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- [1] Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunitiesJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2021, 92 (09): : 942 - 949Muratet, Francois论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceTeyssou, Elisa论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceChiot, Aude论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceBoillee, Severine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceLobsiger, Christian S.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceBohl, Delphine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceGyorgy, Beata论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceGuegan, Justine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceMarie, Yannick论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceAmador, Maria del Mar论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Hop La Pitie Salpetriere, AP HP, Ctr Reference SLA Ile France, Dept Neurol, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceSalachas, Francois论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference SLA Ile France, Dept Neurol, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceMeininger, Vincent论文数: 0 引用数: 0 h-index: 0机构: Hop Peupliers, Ramsay Gen Hlth Grp, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceBernard, Emilien论文数: 0 引用数: 0 h-index: 0机构: Univ Lyon, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Ctr Reference SLA, Bron, Auvergne Rhone, France Univ Claude Bernard Lyon I, Inst NeuroMyoGene, CNRS UMR5310, INSERM U1217,Fac Med Rockefeller, Lyon, Auvergne Rhone, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceAntoine, Jean-Christophe论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Hop Nord, Ctr Ressource & Competence SLA, Serv Neurol, St Etienne, Rhone Alpes, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceCamdessanche, Jean-Philippe论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Hop Nord, Ctr Ressource & Competence SLA, Serv Neurol, St Etienne, Rhone Alpes, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceCamu, William论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Hop Gui Chauliac, Ctr Reference SLA, Montpellier, Languedoc Rouss, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceCazeneuve, Cecile论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Neurogenet Mol & Cellulaire, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceFauret-Amsellem, Anne-Laure论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Neurogenet Mol & Cellulaire, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceLeguern, Eric论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Unite Fonct Neurogenet Mol & Cellulaire, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceMouzat, Kevin论文数: 0 引用数: 0 h-index: 0机构: CHU Nimes, Lab Biochim & Biol Mol, Nimes, Languedoc Rouss, France Univ Montpellier, Motoneuron Disease Pathophys & Therapy, INM, INSERM, Montpellier, Languedoc Rouss, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceGuissart, Claire论文数: 0 引用数: 0 h-index: 0机构: CHU Nimes, Lab Biochim & Biol Mol, Nimes, Languedoc Rouss, France Univ Montpellier, Motoneuron Disease Pathophys & Therapy, INM, INSERM, Montpellier, Languedoc Rouss, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceLumbroso, Serge论文数: 0 引用数: 0 h-index: 0机构: CHU Nimes, Lab Biochim & Biol Mol, Nimes, Languedoc Rouss, France Univ Montpellier, Motoneuron Disease Pathophys & Therapy, INM, INSERM, Montpellier, Languedoc Rouss, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceCorcia, Philippe论文数: 0 引用数: 0 h-index: 0机构: CHRU Tours, Dept Neurol, Ctr Reference SLA, Tours, Ctr Val Loire, France Univ Tours, Inserm, UMR 1253, Tours, Ctr Val Loire, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceVourc'h, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Tours, Inserm, UMR 1253, Tours, Ctr Val Loire, France CHU Tours, Serv Biochim & Biol Mol, Tours, Ctr Val De Loir, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceGrapperon, Aude-Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Marseille, Hop Timone, AP HP, Ctr Reference Malad Neuromusculaire & SLA, Marseille, Provence Alpes, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceAttarian, Shahram论文数: 0 引用数: 0 h-index: 0机构: CHU Marseille, Hop Timone, AP HP, Ctr Reference Malad Neuromusculaire & SLA, Marseille, Provence Alpes, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceVerschueren, Annie论文数: 0 引用数: 0 h-index: 0机构: CHU Marseille, Hop Timone, AP HP, Ctr Reference Malad Neuromusculaire & SLA, Marseille, Provence Alpes, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceSeilhean, Danielle论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Hop La Pitie Salpetriere, AP HP, Dept Neuropathol, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, FranceMillecamps, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau,Paris Brain Inst ICM,Inserm,CNRS, Paris, Ile De France, France
- [2] Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndromeMOLECULAR BIOLOGY REPORTS, 2024, 51 (01)Dogan, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, Turkiye Sakura State Hosp, Basaksehir Mahallesi G 434 Caddesi 2L, Istanbul, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, Turkiye论文数: 引用数: h-index:机构:Eroz, Recep论文数: 0 引用数: 0 h-index: 0机构: Aksaray Univ, Fac Med, Dept Med Genet, Aksaray, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeKilic, Hueseyin论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Fac Med, Dept Pediat Neurol, Istanbul, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeGezdirici, Alper论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, Turkiye Sakura State Hosp, Basaksehir Mahallesi G 434 Caddesi 2L, Istanbul, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, TurkiyeGonullu, Burcin论文数: 0 引用数: 0 h-index: 0机构: Batman Res & Training Hosp, Dept Pediat Neurol, Batman, Turkiye Univ Hlth Sci Basaksehir Cam, Dept Med Genet, Basaksehir Mahallesi G 434 Caddesi 2, Istanbul, Turkiye
- [3] Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activityBRAIN, 2022, 145 (03) : 872 - 878Ezer, Shlomit论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, IL-9112001 Jerusalem, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelDaana, Muhannad论文数: 0 引用数: 0 h-index: 0机构: Clalit Hlth Care Serv, Child Dev Ctr, Jerusalem Dist, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelPark, Julien H.论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, Dept Clin Sci, Neurosci, S-90187 Umea, Sweden Univ Munster, Dept Gen Pediat, D-48149 Munster, Germany Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelYanovsky-Dagan, Shira论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelNordstrom, Ulrika论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, Dept Clin Sci, Neurosci, S-90187 Umea, Sweden Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelBasal, Adily论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelEdvardson, Simon论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, IL-9112001 Jerusalem, Israel Hadassah Med Org, Pediat Neurol Unit, IL-9112001 Jerusalem, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelSaada, Ann论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, IL-9112001 Jerusalem, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelOtto, Markus论文数: 0 引用数: 0 h-index: 0机构: Univ Clin, Dept Neurol, D-89081 Ulm, Germany Univ Clin, Dept Neurol, D-06120 Halle, Saale, Germany Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelMeiner, Vardiella论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, IL-9112001 Jerusalem, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelMarklund, Stefan L.论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, Dept Med Biosci, Clin Chem, S-90736 Umea, Sweden Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelAndersen, Peter Munch论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, Dept Clin Sci, Neurosci, S-90187 Umea, Sweden Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, IsraelHarel, Tamar论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, IL-9112001 Jerusalem, Israel Hadassah Med Org, Dept Genet, IL-9112001 Jerusalem, Israel
- [4] Body mass index is lower in presymptomatic C9orf72 pathogenic variant carriers compared to presymptomatic SOD1 pathogenic variant carriers and gene-negative controlsMUSCLE & NERVE, 2023, 68 : S78 - S78Lee, Ikjae论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, New York, NY USA Columbia Univ, Irving Med Ctr, New York, NY USAGarret, Mark论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA USA Columbia Univ, Irving Med Ctr, New York, NY USAWu, Joanne论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Columbia Univ, Irving Med Ctr, New York, NY USAHarrington, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, New York, NY USA Columbia Univ, Irving Med Ctr, New York, NY USABerry, James论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, New York, NY USA论文数: 引用数: h-index:机构:Harms, Matthew论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, New York, NY USA Columbia Univ, Irving Med Ctr, New York, NY USABenatar, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Columbia Univ, Irving Med Ctr, New York, NY USAShneider, Neil论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Irving Med Ctr, New York, NY USA Columbia Univ, Irving Med Ctr, New York, NY USA
- [5] Destabilization of ALS-variant SOD1 via metal transfer to wild-type SOD1ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, 2019, 258Zahler, Collin论文数: 0 引用数: 0 h-index: 0机构: Baylor Univ, Chem & Biochem, Waco, TX 76798 USA Baylor Univ, Chem & Biochem, Waco, TX 76798 USABaumer, Katelyn论文数: 0 引用数: 0 h-index: 0机构: Baylor Univ, Chem & Biochem, Waco, TX 76798 USA Baylor Univ, Chem & Biochem, Waco, TX 76798 USAShaw, Bryan论文数: 0 引用数: 0 h-index: 0机构: Baylor Univ, Chem & Biochem, Waco, TX 76798 USA Baylor Univ, Chem & Biochem, Waco, TX 76798 USA
