共 26 条
- [1] Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular InvolvementAMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (06) : 948 - 954El-Asrag, Mohammed E.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England Benha Univ, Dept Zool, Fac Sci, Banha 13511, Egypt Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandSergouniotis, Panagiotis I.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 9EL, England Univ Manchester, Inst Human Dev, Fac Med & Human Sci, Manchester M13 9WL, Lancs, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandMcKibbin, Martin论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Dept Ophthalmol, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet Inst, London WC1E 6BT, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandSheridan, Eamonn论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandWaseem, Naushin论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 9EL, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandAbdelhamed, Zakia论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandMcKeefry, Declan论文数: 0 引用数: 0 h-index: 0机构: Univ Bradford, Bradford Sch Optometry & Visual Sci, Bradford BD7 1DP, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandVan Schil, Kristof论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandPoulter, James A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandJohnson, Colin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandCarr, Ian M.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandLeroy, Bart P.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Ophthalmol, B-9000 Ghent, Belgium Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England论文数: 引用数: h-index:机构:Inglehearn, Chris F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England论文数: 引用数: h-index:机构:Ali, Manir论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sect Ophthalmol & Neurosci, Leeds Inst Biomed & Clin Sci, Leeds LS9 7TF, W Yorkshire, England
- [2] Contribution of DRAM2 gene in inherited retinal dystrophies with early macular involvementEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1230 - 1230Abad-Morales, V.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, SpainRuiz-Nogales, S.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, SpainNavarro, R.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Retina, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, SpainMendez, P.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, SpainRiera, M.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, SpainBures-Jelstrup, A.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Retina, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, SpainCorcostegui, B.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Retina, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, SpainPomares, E.论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain
- [3] Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GeneINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (13) : 8083 - 8090Sergouniotis, Panagiotis I.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England Manchester Royal Eye Hosp, Manchester M13 9WH, Lancs, England Univ Manchester, Inst Human Dev, Ctr Ophthalmol & Vis Sci, Manchester, Lancs, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandMcKibbin, Martin论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Dept Ophthalmol, Leeds LS9 7TF, W Yorkshire, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandRobson, Anthony G.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England Manchester Eye Hosp, London, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandBolz, Hanno J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Bioscientia Ctr Human Genet, Ingelheim, Germany UCL Inst Ophthalmol, London EC1V 9EL, England论文数: 引用数: h-index:机构:Mueller, Philipp L.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Ophthalmol, Bonn, Germany UCL Inst Ophthalmol, London EC1V 9EL, EnglandHeller, Raoul论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Inst Human Genet, Cologne, Germany UCL Inst Ophthalmol, London EC1V 9EL, EnglandEl-Asrag, Mohammed E.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England Benha Univ, Dept Zool, Banha, Egypt UCL Inst Ophthalmol, London EC1V 9EL, EnglandVan Schil, Kristof论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Ghent, Belgium UCL Inst Ophthalmol, London EC1V 9EL, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL Genet Inst, London, England UCL Inst Ophthalmol, London EC1V 9EL, England论文数: 引用数: h-index:机构:Ali, Manir论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandHolder, Graham E.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England Manchester Eye Hosp, London, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandIssa, Peter Charbel论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Ophthalmol, Bonn, Germany UCL Inst Ophthalmol, London EC1V 9EL, England论文数: 引用数: h-index:机构:Inglehearn, Chris F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds, W Yorkshire, England UCL Inst Ophthalmol, London EC1V 9EL, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, London EC1V 9EL, England Manchester Eye Hosp, London, England UCL Inst Ophthalmol, London EC1V 9EL, England
- [4] Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutationsEXPERIMENTAL EYE RESEARCH, 2019, 187Abad-Morales, Victor论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurg Ocular, Barcelona, SpainBures-Jelstrup, Anniken论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain IMO, Dept Retina, Barcelona, Spain Fundacio Recerca Inst Microcirurg Ocular, Barcelona, SpainNavarro, Rafael论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain IMO, Dept Retina, Barcelona, Spain Fundacio Recerca Inst Microcirurg Ocular, Barcelona, SpainRuiz-Nogales, Sheila论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurg Ocular, Barcelona, SpainMendez-Vendrell, Pilar论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurg Ocular, Barcelona, SpainCorcostegui, Borja论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain IMO, Dept Retina, Barcelona, Spain Fundacio Recerca Inst Microcirurg Ocular, Barcelona, SpainPomares, Esther论文数: 0 引用数: 0 h-index: 0机构: Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain IMO, Dept Genet, Barcelona, Spain Fundacio Recerca Inst Microcirurg Ocular, Barcelona, Spain
- [5] DRAM2 (Damage Regulated Autophagy Regulator 2), a Novel p53 Inducible Transmembrane Protein related to DRAM, regulates autophagyCANCER RESEARCH, 2009, 69Jang, Ik-Soon论文数: 0 引用数: 0 h-index: 0机构: Korea Basic Sci Inst, Taejon, South KoreaLee, Seung-Hoon论文数: 0 引用数: 0 h-index: 0机构: Korea Basic Sci Inst, Taejon, South KoreaPark, Junsoo论文数: 0 引用数: 0 h-index: 0机构: Korea Basic Sci Inst, Taejon, South Korea
- [6] Biallelic mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) cause an early onset retinal dystrophy and high myopiaINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Robson, Anthony G.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London, England UCL Inst Ophthalmol, Visual Neurosci, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London, EnglandHolder, Graham E.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London, England UCL Inst Ophthalmol, Visual Neurosci, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London, EnglandWebster, Andrew论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, Inherited Eye Dis, London, England Moorfields Eye Hosp, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet Inst, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London, EnglandMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, Inherited Eye Dis, London, England Moorfields Eye Hosp, London, England UCL Inst Ophthalmol, Inherited Eye Dis, London, England
- [7] Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseBRAIN, 2019, 142 : 3876 - 3891Esposito, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, Italy Univ Genoa, Dept Expt Med, Viale Benedetto XV Genoa, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, Italy论文数: 引用数: h-index:机构:Wagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, Germany Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyGal, Moran论文数: 0 引用数: 0 h-index: 0机构: Bar Ilan Univ, Mina & Everard Goodman Fac Life Sci, Ramat Gan, Israel Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyMei, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Neurogenet & Neurobiol Unit & Labs, Pediat Neurol, Childrens Hosp A Meyer, Florence, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, Italy论文数: 引用数: h-index:机构:Pisano, Tiziana论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Neurogenet & Neurobiol Unit & Labs, Pediat Neurol, Childrens Hosp A Meyer, Florence, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyAprile, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Expt Med, Viale Benedetto XV Genoa, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyCerullo, Maria Sabina论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, Italy Univ Genoa, Dept Expt Med, Viale Benedetto XV Genoa, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyDe Fusco, Antonio论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, Italy Univ Genoa, Dept Expt Med, Viale Benedetto XV Genoa, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyGiovedi, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Expt Med, Viale Benedetto XV Genoa, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalySeibt, Annette论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Univ Childrens Hosp Duesseldorf, Med Fac, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyMagen, Daniella论文数: 0 引用数: 0 h-index: 0机构: Technion, Rappaport Sch Med, Haifa, Israel Rambam Hlth Care Campus, Pediat Nephrol Inst, Haifa, Israel Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyPolster, Tilman论文数: 0 引用数: 0 h-index: 0机构: Bethel Epilepsy Ctr, Pediat Epileptol, Bielefeld, Germany Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyEran, Ayelet论文数: 0 引用数: 0 h-index: 0机构: Technion, Rappaport Sch Med, Haifa, Israel Rambam Hlth Care Campus, Dept Radiol, Haifa, Israel Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyStenton, Sarah L.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyFiorillo, Chiara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Gaslini, Paediat Neurol & Neuromuscular Disorders, Genoa, Italy Univ Genoa, DINOGMI, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyRavid, Sarit论文数: 0 引用数: 0 h-index: 0机构: Technion, Rappaport Sch Med, Haifa, Israel Rambam Hlth Care Campus, Pediat Neurol Unit, Meyer Childrens Hosp, Haifa, Israel Rambam Hlth Care Campus, Epilepsy Serv, Meyer Childrens Hosp, Haifa, Israel Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyMayatepek, Ertan论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Univ Childrens Hosp Duesseldorf, Med Fac, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyHafner, Hava论文数: 0 引用数: 0 h-index: 0机构: Technion, Rappaport Sch Med, Haifa, Israel Rambam Hlth Care Campus, Neurosurg Lab, Haifa, Israel Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyWortmann, Saskia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyLevanon, Erez Y.论文数: 0 引用数: 0 h-index: 0机构: Bar Ilan Univ, Mina & Everard Goodman Fac Life Sci, Ramat Gan, Israel Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyMarini, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Neurogenet & Neurobiol Unit & Labs, Pediat Neurol, Childrens Hosp A Meyer, Florence, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyMandel, Hanna论文数: 0 引用数: 0 h-index: 0机构: Technion, Rappaport Sch Med, Haifa, Israel Rambam Hlth Care Campus, Metab Unit, Haifa, Israel Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyBenfenati, Fabio论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, Italy IRCCS Osped Policlin San Martino, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyDistelmaier, Felix论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Univ Childrens Hosp Duesseldorf, Med Fac, Dept Gen Pediat Neonatol & Pediat Cardiol, Dusseldorf, Germany Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyFassio, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Expt Med, Viale Benedetto XV Genoa, Genoa, Italy IRCCS Osped Policlin San Martino, Genoa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, ItalyGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Neurogenet & Neurobiol Unit & Labs, Pediat Neurol, Childrens Hosp A Meyer, Florence, Italy IRCCS Fdn Stella Maris, Pisa, Italy Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, Genoa, Italy
- [8] Mutations in MFSD8 cause early and late onset Autosomal Recessive Macular Dystrophy in SwitzerlandINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)Vaclavik, Veronika论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, Switzerland Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, SwitzerlandSchorderet, Daniel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, Switzerland Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, SwitzerlandMunier, Francis L.论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, Switzerland Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, SwitzerlandHoai Viet Tran论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, Switzerland Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, SwitzerlandTodorova, Margarita论文数: 0 引用数: 0 h-index: 0机构: Univ Eye Hosp, Basel, Switzerland Univ Lausanne, Oculogenet Unit, Jules Gonin Eye Hosp, Lausanne, Switzerland
- [9] MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW (RDS) GENE CAN CAUSE EITHER RETINITIS-PIGMENTOSA OR MACULAR DYSTROPHYNATURE GENETICS, 1993, 3 (03) : 213 - 218WELLS, J论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDWROBLEWSKI, J论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDKEEN, J论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDINGLEHEARN, C论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDJUBB, C论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDECKSTEIN, A论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDJAY, M论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDARDEN, G论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDBHATTACHARYA, S论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDFITZKE, F论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLANDBIRD, A论文数: 0 引用数: 0 h-index: 0机构: MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,CITY RD,LONDON EC1V 2PD,ENGLAND
- [10] Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel functionHUMAN GENETICS, 2023, 142 (04) : 577 - 593Xu, Ping论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaChen, Zhuolin论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 3, Dept Neurol, Guangzhou 510630, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaMa, Jianchi论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Sch Med, Guangdong Prov Key Lab Brain Funct & Dis, Guangzhou 510080, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaShan, Yongli论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Stem Cell Biol & Regenerat Med, Guangzhou Inst Biomed & Hlth, CAS Key Lab Regenerat Biol,Guangdong Prov Key Lab, Guangzhou 510530, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaWang, Yuan论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaXie, Bingbing论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaZheng, Dandan论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaGuo, Fuying论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaSong, Xiaojing论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaGao, Guanjie论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaYe, Ke论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaLiu, Yizhi论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaPan, Guangjin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Stem Cell Biol & Regenerat Med, Guangzhou Inst Biomed & Hlth, CAS Key Lab Regenerat Biol,Guangdong Prov Key Lab, Guangzhou 510530, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaJiang, Bin论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Sch Med, Guangdong Prov Key Lab Brain Funct & Dis, Guangzhou 510080, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaPeng, Fuhua论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 3, Dept Neurol, Guangzhou 510630, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R ChinaZhong, Xiufeng论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangdong Prov Key Lab Ophthalmol & Visual Sci, Guangzhou 510060, Peoples R China