학술논문
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'학술논문'
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1~20
Academic Journal
Vande, Vyvere T; De, La Rosa E; Wilms, G; Nieboer, D; Steyerberg, E; Maas, AIR; Verheyden, J; van, den Hauwe L; Parizel, PM
JOURNAL OF NEUROTRAUMA. 37(11):1269-1282
Report
Rare Diseases Clinical Research Network; National Center for Advancing Translational Sciences (NCATS); National Institute of Neurological Disorders and Stroke (NINDS); National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); Lysosomal Disease Network
Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G )
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantileG (M2) gangliosidosis. Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24.
Nalini A, Christopher R. Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients. J Child Neurol. 2004 Jun;19(6):447-52. doi: 10.1177/088307380401900610.
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov;118(5):e1550-62. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2.
Maegawa GH, van Giersbergen PL, Yang S, Banwell B, Morgan CP, Dingemanse J, Tifft CJ, Clarke JT. Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis. Mol Genet Metab. 2009 Aug;97(4):284-91. doi: 10.1016/j.ymgme.2009.04.013. Epub 2009 May 3.
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.
Belmatoug N, Burlina A, Giraldo P, Hendriksz CJ, Kuter DJ, Mengel E, Pastores GM. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis. 2011 Oct;34(5):991-1001. doi: 10.1007/s10545-011-9368-7. Epub 2011 Jul 21.
Kossoff EH, Zupec-Kania BA, Amark PE, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Helen Cross J, Dahlin MG, Donner EJ, Klepper J, Jehle RS, Kim HD, Christiana Liu YM, Nation J, Nordli DR Jr, Pfeifer HH, Rho JM, Stafstrom CE, Thiele EA, Turner Z, Wirrell EC, Wheless JW, Veggiotti P, Vining EP; Charlie Foundation, Practice Committee of the Child Neurology Society; Practice Committee of the Child Neurology Society; International Ketogenic Diet Study Group. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia. 2009 Feb;50(2):304-17. doi: 10.1111/j.1528-1167.2008.01765.x. Epub 2008 Sep 23.
Zaroff CM, Neudorfer O, Morrison C, Pastores GM, Rubin H, Kolodny EH. Neuropsychological assessment of patients with late onset GM2 gangliosidosis. Neurology. 2004 Jun 22;62(12):2283-6. doi: 10.1212/01.wnl.0000130498.19019.02.
Bembi B, Marchetti F, Guerci VI, CianaG , Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG. Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology. 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de.
Zupec-Kania BA, Spellman E. An overview of the ketogenic diet for pediatric epilepsy. Nutr Clin Pract. 2008 Dec-2009 Jan;23(6):589-96. doi: 10.1177/0884533608326138.
Denny CA, Heinecke KA, Kim YP, Baek RC, Loh KS, Butters TD, Bronson RT, Platt FM, Seyfried TN. Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice. J Neurochem. 2010 Jun;113(6):1525-35. doi: 10.1111/j.1471-4159.2010.06733.x. Epub 2010 Apr 3.
Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB. Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. Mol Genet Metab. 2015 Feb;114(2):274-80. doi: 10.1016/j.ymgme.2014.11.015. Epub 2014 Dec 6.
Karimzadeh P, Naderi S, Modarresi F, Dastsooz H, Nemati H, Farokhashtiani T, Shamsian BS, Inaloo S, Faghihi MA. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. BMC Med Genet. 2017 Jul 17;18(1):73. doi: 10.1186/s12881-017-0417-4.
Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M. The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3.
Brackmann F, Kehrer C, Kustermann W, Bohringer J, Krageloh-Mann I, Trollmann R. Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency. Neuropediatrics. 2017 Apr;48(2):127-130. doi: 10.1055/s-0037-1598646. Epub 2017 Feb 13.
Regier DS, Proia RL, D'Azzo A, Tifft CJ. The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1(Suppl 1):663-73.
Nestrasil I, Ahmed A, Utz JM, Rudser K, Whitley CB, Jarnes-Utz JR. Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. Mol Genet Metab. 2018 Feb;123(2):97-104. doi: 10.1016/j.ymgme.2017.12.432. Epub 2017 Dec 20.
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile
Nalini A, Christopher R. Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients. J Child Neurol. 2004 Jun;19(6):447-52. doi: 10.1177/088307380401900610.
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov;118(5):e1550-62. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2.
Maegawa GH, van Giersbergen PL, Yang S, Banwell B, Morgan CP, Dingemanse J, Tifft CJ, Clarke JT. Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis. Mol Genet Metab. 2009 Aug;97(4):284-91. doi: 10.1016/j.ymgme.2009.04.013. Epub 2009 May 3.
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.
Belmatoug N, Burlina A, Giraldo P, Hendriksz CJ, Kuter DJ, Mengel E, Pastores GM. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis. 2011 Oct;34(5):991-1001. doi: 10.1007/s10545-011-9368-7. Epub 2011 Jul 21.
Kossoff EH, Zupec-Kania BA, Amark PE, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Helen Cross J, Dahlin MG, Donner EJ, Klepper J, Jehle RS, Kim HD, Christiana Liu YM, Nation J, Nordli DR Jr, Pfeifer HH, Rho JM, Stafstrom CE, Thiele EA, Turner Z, Wirrell EC, Wheless JW, Veggiotti P, Vining EP; Charlie Foundation, Practice Committee of the Child Neurology Society; Practice Committee of the Child Neurology Society; International Ketogenic Diet Study Group. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia. 2009 Feb;50(2):304-17. doi: 10.1111/j.1528-1167.2008.01765.x. Epub 2008 Sep 23.
Zaroff CM, Neudorfer O, Morrison C, Pastores GM, Rubin H, Kolodny EH. Neuropsychological assessment of patients with late onset GM2 gangliosidosis. Neurology. 2004 Jun 22;62(12):2283-6. doi: 10.1212/01.wnl.0000130498.19019.02.
Bembi B, Marchetti F, Guerci VI, Ciana
Zupec-Kania BA, Spellman E. An overview of the ketogenic diet for pediatric epilepsy. Nutr Clin Pract. 2008 Dec-2009 Jan;23(6):589-96. doi: 10.1177/0884533608326138.
Denny CA, Heinecke KA, Kim YP, Baek RC, Loh KS, Butters TD, Bronson RT, Platt FM, Seyfried TN. Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice. J Neurochem. 2010 Jun;113(6):1525-35. doi: 10.1111/j.1471-4159.2010.06733.x. Epub 2010 Apr 3.
Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB. Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. Mol Genet Metab. 2015 Feb;114(2):274-80. doi: 10.1016/j.ymgme.2014.11.015. Epub 2014 Dec 6.
Karimzadeh P, Naderi S, Modarresi F, Dastsooz H, Nemati H, Farokhashtiani T, Shamsian BS, Inaloo S, Faghihi MA. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. BMC Med Genet. 2017 Jul 17;18(1):73. doi: 10.1186/s12881-017-0417-4.
Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M. The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3.
Brackmann F, Kehrer C, Kustermann W, Bohringer J, Krageloh-Mann I, Trollmann R. Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency. Neuropediatrics. 2017 Apr;48(2):127-130. doi: 10.1055/s-0037-1598646. Epub 2017 Feb 13.
Regier DS, Proia RL, D'Azzo A, Tifft CJ. The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1(Suppl 1):663-73.
Nestrasil I, Ahmed A, Utz JM, Rudser K, Whitley CB, Jarnes-Utz JR. Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. Mol Genet Metab. 2018 Feb;123(2):97-104. doi: 10.1016/j.ymgme.2017.12.432. Epub 2017 Dec 20.
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.
Academic Journal
Luciano, Mark G.; Batzdorf, Ulrich; Kula, Roger W.; Rocque, Brandon G.; Maher, Cormac O.; Heiss, John; Martin, Bryn A.; Bolognese, Paolo A.; Ashley-Koch, Allison; Limbrick, David; Poppe, Dorothy J.; Esposito, Kaitlyn M.; Odenkirchen, Joanne; Esterlitz, Joy R.; Alai, Sherita; Joseph, Kristen; Feldman, Robin S.; Riddle, Robert
Neurosurgery. December, 2019, Vol. 85 Issue 6, p854, 7 p.
Report
Brigham and Women's Hospital; National Human Genome Research Institute (NHGRI); National Institute of Neurological Disorders and Stroke (NINDS); National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); NIH (NIAMS and NIND) as part of NeuroNext
A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy
Quintana M, Shrader J, Slota C, JoeG , McKew JC, Fitzgerald M, Gahl WA, Berry S, Carrillo N. Bayesian model of disease progression in GNE myopathy. Stat Med. 2019 Apr 15;38(8):1459-1474. doi: 10.1002/sim.8050. Epub 2018 Dec 3.