- [6] SOD1 GeneGENETICS RESEARCH INTERNATIONAL, 2016, 2016Nithya, K.论文数: 0 引用数: 0 h-index: 0机构: Lady Doak Coll, PG & Res Dept Zool & Biotechnol, Madurai 625002, Tamil Nadu, India Lady Doak Coll, PG & Res Dept Zool & Biotechnol, Madurai 625002, Tamil Nadu, IndiaAngeline, T.论文数: 0 引用数: 0 h-index: 0机构: Lady Doak Coll, PG & Res Dept Zool & Biotechnol, Madurai 625002, Tamil Nadu, India Lady Doak Coll, PG & Res Dept Zool & Biotechnol, Madurai 625002, Tamil Nadu, IndiaIsabel, W.论文数: 0 引用数: 0 h-index: 0机构: Lady Doak Coll, PG & Res Dept Zool & Biotechnol, Madurai 625002, Tamil Nadu, India Lady Doak Coll, PG & Res Dept Zool & Biotechnol, Madurai 625002, Tamil Nadu, IndiaAsirvatham, A. J.论文数: 0 引用数: 0 h-index: 0机构: Arthur Asirvatham Hosp, Madurai 625020, Tamil Nadu, India Lady Doak Coll, PG & Res Dept Zool & Biotechnol, Madurai 625002, Tamil Nadu, India
- [7] Structural and Biophysical Properties of the Pathogenic SOD1 Variant H46R/H48QBIOCHEMISTRY, 2009, 48 (15) : 3436 - 3447Winkler, Duane D.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Xray Crystallog Core Lab, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USASchuermann, Jonathan P.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Xray Crystallog Core Lab, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USACao, Xiaohang论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Xray Crystallog Core Lab, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USAHolloway, Stephen P.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Xray Crystallog Core Lab, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USABorchelt, David R.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USACarroll, Mark C.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Environm Hlth Sci, Bloomberg Sch Publ Hlth, Baltimore, MD 21218 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USAProescher, Jody B.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Environm Hlth Sci, Bloomberg Sch Publ Hlth, Baltimore, MD 21218 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USACulotta, Valeria C.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Environm Hlth Sci, Bloomberg Sch Publ Hlth, Baltimore, MD 21218 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USAHart, P. John论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Xray Crystallog Core Lab, San Antonio, TX 78229 USA S Texas Vet Hlth Care Syst, Dept Vet Affairs, Audie Murphy Div, Geriatr Res Educ & Clin Ctr, San Antonio, TX 78229 USA Univ Texas Hlth Sci Ctr San Antonio, Dept Biochem, San Antonio, TX 78229 USA
- [8] Pathogenic R163W Variant of the Copper Chaperone for Sod1 (Ccs) Functions as an Anti-chaperoneBIOCHEMISTRY, 2024, 63 (16) : 2051 - 2062Zhang, Bei论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USA Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USABoyd, Stefanie D.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USA Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USAZhabilov, Dannie论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USA Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USAUllrich, Morgan论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USA Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USABlackburn, Ninian J.论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Chem Physiol & Biochem, Portland, OR 97239 USA Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USAWinkler, Duane D.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USA Univ Texas Dallas, Dept Biol Sci, Richardson, TX 75083 USA
- [9] A Case of Rapidly Progressive Juvenile-Onset Amyotrophic Lateral Sclerosis with a rare SOD1 genetic variantNEUROLOGY, 2019, 92 (15)De La Torre, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USAShah, Shailee论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Mcgaw Med Ctr, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USARao, Vamshi论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA
- [10] A rare homozygous IGFALS gene pathogenic variant: a case reportHORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 2): : 170 - 170Della Pia, Belen论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, Argentina Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, ArgentinaColombres, Maria Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, Argentina Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, ArgentinaInsua, Claudia论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Ninos Pedro Elizalde, Buenos Aires, Argentina Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, ArgentinaScaglia, Paula Alejandra论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Div Endocrinol, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI, Buenos Aires, Argentina Hosp Ninos Dr Ricardo Gutierrez, Unidad Traslac, Buenos Aires, Argentina Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, ArgentinaAzcoiti, Maria Esnaola论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Dr Ricardo Gutierrez, Div Endocrinol, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI, Buenos Aires, Argentina Hosp Ninos Dr Ricardo Gutierrez, Unidad Traslac, Buenos Aires, Argentina Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, ArgentinaBrunetto, Oscar论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, Argentina Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, ArgentinaHernandez, Claudia论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, Argentina Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, Argentina