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- [42] Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic optionsJOURNAL OF THE CHINESE MEDICAL ASSOCIATION, 2024, 87 (01) : 12 - 16Hu, Jui-Lin论文数: 0 引用数: 0 h-index: 0机构: Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanHsu, Chih-Chien论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Ophthalmol, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Coll Med, Sch Med, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanHsiao, Yu-Jer论文数: 0 引用数: 0 h-index: 0机构: Natl Yang Ming Chiao Tung Univ, Coll Med, Sch Med, Taipei, Taiwan Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanLin, Yi-Ying论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanLai, Wei-Yi论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanLiu, Yu-Hao论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanWang, Chia-Lin论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanKo, Yu-Ling论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanTsai, Ming-Long论文数: 0 引用数: 0 h-index: 0机构: Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanTseng, Huan-Chin论文数: 0 引用数: 0 h-index: 0机构: Natl Yang Ming Chiao Tung Univ, Coll Med, Sch Med, Taipei, Taiwan Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanChien, Yueh论文数: 0 引用数: 0 h-index: 0机构: Natl Yang Ming Chiao Tung Univ, Coll Med, Sch Med, Taipei, Taiwan Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Taipei Vet Gen Hosp, Dept Med Res, 201,Sect 2,Shi Pai Rd, Taipei 112, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, TaiwanYang, Yi-Ping论文数: 0 引用数: 0 h-index: 0机构: Natl Yang Ming Chiao Tung Univ, Coll Med, Sch Med, Taipei, Taiwan Taipei Vet Gen Hosp, Dept Med Res, Taipei, Taiwan Taipei Vet Gen Hosp, Dept Med Res, 201,Sect 2,Shi Pai Rd, Taipei 112, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Pharmacol, Coll Med, Taipei, Taiwan
- [43] A novel case provides new evidence of the occurrence of hereditary pathogenic variants in the RERE geneEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 487 - 487Marsal-Olivan, Aina论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainDiaz, Asuncion论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Pediat Dept, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainVega, Lourdes论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainBaena, Manel论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainBoronat, Susana论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Pediat Dept, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainCusco, Ivon论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainSurralles, Jordi论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainRodriguez-Santiago, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, Spain Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, SpainSerra-Juhe, Clara论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Genet Dept, Barcelona, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Biomed Res Inst IIB St Pau, Hosp Santa Creu & St Pau, Join Res Unit Genom Med UAB IR St Pau, Barcelona, Spain
- [44] Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathyANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (01): : 154 - 160Otero, Maria G.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USATiongson, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Div Neurol, Los Angeles, CA 90027 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USADiaz, Frank论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAHaude, Katrina论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAPanzer, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Stead Family Childrens Hosp, Iowa City, IA 52242 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USACollier, Ashley论文数: 0 引用数: 0 h-index: 0机构: Eastern Hlth, Prov Med Genet Program, St John, NF, Canada Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAKim, Jaemin论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAAdams, David论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Off Rare Dis Res, Bldg 10, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USATifft, Cynthia J.论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Off Rare Dis Res, Bldg 10, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USACui, Hong论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAMillian Zamora, Francisca论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAAu, Margaret G.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAGraham, John M.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USABuckley, David J.论文数: 0 引用数: 0 h-index: 0机构: Janeway Hlth Ctr, Dept Pediat, St John, NF, Canada Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USALewis, Richard论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAToro, Camilo论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Off Rare Dis Res, Bldg 10, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USABai, Renkui论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USATurner, Lesley论文数: 0 引用数: 0 h-index: 0机构: Mem Univ Newfoundland, Fac Med, St John, NF, Canada Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAMathews, Katherine D.论文数: 0 引用数: 0 h-index: 0机构: Eastern Hlth, Prov Med Genet Program, St John, NF, Canada Univ Iowa, Dept Neurol, Stead Family Childrens Hosp, Iowa City, IA 52242 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAGahl, William论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Off Rare Dis Res, Bldg 10, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USA NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USAPierson, Tyler Mark论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr, Board Governors Regenerat Med Inst, Los Angeles, CA 90048 USA
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