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- [1] Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular DystrophyJOURNAL OF OPHTHALMOLOGY, 2021, 2021Xiang, Qin论文数: 0 引用数: 0 h-index: 0机构: Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R China Changsha Med Univ, Ctr Neurosci & Behav, Changsha, Peoples R China Changsha Med Univ, Acad Working Stn, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaCao, Yanna论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Dept Ophthalmol, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaXu, Hongbo论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaYang, Zhijian论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaTang, Liang论文数: 0 引用数: 0 h-index: 0机构: Changsha Med Univ, Ctr Neurosci & Behav, Changsha, Peoples R China Changsha Med Univ, Acad Working Stn, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaXiang, Ju论文数: 0 引用数: 0 h-index: 0机构: Changsha Med Univ, Ctr Neurosci & Behav, Changsha, Peoples R China Changsha Med Univ, Acad Working Stn, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaLi, Jianming论文数: 0 引用数: 0 h-index: 0机构: Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R China Xiangya Boai Rehabil Hosp, Dept Rehabil, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaDeng, Hao论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R ChinaYuan, Lamei论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Peoples R China Changsha Med Univ, Dept Basic Biol, Changsha, Peoples R China
- [2] Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementiaACTA NEUROPATHOLOGICA, 2019, 137 (01) : 71 - 88Geier, Ethan G.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USABourdenx, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Dev & Mol Biol, Inst Aging Studies, New York, NY 10461 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAStorm, Nadia J.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Dev & Mol Biol, Inst Aging Studies, New York, NY 10461 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USACochran, J. Nicholas论文数: 0 引用数: 0 h-index: 0机构: HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USASirkis, Daniel W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Berkeley, Dept Mol & Cell Biol, Howard Hughes Med Inst, 229 Stanley Hall, Berkeley, CA 94720 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAHwang, Ji-Hye论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USABonham, Luke W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USARamos, Eliana Marisa论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USADiaz, Antonio论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Dev & Mol Biol, Inst Aging Studies, New York, NY 10461 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAVan Berlo, Victoria论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USADokuru, Deepika论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USANana, Alissa L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAKarydas, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USABalestra, Maureen E.论文数: 0 引用数: 0 h-index: 0机构: Gladstone Inst Neurol Dis, San Francisco, CA USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAHuang, Yadong论文数: 0 引用数: 0 h-index: 0机构: Gladstone Inst Neurol Dis, San Francisco, CA USA Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USARusso, Silvia P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USASpina, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAGrinberg, Lea T.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USASeeley, William W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAMyers, Richard M.论文数: 0 引用数: 0 h-index: 0机构: HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAMiller, Bruce L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USACoppola, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USALee, Suzee E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USACuervo, Ana Maria论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Dev & Mol Biol, Inst Aging Studies, New York, NY 10461 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USAYokoyama, Jennifer S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Dept Neurol, Memory & Aging Ctr, 675 Nelson Rising Lane,Suite 190, San Francisco, CA 94158 USA
- [3] A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial VariabilityINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (04)Reith, Milda论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyZeltner, Lena论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, D-72076 Tubingen, Germany Univ Tubingen, Ctr Rare Dis, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanySchaeferhoff, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyWitt, Dennis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyZuleger, Theresia论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Ctr Rare Dis, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyBornemann, Antje论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Univ Hosp Tubingen, Dept Neuropathol, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyAlber, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Neuropaediat, Dev Neurol Social Paediat, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyRuf, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Neuropaediat, Dev Neurol Social Paediat, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanySchoels, Ludger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, D-72076 Tubingen, Germany Univ Tubingen, Ctr Rare Dis, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyStingl, Katarina论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, GermanyWeisschuh, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Ophthalm Res, Ctr Ophthalmol, D-72076 Tubingen, Germany Univ Tubingen, Univ Eye Hosp, Ctr Ophthalmol, D-72076 Tubingen, Germany
- [4] Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosisBRAIN, 2009, 132 : 810 - 819Kousi, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, Finland Univ Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandSiintola, Eija论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, Finland Univ Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandDvorakova, Lenka论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic Univ Hosp, Prague, Czech Republic Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandVlaskova, Hana论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic Univ Hosp, Prague, Czech Republic Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandTurnbull, Julie论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandTopcu, Meral论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat, Sect Child Neurol, TR-06100 Ankara, Turkey Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandYuksel, Deniz论文数: 0 引用数: 0 h-index: 0机构: Dr Sami Ulus Childrens Hosp, Ankara, Turkey Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandGokben, Sarenur论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Pediat, Izmir, Turkey Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandMinassian, Berge A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandElleder, Milan论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic Univ Hosp, Prague, Czech Republic Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandMole, Sara E.论文数: 0 引用数: 0 h-index: 0机构: UCL, MRC Lab Mol Cell Biol, Gen & Adolescent Paediat Unit, UCL Inst Child Hlth, London, England UCL, Dept Genet Environm & Evolut, London, England Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, FinlandLehesjoki, Anna-Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, Finland Univ Helsinki, Ctr Neurosci, FIN-00014 Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet, Dept Med Genet, Biomedicum Helsinki, FIN-00014 Helsinki, Finland
- [5] AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 diseaseJOURNAL OF CLINICAL INVESTIGATION, 2022, 132 (05)Chen, Xin论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USADong, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USAHu, Yuhui论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USAShaffo, Frances C.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USABelur, Nandkishore R.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Ken & Ruth Davee Dept Neurol, Chicago, IL 60611 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USAMazzulli, Joseph R.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Feinberg Sch Med, Ken & Ruth Davee Dept Neurol, Chicago, IL 60611 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USAGray, Steven J.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USA Univ Texas Southwestern Med Ctr Dallas, Dept Pediat, 5323 Harry Hines Blvd, Dallas, TX 75390 USA
- [6] Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosisANIMAL GENETICS, 2024, 55 (06) : 801 - 809Rietmann, Stefan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, Switzerland Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, SwitzerlandLoderstedt, Shenja论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Dept Small Anim, Leipzig, Germany Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, SwitzerlandMatiasek, Kaspar论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Ctr Clin Vet Med, Sect Clin & Comparat Neuropathol, Munich, Germany Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, SwitzerlandKiefer, Ingmar论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Dept Small Anim, Leipzig, Germany Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, SwitzerlandJagannathan, Vidhya论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, Switzerland Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, SwitzerlandLeeb, Tosso论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, Switzerland Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, Switzerland
- [7] Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis PigmentosaFRONTIERS IN GENETICS, 2021, 12Wang, Yihui论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Anim Models Human Dis, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R ChinaTeng, Yanling论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Anim Models Human Dis, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R ChinaLiang, Desheng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Anim Models Human Dis, Changsha, Peoples R China Hunan Jiahui Genet Hosp, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R ChinaLi, Zhuo论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Anim Models Human Dis, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R ChinaWu, Lingqian论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Hunan Key Lab Anim Models Human Dis, Changsha, Peoples R China Hunan Jiahui Genet Hosp, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Ctr Med Genet, Hunan Key Lab Med Genet, Changsha, Peoples R China
- [8] A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophyOPHTHALMIC GENETICS, 2023, 44 (06) : 606 - 609Beckman, Madeline论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Sch Med, Cleveland, OH USA Case Western Reserve Univ, Sch Med, Cleveland, OH USAClevenger, Leanne论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Cole Eye Inst, 9500 Euclid Ave,Desk i32, Cleveland, OH 44195 USA Case Western Reserve Univ, Sch Med, Cleveland, OH USADeBenedictis, Meghan J. J.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Cole Eye Inst, 9500 Euclid Ave,Desk i32, Cleveland, OH 44195 USA Case Western Reserve Univ, Sch Med, Cleveland, OH USAYuan, Alex论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Cole Eye Inst, 9500 Euclid Ave,Desk i32, Cleveland, OH 44195 USA Case Western Reserve Univ, Sch Med, Cleveland, OH USASharma, Sumit论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Cole Eye Inst, 9500 Euclid Ave,Desk i32, Cleveland, OH 44195 USA Case Western Reserve Univ, Sch Med, Cleveland, OH USA
- [9] A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosisBMC VETERINARY RESEARCH, 2015, 10Guo, Juyuan论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USAO'Brien, Dennis P.论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Coll Vet Med, Dept Vet Med & Surg, Columbia, MO 65211 USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USAMhlanga-Mutangadura, Tendai论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USAOlby, Natasha J.论文数: 0 引用数: 0 h-index: 0机构: N Carolina State Univ, Coll Vet Med, Dept Clin Sci, Raleigh, NC 27695 USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USATaylor, Jeremy F.论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Coll Agr Food & Nat Resources, Div Anim Sci, Columbia, MO USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USASchnabel, Robert D.论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Coll Agr Food & Nat Resources, Div Anim Sci, Columbia, MO USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USAKatz, Martin L.论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Sch Med, Mason Eye Inst, Columbia, MO USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USAJohnson, Gary S.论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA
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