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- [1] 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
- [2] Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGENETICS IN MEDICINE, 2014, 16 (10) : 751 - 758Enns, Gregory M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USABainbridge, Matthew论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAGambello, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Div Med Genet, Atlanta, GA USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAZahir, Farah R.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USABast, Thomas论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kork, Kehl, Germany Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USACrimian, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USASchoch, Kelly论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Div Med Genet, Durham, NC 27706 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAPlatt, Julia论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USACox, Rachel论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USABernstein, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAScavina, Mena论文数: 0 引用数: 0 h-index: 0机构: Nemours Alfred I duPont Hosp Children, Dept Pediat, Div Pediat Neurol, Wilmington, DE USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAWalter, Rhonda S.论文数: 0 引用数: 0 h-index: 0机构: Nemours Alfred I duPont Hosp Children, Dept Pediat, Div Dev Med, Wilmington, DE USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USABibb, Audrey论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Div Med Genet, Atlanta, GA USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAJones, Melanie论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Div Med Genet, Atlanta, GA USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAHegde, Madhuri论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Div Med Genet, Atlanta, GA USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAGraham, Brett H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USANeed, Anna C.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Dept Med, London, England Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAOviedo, Angelica论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USASchaaf, Christian P.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Dalhousie Univ, Dept Pathol & Lab Med, Halifax, NS, Canada Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USABoyle, Sean论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAButte, Atul J.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAChen, Rong论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAClark, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAHaraksingh, Rajini论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USACowan, Tina M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pathol, Stanford, CA 94305 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAHe, Ping论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Med Res Inst, La Jolla, CA USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USALanglois, Svlvie论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAZoghbi, Huda Y.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA论文数: 引用数: h-index:机构:Gibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAFreeze, Hudson H.论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Med Res Inst, La Jolla, CA USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Duke Univ, Sch Med, Dept Med, Durham, NC 27706 USA Duke Univ, Sch Med, Dept Mol Genet & Microbiol, Durham, NC 27706 USA Stanford Univ, Dept Pediat, Div Med Genet, Lucile Packard Childrens Hosp, Stanford, CA 94305 USA
- [3] Neuro-ophthalmologic Features of the Neurodevelopmental Disorder NGLY1 Deficiency from a Prospective Longitudinal CohortANNALS OF NEUROLOGY, 2023, 94 : S101 - S101Levy, R.论文数: 0 引用数: 0 h-index: 0Frater, C.论文数: 0 引用数: 0 h-index: 0Beres, S.论文数: 0 引用数: 0 h-index: 0Alcorn, D.论文数: 0 引用数: 0 h-index: 0Shue, A.论文数: 0 引用数: 0 h-index: 0
- [4] Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic FeaturesGENES, 2020, 11 (07) : 1 - 12Mroczek, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandDurmus, Hacer论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Neurol, TR-34093 Istanbul, Turkey Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandTopf, Ana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandParman, Yesim论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Neurol, TR-34093 Istanbul, Turkey Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandStraub, Volker论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [5] Four individuals with a homozygous mutation in exon 1f of the PLEC gene and associated myasthenic featuresNEUROMUSCULAR DISORDERS, 2020, 30 : S90 - S90Mroczek, M.论文数: 0 引用数: 0 h-index: 0机构: JWMDRC, Newcastle Upon Tyne, Tyne & Wear, England JWMDRC, Newcastle Upon Tyne, Tyne & Wear, EnglandDurmus, H.论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Istanbul, Turkey JWMDRC, Newcastle Upon Tyne, Tyne & Wear, EnglandTopf, A.论文数: 0 引用数: 0 h-index: 0机构: JWMDRC, Newcastle Upon Tyne, Tyne & Wear, England JWMDRC, Newcastle Upon Tyne, Tyne & Wear, EnglandParman, Y.论文数: 0 引用数: 0 h-index: 0机构: Dept Neurol, Istanbul, Turkey JWMDRC, Newcastle Upon Tyne, Tyne & Wear, EnglandStraub, V.论文数: 0 引用数: 0 h-index: 0机构: JWMDRC, Newcastle Upon Tyne, Tyne & Wear, England JWMDRC, Newcastle Upon Tyne, Tyne & Wear, England
- [6] MUTATIONS IN NGLY1 CAUSE AN INHERITED DISORDER OF THE ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION (ERAD) PATHWAYMOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) : 236 - 237Enns, Gregory M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Stanford Univ, Stanford, CA 94305 USAShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Durham, NC USA Stanford Univ, Stanford, CA 94305 USAZahir, Farah论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC V5Z 1M9, Canada Stanford Univ, Stanford, CA 94305 USAGambello, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Atlanta, GA 30322 USA Stanford Univ, Stanford, CA 94305 USABainbridge, Matthew N.论文数: 0 引用数: 0 h-index: 0机构: Klin Kinder & Jugendliche Epilepsiezentrum Kork, Kehl, Germany Stanford Univ, Stanford, CA 94305 USABast, Thomas论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Stanford Univ, Stanford, CA 94305 USACrimian, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Durham, NC USA Stanford Univ, Stanford, CA 94305 USASchoch, Kelly论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Durham, NC USA Stanford Univ, Stanford, CA 94305 USAZoghbi, Huda Y.论文数: 0 引用数: 0 h-index: 0机构: Klin Kinder & Jugendliche Epilepsiezentrum Kork, Kehl, Germany Howard Hughes Med Inst, Chevy Chase, MD USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Stanford Univ, Stanford, CA 94305 USAPlatt, Julia论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Stanford Univ, Stanford, CA 94305 USACox, Rachel论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Stanford Univ, Stanford, CA 94305 USABernstein, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Stanford Univ, Stanford, CA 94305 USAScavina, Mena论文数: 0 引用数: 0 h-index: 0机构: duPont Hosp Children, Wilmington, DE USA Stanford Univ, Stanford, CA 94305 USAWalter, Rhonda S.论文数: 0 引用数: 0 h-index: 0机构: duPont Hosp Children, Wilmington, DE USA Stanford Univ, Stanford, CA 94305 USANeed, Anna C.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England Stanford Univ, Stanford, CA 94305 USAOviedo, Angelica论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC V5Z 1M9, Canada Stanford Univ, Stanford, CA 94305 USALanglois, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC V5Z 1M9, Canada Stanford Univ, Stanford, CA 94305 USABibb, Audrey论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Atlanta, GA 30322 USA Stanford Univ, Stanford, CA 94305 USAJones, Melanie论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Atlanta, GA 30322 USA Stanford Univ, Stanford, CA 94305 USAHedge, Madhuri论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Atlanta, GA 30322 USA Stanford Univ, Stanford, CA 94305 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Stanford Univ, Stanford, CA 94305 USASchaaf, Christian P.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Stanford Univ, Stanford, CA 94305 USABoyle, Sean论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Stanford Univ, Stanford, CA 94305 USAButte, Atul J.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Stanford Univ, Stanford, CA 94305 USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:He, Ping论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Med Res Inst, La Jolla, CA USA Stanford Univ, Stanford, CA 94305 USASnyder, Michael论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Stanford Univ, Stanford, CA 94305 USAFreeze, Hudson H.论文数: 0 引用数: 0 h-index: 0机构: Sanford Burnham Med Res Inst, La Jolla, CA USA Stanford Univ, Stanford, CA 94305 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Durham, NC USA Stanford Univ, Stanford, CA 94305 USA
- [7] Phenotype of PLP1-related Disorder Caused by Novel Mutation: A Case ReportMOVEMENT DISORDERS CLINICAL PRACTICE, 2018, 5 (05): : 548 - 550Kresojevic, Nikola论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Serbia, Neurol Clin, Belgrade, Serbia Clin Ctr Serbia, Neurol Clin, Belgrade, SerbiaPetrovic, Igor论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Serbia, Neurol Clin, Belgrade, Serbia Univ Belgrade, Sch Med, Belgrade, Serbia Clin Ctr Serbia, Neurol Clin, Belgrade, SerbiaDobricic, Valerija论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Serbia, Neurol Clin, Belgrade, Serbia Clin Ctr Serbia, Neurol Clin, Belgrade, SerbiaTomic, Aleksandra论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Serbia, Neurol Clin, Belgrade, Serbia Univ Belgrade, Sch Med, Belgrade, Serbia Clin Ctr Serbia, Neurol Clin, Belgrade, SerbiaBrankovic, Vesna论文数: 0 引用数: 0 h-index: 0机构: Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia Clin Ctr Serbia, Neurol Clin, Belgrade, SerbiaRasic, Vedrana Milic论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Sch Med, Belgrade, Serbia Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia Clin Ctr Serbia, Neurol Clin, Belgrade, SerbiaSvetel, Marina论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Serbia, Neurol Clin, Belgrade, Serbia Univ Belgrade, Sch Med, Belgrade, Serbia Clin Ctr Serbia, Neurol Clin, Belgrade, Serbia论文数: 引用数: h-index:机构:
- [8] Phenotype of PLP1-related disorder caused by novel mutation: A case reportMOVEMENT DISORDERS, 2017, 32Kresojevic, N.论文数: 0 引用数: 0 h-index: 0Petrovic, I.论文数: 0 引用数: 0 h-index: 0Dobricic, V.论文数: 0 引用数: 0 h-index: 0Tomic, A.论文数: 0 引用数: 0 h-index: 0Svetel, M.论文数: 0 引用数: 0 h-index: 0Kostic, V.论文数: 0 引用数: 0 h-index: 0
- [9] A novel complex neurological phenotype due to a homozygous mutation in FDX2BRAIN, 2018, 141 : 2289 - 2298Gurgel-Giannetti, Juliana论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilLynch, David S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Leonard Wolfson Expt Neurol Ctr, London, England Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilBrandao de Paiva, Anderson Rodrigues论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilLucato, Leandro Tavares论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neuroradiol Sect, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilYamamoto, Guilherme论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biociencias, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilThomsen, Christer论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Pathol & Genet, Gothenburg, Sweden Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilBasu, Somsuvro论文数: 0 引用数: 0 h-index: 0机构: Philipps Univ Marburg, Inst Cytobiol & Cytopathol, Robert Koch Str 6, D-35032 Marburg, Germany Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilFreua, Fernando论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilGiannetti, Alexandre Varella论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Dept Surg, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, Brazilde Assis, Bruno Della Ripa论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilDell Ospedale Ribeiro, Mara论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilBarcelos, Isabella论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilSouza, Katiane Sayao论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilMonti, Fernanda论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilMelo, Uira Souto论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biociencias, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilAmorim, Simone论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Sao Paulo, Neurogenet Unit, Neurol Dept, Sao Paulo, Brazil Univ Fed Minas Gerais, Dept Paediat, Belo Horizonte, MG, BrazilSilva, Leonardo G. 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- [10] A Novel Primary Atopic Disorder Associated With A Homozygous Missense Mutation in OSMRJOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (SUPPL 1) : S115 - S116Sharma, Mehul论文数: 0 引用数: 0 h-index: 0机构: BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaMichalski, Christina论文数: 0 引用数: 0 h-index: 0机构: BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaDel Bel, Kate L.论文数: 0 引用数: 0 h-index: 0机构: BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaLu, Henry论文数: 0 引用数: 0 h-index: 0机构: BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaSharma, Ashish论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Cleveland, OH 44106 USA BC Childrens Hosp, Vancouver, BC, CanadaTarailo-Graovac, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada BC Childrens Hosp, Vancouver, BC, CanadaModi, Bhavi论文数: 0 引用数: 0 h-index: 0机构: BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaDrogemoller, Britt论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Fac Pharmaceut Sci, Calgary, AB, Canada BC Childrens Hosp, Vancouver, BC, CanadaRohner, Geraldine Blanchard论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Geneva, Dept Paediat, Geneva, Switzerland BC Childrens Hosp, Vancouver, BC, CanadaSenger, Christof论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada BC Childrens Hosp, Dept Pathol & Lab Med, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaRehmus, Wingfield论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Dermatol, BC Childrens Hosp, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaPrendiville, Julie S.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Dermatol, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaRoss, Colin J.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Pharmaceut Sci, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaVan Karnebeek, Clara D. M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, British Columbia Childrens Hosp, Dept Med Genet, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaWasserman, Wyeth W.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Med, Dept Med Genet, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaMcKinnon, Margaret L.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, CanadaTurvey, Stuart论文数: 0 引用数: 0 h-index: 0机构: BC Childrens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada