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- [21] In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature reviewNEUROGENETICS, 2022, 23 (01) : 67 - 68Sterbova, K.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech RepublicVlckova, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech RepublicHansikova, H.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Paediat & Inherited Metab Disorders, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech RepublicSebronova, V.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech Republic论文数: 引用数: h-index:机构:Pavlicek, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 1, Dept Paediat & Inherited Metab Disorders, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Anaesthesiol & Resuscitat, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Paediat Neurol, Prague, Czech Republic论文数: 引用数: h-index:机构:
- [22] A specific de novo ACTB variant is a novel cause of syndromic neonatal diabetesDIABETOLOGIA, 2024, 67 : S119 - S120论文数: 引用数: h-index:机构:Lewis, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, England Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, England论文数: 引用数: h-index:机构:Wakeling, M. N.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, England Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, EnglandHattersley, A. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Exeter, Devon, England Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, EnglandPatel, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, England Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, EnglandFlanagan, S. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Exeter, Devon, England Univ Exeter, Dept Clin & Biomed Sci, Exeter, Devon, England论文数: 引用数: h-index:机构:
- [23] Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseasesHUMAN MOLECULAR GENETICS, 2024, 33 (18) : 1630 - 1641Figuccia, Sonia论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, Italy Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, ItalyIzzo, Rossella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Via Temolo 4, I-20126 Milan, Italy Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, ItalyLegati, Andrea论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Via Temolo 4, I-20126 Milan, Italy Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, ItalyNasca, Alessia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Via Temolo 4, I-20126 Milan, Italy Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, Italy论文数: 引用数: h-index:机构:Ghezzi, Daniele论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Via Temolo 4, I-20126 Milan, Italy Univ Milan, Dept Pathophysiol & Transplantat, Via F Sforza 35, I-20122 Milan, Italy Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, ItalyBerti, Camilla Ceccatelli论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, Italy Univ Parma, Dept Chem Life Sci & Environm Sustainabil, Parco Area Sci 11-A, I-43124 Parma, Italy
- [24] Biallelic POC1A variants cause syndromic severe insulin resistance with muscle crampsEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2022, 186 (05) : 543 - 552Mericq, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, Chile Clin Las Condes, Dept Pediat, Santiago, Chile Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileHuang-Doran, Isabel论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Metab Res Labs, Cambridge, England Addenbrookes Hosp, Wellcome Trust MRC Inst Metab Sci, NIHR Cambridge Biomed Res Ctr, Cambridge, England Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileAl-Naqeb, Dhekra论文数: 0 引用数: 0 h-index: 0机构: Sultan Bin Abdulaziz Humanitarian City, Dept Med, Med Genet Clin, Riyadh, Saudi Arabia Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileBasaure, Javiera论文数: 0 引用数: 0 h-index: 0机构: Complejo Asistencial Dr Sotero del Rio, Santiago, Chile Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileCastiglioni, Claudia论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Pediat Neurol, Santiago, Chile Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, Chilede Bruin, Christiaan论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Willem Alexander Childrens Hosp, Dept Paediat, Div Paediat Endocrinol,Med Ctr, Leiden, Netherlands Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileHendriks, Yvonne论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Genet & Rare Dis Res Div, Unit Neuromuscular & Neurodegenerat Disorders, IRCCS, Rome, Italy Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh, Saudi Arabia Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, Chile论文数: 引用数: h-index:机构:Al-Rubeaan, Khalid论文数: 0 引用数: 0 h-index: 0机构: Sultan Bin Abdulaziz Humanitarian City, Res & Sci Ctr, Riyadh, Saudi Arabia Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileSemple, Robert K.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Ctr Cardiovasc Sci, Edinburgh, Midlothian, Scotland Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, ChileWit, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Willem Alexander Childrens Hosp, Dept Paediat, Div Paediat Endocrinol,Med Ctr, Leiden, Netherlands Univ Chile, Fac Med, Inst Maternal & Child Res, Santiago, Chile
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Cellular Biol, Irvine, CA 92717 USAHuang, Vincent H.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAQaiser, Tanveer A.论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAPotluri, Prasanth论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Ctr Mitochondrial & Epigen Med, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAMahl, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Pediat Otolaryngol Head & Neck Surg, Cincinnati, OH 45229 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USADavila, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Smilow Ctr Translat Res, Philadelphia, PA 19104 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USANazli, Sabiha论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAHancock, Saege论文数: 0 引用数: 0 h-index: 0机构: Trovagene, San Diego, CA USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAYu, Margret论文数: 0 引用数: 0 h-index: 0机构: Marshall B Ketchum Univ, Fullerton, CA USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAGargus, Jay论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Physiol & Biophys, Irvine, CA 92717 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAChang, Richard论文数: 0 引用数: 0 h-index: 0机构: CHOC Childrens, Div Metab, Orange, CA USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAAl-sheqaih, Nada论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Ctr Genom Med, Manchester, Lancs, England Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr MAHSC, Manchester, Lancs, England Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USANewman, William G.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Ctr Genom Med, Manchester, Lancs, England Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr MAHSC, Manchester, Lancs, England Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAAbdenur, Jose论文数: 0 引用数: 0 h-index: 0机构: CHOC Childrens, Div Metab, Orange, CA USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAStarr, Arnold论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Neurol & Neurobiol, Irvine, CA 92717 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAHegde, Rashmi论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Dev Biol, Cincinnati, OH 45229 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USADorn, Thomas论文数: 0 引用数: 0 h-index: 0机构: Swiss Epilepsy Ctr, Zurich, Switzerland Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USABusch, Anke论文数: 0 引用数: 0 h-index: 0机构: Inst Mol Biol, Mainz, Germany Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAPark, Eddie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAWu, Jie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Inst Genom & Bioinformat, Irvine, CA 92717 USA Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USASchwenzer, Hagen论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Architecture & Reactivite ARN, CNRS, IBMC, Strasbourg, France Univ Calif Irvine, Sch Biol Sci, Dept Dev & Cellular Biol, Irvine, CA 92717 USAFlierl, Adrian论文数: 0 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