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- [21] Shedding light on NGLY1 deficiency: a call for awareness and supportJournal of Rare Diseases, 2 (1):Zainab Hasan论文数: 0 引用数: 0 h-index: 0机构: Karachi Medical and Dental College,Department of MedicineSyed Muhammad Farzan Ali Warsi论文数: 0 引用数: 0 h-index: 0机构: Karachi Medical and Dental College,Department of Medicine
- [22] A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiencyELIFE, 2020, 9 : 1 - 22Talsness, Dana M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAOwings, Katie G.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USACoelho, Emily论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAMercenne, Gaelle论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Div Nephrol & Hypertens, Salt Lake City, UT 84112 USA Univ Utah, Mol Med Program, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAPleinis, John M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Div Nephrol & Hypertens, Salt Lake City, UT 84112 USA Univ Utah, Mol Med Program, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAPartha, Raghavendran论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Computat & Syst Biol, Pittsburgh, PA USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAHope, Kevin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAZuberi, Aamir R.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Genet Resource Sci, 600 Main St, Bar Harbor, ME 04609 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAClark, Nathan L.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USALutz, Cathleen M.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Genet Resource Sci, 600 Main St, Bar Harbor, ME 04609 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USARodan, Aylin R.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Internal Med, Div Nephrol & Hypertens, Salt Lake City, UT 84112 USA Univ Utah, Mol Med Program, Salt Lake City, UT USA Vet Affairs Salt Lake City Hlth Care Syst, Med Serv, Salt Lake City, UT USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USAChow, Clement Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA
- [23] Ocular features of NGLY1 deficiency from a prospective longitudinal cohortJOURNAL OF AAPOS, 2024, 28 (03):Frater, Christina H.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USA Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USARuzhnikov, Maura R. Z.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USA Stanford Univ, Div Med Genet, Palo Alto, CA USA Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USABeres, Shannon论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USA Stanford Univ, Byers Eye Inst, Dept Ophthalmol, Palo Alto, CA USA Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USAAlcorn, Deborah论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Byers Eye Inst, Dept Ophthalmol, Palo Alto, CA USA Stanford Univ, Dept Pediat, Palo Alto, CA USA Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USAShue, Ann论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Byers Eye Inst, Dept Ophthalmol, Palo Alto, CA USA Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USALevy, Rebecca J.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USA Stanford Univ, Neurol & Neurol Sci, Palo Alto, CA USA
- [24] NGLY1 Deficiency: A Rare Newly Described Condition with a Typical PresentationLIFE-BASEL, 2021, 11 (03):Dabaj, Ivana论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceSudrie-Arnaud, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Metab Biochem, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceLecoquierre, Francois论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Genet, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Reference Ctr Dev Disorders, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceRaymond, Kimiyo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55902 USA Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceDucatez, Franklin论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceGuerrot, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Genet, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Reference Ctr Dev Disorders, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceSnanoudj, Sarah论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Metab Biochem, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceCoutant, Sophie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Genet, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Reference Ctr Dev Disorders, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceSaugier-Veber, Pascale论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Genet, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Reference Ctr Dev Disorders, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceMarret, Stephane论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceNicolas, Gael论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Genet, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Reference Ctr Dev Disorders, INSERM U1245, UNIROUEN,CHU Rouen,FHU G4 Genom, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceTebani, Abdellah论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Metab Biochem, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, FranceBekri, Soumeya论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Dept Metab Biochem, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France Normandie Univ, Dept Neonatal Pediat Intens Care & Neuropediat, INSERM U1245, UNIROUEN,CHU Rouen, F-76000 Rouen, France
- [25] Correction to: Reversibility of motor dysfunction in the rat model of NGLY1 deficiencyMolecular Brain, 14Makoto Asahina论文数: 0 引用数: 0 h-index: 0机构: T-CiRA Discovery,Glycometabolic Biochemistry LaboratoryReiko Fujinawa论文数: 0 引用数: 0 h-index: 0机构: T-CiRA Discovery,Glycometabolic Biochemistry LaboratoryHiroto Hirayama论文数: 0 引用数: 0 h-index: 0机构: T-CiRA Discovery,Glycometabolic Biochemistry LaboratoryRyuichi Tozawa论文数: 0 引用数: 0 h-index: 0机构: T-CiRA Discovery,Glycometabolic Biochemistry LaboratoryYasushi Kajii论文数: 0 引用数: 0 h-index: 0机构: T-CiRA Discovery,Glycometabolic Biochemistry LaboratoryTadashi Suzuki论文数: 0 引用数: 0 h-index: 0机构: T-CiRA Discovery,Glycometabolic Biochemistry Laboratory
- [26] Clarifying the phenotype of NGLY1 deficiency, the first congenital disorder of deglycosylationMOLECULAR GENETICS AND METABOLISM, 2015, 114 (03) : 315 - 316Lam, Christina论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAFerreira, Carlos论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAKrasnewich, Donna论文数: 0 引用数: 0 h-index: 0机构: NIGMS, Div Genet & Dev Biol, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAToro, Camillo论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USALatham, Lea论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Off Clin Director, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAZein, Wadih论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Clin Genet Sect, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USALehky, Tanya论文数: 0 引用数: 0 h-index: 0机构: NINDS, Electromyog Sect, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USABrewer, Carmen论文数: 0 引用数: 0 h-index: 0机构: NIDCD, Otolcayngol Branch, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAKing, Kelly论文数: 0 引用数: 0 h-index: 0机构: NIDCD, Otolcayngol Branch, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAWassif, Christopher论文数: 0 引用数: 0 h-index: 0机构: NIDCD, Otolcayngol Branch, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USARosenzweig, Sergio论文数: 0 引用数: 0 h-index: 0机构: NIH, CC, Serv Immunol, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USALyons, Jonathan论文数: 0 引用数: 0 h-index: 0机构: NIAID, Genet & Pathogenesis Allergy Sect, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAGahl, William论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD USA NIH, Undiagnosed Dis Program, Bethesda, MD USA NHGRI, Off Clin Director, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USAWolfe, Lynne论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bethesda, MD USA NHGRI, Off Clin Director, NIH, Bethesda, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD USA
- [27] Evidence for hyperactivation of innate immunity in a Drosophila model of NGLY1 deficiencyGLYCOBIOLOGY, 2021, 31 (12) : 1715 - 1716Pandey, Ashutosh论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USA Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USAHan, Seung Yeop论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USA Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USAMueller, William F.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USAStory, Benjamin A.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USA论文数: 引用数: h-index:机构:Steinmetz, Lars论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab EMBL, Genome Biol Unit, Heidelberg, Germany Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USAJafar-Nejad, Hamed论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USA Baylor Coll Med, Dept Human & Mol Genet, Houston, TX USA
- [28] Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient*EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (08)Nolan, D. K.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH 43205 USA Ohio State Univ, Dept Anthropol, Columbus, OH USA Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH 43205 USAPastore, M. T.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH 43205 USA Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH 43205 USAMcBride, K. L.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH 43205 USA Ohio State Univ, Dept Pediat, Coll Med, Columbus, OH USA Nationwide Childrens Hosp, Ctr Cardiovasc Res, Columbus, OH USA Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH 43205 USA
- [29] Mutations in NGLY1 gene linked with new genetic disorderAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (07)Levenson, Deborah论文数: 0 引用数: 0 h-index: 0
- [30] Mitochondrial function requires NGLY1MITOCHONDRION, 2018, 38 : 6 - 16Kong, Jianping论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAPeng, Min论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAOstrovsky, Julian论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAKwon, Young Joon论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAOretsky, Olga论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAMcCormick, Elizabeth M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAHe, Miao论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAArgon, Yair论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAFalk, Marni J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA