共 44 条
- [1] Lamin B1 duplications cause autosomal dominant leukodystrophyNATURE GENETICS, 2006, 38 (10) : 1114 - 1123Padiath, Quasar S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USASaigoh, Kazumasa论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USASchiffmann, Raphael论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USAAsahara, Hideaki论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USAYamada, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USAKoeppen, Anulf论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USAHogan, Kirk论文数: 0 引用数: 0 h-index: 0机构: 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 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
- [2] Lamin B1 duplications cause autosomal dominant leukodystrophyNature Genetics, 2006, 38 : 1114 - 1123Quasar S Padiath论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyKazumasa Saigoh论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyRaphael Schiffmann论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyHideaki Asahara论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyTakeshi Yamada论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyAnulf Koeppen论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyKirk Hogan论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyLouis J Ptáček论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of NeurologyYing-Hui Fu论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of Neurology
- [3] Correction: Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophyNature Genetics, 2007, 39 : 276 - 276Quasar S Padiath论文数: 0 引用数: 0 h-index: 0Kazumasa Saigoh论文数: 0 引用数: 0 h-index: 0Raphael Schiffmann论文数: 0 引用数: 0 h-index: 0Hideaki Asahara论文数: 0 引用数: 0 h-index: 0Takeshi Yamada论文数: 0 引用数: 0 h-index: 0Anulf Koeppen论文数: 0 引用数: 0 h-index: 0Kirk Hogan论文数: 0 引用数: 0 h-index: 0Louis J Ptáček论文数: 0 引用数: 0 h-index: 0Ying-Hui Fu论文数: 0 引用数: 0 h-index: 0
- [4] Lamin B1 duplications cause autosomal dominant leukodystrophy (vol 38, pg 1114, 2006)NATURE GENETICS, 2007, 39 (02) : 276 - 276Padiath, Quasar S.论文数: 0 引用数: 0 h-index: 0Saigoh, Kazumasa论文数: 0 引用数: 0 h-index: 0Schiffmann, Raphael论文数: 0 引用数: 0 h-index: 0Asahara, Hideaki论文数: 0 引用数: 0 h-index: 0Yamada, Takeshi论文数: 0 引用数: 0 h-index: 0Koeppen, Anulf论文数: 0 引用数: 0 h-index: 0Hogan, Kirk论文数: 0 引用数: 0 h-index: 0Ptacek, Louis J.论文数: 0 引用数: 0 h-index: 0Fu, Ying-Hui论文数: 0 引用数: 0 h-index: 0
- [5] Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblastsFASEB JOURNAL, 2014, 28 (09): : 3906 - 3918Ferrera, Denise论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, ItalyCanale, Claudio论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Nanophys, I-16163 Genoa, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, ItalyMarotta, Roberto论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Nanochem, I-16163 Genoa, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, ItalyMazzaro, Nadia论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, ItalyGritti, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Biosci, Milan, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, ItalyMazzanti, Michele论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Biosci, Milan, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, ItalyCapellari, Sabina论文数: 0 引用数: 0 h-index: 0机构: Osped Bellaria, IRCCS, Ist Sci Neurol Bologna, Clin Neurol, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy论文数: 引用数: h-index:机构:Gasparini, Laura论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy
- [6] Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsneurogenetics, 2011, 12 : 65 - 72Jens Schuster论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryJimmy Sundblom论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryAnn-Charlotte Thuresson论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratorySharon Hassin-Baer论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryThomas Klopstock论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryMartin Dichgans论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryOren S. Cohen论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryRaili Raininko论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryAtle Melberg论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life LaboratoryNiklas Dahl论文数: 0 引用数: 0 h-index: 0机构: Uppsala University and University Hospital,Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory
- [7] Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsNEUROGENETICS, 2011, 12 (01) : 65 - 72Schuster, Jens论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, Sweden Uppsala Univ, Sci Life Lab, SE-75185 Uppsala, Sweden Univ Uppsala Hosp, SE-75185 Uppsala, Sweden Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, SwedenSundblom, Jimmy论文数: 0 引用数: 0 h-index: 0机构: Univ Uppsala Hosp, SE-75185 Uppsala, Sweden Uppsala Univ, Dept Neurosci, SE-75185 Uppsala, Sweden Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, Sweden论文数: 引用数: h-index:机构:Hassin-Baer, Sharon论文数: 0 引用数: 0 h-index: 0机构: Chaim Sheba Med Ctr, Sagol Neurosci Ctr, Dept Neurol, IL-52621 Tel Hashomer, Israel Chaim Sheba Med Ctr, Sagol Neurosci Ctr, Parkinsons Dis & Movement Disorders Clin, IL-52621 Tel Hashomer, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, SwedenKlopstock, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, SwedenDichgans, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Neurol Klin, Klinikum Grosshadern, D-8000 Munich, Germany Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, SwedenCohen, Oren S.论文数: 0 引用数: 0 h-index: 0机构: Chaim Sheba Med Ctr, Sagol Neurosci Ctr, Dept Neurol, IL-52621 Tel Hashomer, Israel Chaim Sheba Med Ctr, Sagol Neurosci Ctr, Parkinsons Dis & Movement Disorders Clin, IL-52621 Tel Hashomer, Israel Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, Sweden论文数: 引用数: h-index:机构:Melberg, Atle论文数: 0 引用数: 0 h-index: 0机构: Univ Uppsala Hosp, SE-75185 Uppsala, Sweden Uppsala Univ, Dept Neurosci, SE-75185 Uppsala, Sweden Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, Sweden论文数: 引用数: h-index:机构:
- [8] Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophyNEUROLOGY-GENETICS, 2019, 5 (01)Nmezi, Bruce论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAGiorgio, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USARaininko, Raili论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Dept Radiol, Uppsala, Sweden Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USALehman, Anna论文数: 0 引用数: 0 h-index: 0机构: British Columbia Childrens Hosp, Dept Med Genet, Vancouver, BC, Canada Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USA论文数: 引用数: h-index:机构:Koenig, Mary Kay论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Houston, McGovern Med Sch, Dept Pediat, Houston, TX USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAAdejumo, Rahmat论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Houston, McGovern Med Sch, Dept Pediat, Houston, TX USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAKnight, Melissa论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Houston, McGovern Med Sch, Dept Pediat, Houston, TX USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAGavrilova, Ralitza论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAAlturkustani, Murad论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Dept Pathol, Jeddah, Saudi Arabia Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USASharma, Manas论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept ofMed Imaging, London, ON, Canada Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAHammond, Robert论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Pathol, London, ON, Canada Western Univ, Dept Clin Neurol Sci, London, ON, Canada Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAGahl, William A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAToro, Camilo论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Off Director, Bldg 10, Bethesda, MD 20892 USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USABrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USAPadiath, Quasar S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15260 USA
- [9] Lamin B1 Accumulation's Effects on Autosomal Dominant Leukodystrophy (ADLD): Induction of Reactivity in the AstrocytesCELLS, 2021, 10 (10)Ratti, Stefano论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy论文数: 引用数: h-index:机构:Mongiorgi, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy论文数: 引用数: h-index:机构:Cappellini, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy论文数: 引用数: h-index:机构:Suh, Pann-Ghill论文数: 0 引用数: 0 h-index: 0机构: Korea Brain Res Inst, Daegu 41062, South Korea Ulsan Natl Inst Sci & Technol UNIST, Sch Life Sci, Ulsan 689798, South Korea Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, ItalyMcCubrey, James A.论文数: 0 引用数: 0 h-index: 0机构: East Carolina Univ, Dept Microbiol & Immunol, Brody Sch Med, Greenville, NC 27834 USA Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, ItalyManzoli, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy论文数: 引用数: h-index:机构:Ramazzotti, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Cellular Signalling Lab, I-40126 Bologna, Italy
- [10] A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutationsEUROPEAN JOURNAL OF NEUROLOGY, 2010, 17 (04) : 541 - 549Brussino, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy AOU San Giovanni Battista, SCDU Med Genet, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyVaula, G.论文数: 0 引用数: 0 h-index: 0机构: AOU San Giovanni Battista, SCDU Neurol 1, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyCagnoli, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy AOU San Giovanni Battista, SCDU Med Genet, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyPanza, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Gynecol Obstet & Pediat Sci, UO Med Genet, Bologna, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalySeri, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Gynecol Obstet & Pediat Sci, UO Med Genet, Bologna, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyDi Gregorio, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy AOU San Giovanni Battista, SCDU Med Genet, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyScappaticci, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Biol & Med Genet, I-27100 Pavia, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyCamanini, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Biol & Med Genet, I-27100 Pavia, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyDaniele, D.论文数: 0 引用数: 0 h-index: 0机构: AOU San Giovanni Battista, SCDU Neuroradiol, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyBradac, G. B.论文数: 0 引用数: 0 h-index: 0机构: AOU San Giovanni Battista, SCDU Neuroradiol, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyPinessi, L.论文数: 0 引用数: 0 h-index: 0机构: AOU San Giovanni Battista, SCDU Neurol 1, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyCavalieri, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy AOU San Giovanni Battista, SCDU Med Genet, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyGrosso, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy AOU San Giovanni Battista, SCDU Med Genet, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyMigone, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy AOU San Giovanni Battista, SCDU Med Genet, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, ItalyBrusco, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy AOU San Giovanni Battista, SCDU Med Genet, Turin, Italy Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy