens Hlth, SE-17177 Stockholm, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, Spain论文数: 引用数: h-index:机构:Miralles, Francesc论文数: 0 引用数: 0 h-index: 0机构: Hosp Son Espases, Neurol Dept, Palma De Mallorca 07120, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainJose Baiges, Juan论文数: 0 引用数: 0 h-index: 0机构: Hosp Verge Cinta, Neurol Dept, Tortosa 43500, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainMalfatti, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Univ Sorbonne, UPMC Univ Paris 06, INSERM, 47 Blvd Hop, F-75013 Paris, France GH Pitie Salpetriere, Ctr Res Myol, CNRS FRE3617, UMRS974, 47 Blvd Hop, F-75013 Paris, France GHU Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, F-75013 Paris, France Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainRomero, Norma B.论文数: 0 引用数: 0 h-index: 0机构: Univ Sorbonne, UPMC Univ Paris 06, INSERM, 47 Blvd Hop, F-75013 Paris, France GH Pitie Salpetriere, Ctr Res Myol, CNRS FRE3617, UMRS974, 47 Blvd Hop, F-75013 Paris, France GHU Pitie Salpetriere, AP HP, Ctr Reference Pathol Neuromusculaire Paris Est, Inst Myol, F-75013 Paris, France Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainStreichenberger, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Ctr Pathol & Neuropathol Est, F-69677 Villeurbanne, France Univ Claude Bernard Lyon1, Inst NeuroMyogene, CNRS UMR 5310, INSERM U1217, F-69677 Villeurbanne, France Inst NeuroMyogene, F-69677 Villeurbanne, France Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainVia, Christophe论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Electromyog Grp Hosp Est, F-69677 Lyon, France Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainClaeys, Kristl G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Neurol, B-2333 Leuven, Belgium Univ Leuven, KU Leuven, Lab Muscle Dis & Neuropathies, Dept Neurosci,Expt Neurol, B-2333 Leuven, Belgium Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainStraathof, Chiara S. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurol, Med Ctr, NL-2333 Leiden, Netherlands Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainGoris, An论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Lab Neuroimmunol, Expt Neurol, Dept Neurosci,KU Leuven, B-2333 Leuven, Belgium Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, Spain论文数: 引用数: h-index:机构:Lammens, Martin论文数: 0 引用数: 0 h-index: 0机构: Antwerp Univ Hosp, Dept Pathol, B-2650 Edegem, Belgium Univ Antwerp, Inst Born Bunge, Lab Neuromuscular Pathol, B-2610 Antwerp, Belgium Radboud Univ Nijmegen, Dept Pathol, Med Ctr, NL-6525 Nijmegen, Netherlands Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainBassez, Guillaume论文数: 0 引用数: 0 h-index: 0机构: East Paris Univ UPEC, AP HP, Neuromuscular Reference Ctr, Henri Mondor Univ Hosp,INSERM U955,Team 10,Biol N, F-94010 Paris, France Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainKere, Juha论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Sci Life Lab, Dept Biosci & Nutr, SE-14157 Stockholm, Sweden Karolinska Univ Hosp, Clin Res Ctr, SE-17177 Huddinge, Sweden Univ Helsinki, Mol Neurol Res Program, Helsinki 00014, Finland Folkhalsan Inst Genet, Helsinki 00014, Finland Kings Coll London, Sch Basic & Med Biosci, London WC2R 2LS, England Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainClemente, Paula论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Med Biochem & Biophys, SE-17177 Stockholm, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainSejersen, Thomas论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Womens & Childrens Hlth, SE-17177 Stockholm, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainUdd, Bjarne论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Univ Tampere, Neuromuscular Res Ctr, Tampere 33521, Finland Univ Helsinki, Folkhalsan Genet Inst, Helsinki 00250, Finland Univ Tampere, Tampere Univ Hosp, Vasa Cent Hosp, Finland Neuromuscular Res Ctr,Neurol Dept, Tampere 65100, Finland Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainVidal, Noemi论文数: 0 引用数: 0 h-index: 0机构: Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Neuromuscular Unit, Barcelona 08907, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainFerrer, Isidre论文数: 0 引用数: 0 h-index: 0机构: Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Neuromuscular Unit, Barcelona 08907, Spain Univ Barcelona, CIBERNEDHosp LLobregat, Dept Pathol & Expt Therapeut, Barcelona 08907, Spain Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainEdstrom, Lars论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Ctr Mol Med, S-17177 Stockholm, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainWedell, Anna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Sci Life Lab, SE-17176 Stockholm, Sweden Karolinska Univ Hosp, Ctr Inherited Metab Dis, SE-17177 Stockholm, Sweden Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, SpainLaing, Nigel G.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 6000, Australia Hosp Llobregat, IDIBELL Hosp Bellvitge, Dept Neurol, Dept Pathol,Neuropathol Unit, Barcelona 08907, Spain
- [10] PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATIONNEUROLOGY, 2010, 74 (06) : 519 - 521Claeys, K. G.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, France Grp Hosp Pitie Salpetriere, Ctr Reference Neuromusculaire Paris Est, AP HP, F-75634 Paris, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceMaisonobe, T.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, AP HP, Serv Neuropathol, F-75634 Paris, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceBoehm, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, INSERM, CNRS, Dept Neurobiol & Genet,IGBMC,U964,UMR7104, Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceLaporte, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, INSERM, CNRS, Dept Neurobiol & Genet,IGBMC,U964,UMR7104, Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceHezode, M.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceRomero, N. B.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Ctr Reference Neuromusculaire Paris Est, AP HP, F-75634 Paris, France INSERM, U974, Paris, France Univ Paris 06, CNRS, UMR S974, UMR7215,IFR14,Inst Myol, Paris, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceBrochier, G.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceBitoun, M.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U974, Paris, France Univ Paris 06, CNRS, UMR S974, UMR7215,IFR14,Inst Myol, Paris, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceCarlier, R. Y.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Lab RMN AIM CEA, AP HP, F-75634 Paris, France Hop Raymond Poincare, Serv Radiol, Garches, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, FranceStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Ctr Reference Neuromusculaire Paris Est, AP HP, F-75634 Paris, France INSERM, U974, Paris, France Univ Paris 06, CNRS, UMR S974, UMR7215,IFR14,Inst Myol, Paris, France Grp Hosp Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, AP HP, F-75651 Paris 13, France