Carrillo N, Malicdan MC, Huizing M. GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. Neurotherapeutics. 2018 Oct;15(4):900-914. doi: 10.1007/s13311-018-0671-y.
Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26.
Quintana M, Shrader J, Slota C, Joe
Carrillo N, Malicdan MC, Huizing M. GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. Neurotherapeutics. 2018 Oct;15(4):900-914. doi: 10.1007/s13311-018-0671-y.
Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26.
Report
University of Washington; William Marsh Rice University; Massachusetts General Hospital; National Institute of Neurological Disorders and Stroke (NINDS)
Building Mood State Classifiers to Inform Deep Brain Stimulation of Treatment-Resistant Bipolar Depression
Report
University of Pittsburgh; Brown University; Carnegie Mellon University; National Institute of Neurological Disorders and Stroke (NINDS); Medtronic
Development of Adaptive Deep Brain Stimulation (aDBS) for the Treatment of Intractable Obsessive-Compulsive Disorder (OCD) Phase II Using Summit RC+S System With ECoG Paddles
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Diastolic Closing Margin Predicts Brain Injury in Premature Infants
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University of Pittsburgh; Brown University; Carnegie Mellon University; National Institute of Neurological Disorders and Stroke (NINDS); Medtronic
Development of Adaptive Deep Brain Stimulation (aDBS) for the Treatment of Intractable OCD: Phase Ib Using Summit RC+S
Powell MP, Anso J, Gilron R, Provenza NR, Allawala AB, Sliva DD, Bijanki KR, Oswalt D, Adkinson J, Pouratian N, Sheth SA, Goodman WK, Jones SR, Starr PA, Borton DA. NeuroDAC: an open-source arbitrary biosignal waveform generator. J Neural Eng. 2021 Feb 5;18(1):10.1088/1741-2552/abc7f0. doi: 10.1088/1741-2552/abc7f0.
Powell MP, Anso J, Gilron R, Provenza NR, Allawala AB, Sliva DD, Bijanki KR, Oswalt D, Adkinson J, Pouratian N, Sheth SA, Goodman WK, Jones SR, Starr PA, Borton DA. NeuroDAC: an open-source arbitrary biosignal waveform generator. J Neural Eng. 2021 Feb 5;18(1):10.1088/1741-2552/abc7f0. doi: 10.1088/1741-2552/abc7f0.
Report
University of Pittsburgh; Brown University; Carnegie Mellon University; National Institute of Neurological Disorders and Stroke (NINDS); Medtronic
Development of Adaptive Deep Brain Stimulation (aDBS) for the Treatment of Intractable OCD: Phase Ia Using Activa PC+S
Academic Journal
Journal of Neuroimmunology. June, 2005, Vol. 163 Issue 1-2, p179, 6 p.
Report
Boston Children's Hospital; National Institute of Neurological Disorders and Stroke (NINDS); NYU Langone Health; University of Colorado, Denver
A Wireless EEG Patch for Continuous Electrographic Monitoring
Academic Journal
检验医学与临床. 14(2):164-166
Academic Journal
McArdle, P. F.; Kittner, S. J.; Ay, H.; Brown Jr, R. D.; Meschia, J. F.; Rundek, T.; Wassertheil-Smoller, S.; Woo, D.; Andsberg, G.; Biffi, A.; Brenner, D.; Cole, J. W.; Corriveau, R.; de Bakker, P. I. W.; Delavaran, H.; Dichgans, M.; Grewal, R.; Gwinn, K.; Huq, M.; Jern, Christina, 1962; Jimenez Conde, J.; Jood, Katarina, 1966; Kaplan, R. C.; Katschnig, P.; Katsnelson, M.; Labovitz, D.; Lemmens, R.; Li, L.; Lindgren, A.; Markus, H. S.; Peddareddygari, L. R.; Pedersen, Annie, 1981; Pera, J.; Redfors, Petra; Roquer, J.; Rosand, J.; Rost, N. S.; Rothwell, P. M.; Sacco, R. L.; Sharma, P.; Slowik, A.; Sudlow, C.; Thijs, V.; Tiedt, S.; Valenti, R.; Worrall, B. B.
Neurology. 83(18):1653-60
Report
The Study of GM1 Ganglioside, A Potential New Parkinson's Disease Medication
Academic Journal
Gastrointestinal Endoscopy. 76(3):525-530
Academic Journal
Manley, Geoffrey T, Prof; Dams-O’Connor, Kristen, Prof; Alosco, Michael L, PhD; Awwad, Hibah O, PhD; Bazarian, Jeffery J, Prof; Bragge, Peter, Prof; Corrigan, John D, Prof; Doperalski, Adele, PhD; Ferguson, Adam R, Prof; Mac Donald, Christine L, Prof; Menon, David K, Prof; McNett, Molly M, Prof; van der Naalt, Joukje, Prof; Nelson, Lindsay D, Prof; Pisică, Dana, MD; Silverberg, Noah D, Prof; Umoh, Nsini, PhD; Wilson, Lindsay, Prof; Yuh, Esther L, Prof; Zetterberg, Henrik, Prof; Maas, Andrew I R, Prof; McCrea, Michael A, Prof; Adams, Rachel Syako; Albrecht, Jennifer S; Arciniegas, David B; Asken, Breton M; Barthelemy, Ernest J; Bayley, Mark; Bayuk, Thomas J; Bellgowan, Patrick; Bhattacharyay, Shubhayu; Booker, Tricia; Brody, David L; Buki, Andras; Cameron, Heather; Caron Epstein, Lindsay; Cesar, Todd; Cota, Scott A; Daugherty, Jill; Del Cecato, John; Dengler, Bradley A; Diaz-Arrastia, Ramon; Diggs, Alicia; Dobbins, Maureen; Duhaime, Ann-Christine; Edlow, Brian L; Ercole, Ari; Figaji, Anthony; Fontaine, Sarah N; Gao, Guoyi; Gardner, Raquel C; Gill, Jessica; Giza, Christopher C; Haarbauer-Krupa, Juliet; Hamilton, Scott; Hinds, Sidney; Jakeman, Lyn; Juengst, Shannon B; Koerte, Inga K; Korley, Frederick K; Koroshetz, Walter; Lazarus, Rachel; Lecky, Fiona; Lequerica, Anthony H; Li, Lucia M; Mannix, Rebekah; Maxfield Panker, Stephanie; Mayer, Andrew R; McKinney, Gary; Meier, Timothy B; Mikolic, Ana; Miller, ACate; Mondello, Stefania; Moritz, Kasey E; Mukherjee, Pratik; Nakase-Richardson, Risa; Newcombe, Virginia F J; Okonkwo, David O; Papa, Linda; Pappadis, Monique R; Peek-Asa, Corrine; Phillips, JB; Ponsford, Jennie; Posti, Jussi P; Puccio, Ava M; Roberston, Claudia S; Sapiurka, Maya; Simpson, Lindsay; Sloley, Stephanie; Steyerberg, Ewout; Sulzer, James; Taliaferro, Dwayne L; Tenovuo, Olli; Thomas, Danny G; Thomas, Charlene; Torres-Espin, Abel; Tsetsou, Spyridoula; Turgeon, Alexis F; Tuvesson, Nancy; Valera, Eve; Vande Vyvere, Thijs; Villalobos Dintrans, Claudio; Wang, Kevin K; Wienhoven, Melanie; Wilde, Elisabeth A; Wu, Yu-Chien; Yeates, Keith Owen; Yue, John K; Yurgelun-Todd, Deborah
The Lancet Neurology. 24(6):512-523
Academic Journal
Lees, Kennedy R, Prof; Bluhmki, Erich, PhD; von Kummer, Rüdiger, Prof; Brott, Thomas G, Prof; Toni, Danilo, Prof; Grotta, James C, Prof; Albers, Gregory W, Prof; Kaste, Markku, Prof; Marler, John R, MD; Hamilton, Scott A, PhD; Tilley, Barbara C, Prof; Davis, Stephen M, Prof; Donnan, Geoffrey A, Prof; Hacke, Werner, Prof
The Lancet. 375(9727):1695-1703
Report
Robotically Augmented Mental Practice for Neuromotor Facilitation
Academic Journal
Hoshina, Yoji; Abbatemarco, Justin R.; Rodenbeck, Stefanie J.; Poon, Jason T.; Liu, Suzanne C.; Soldan, M. Mateo Paz; Greenlee, John E.; Rose, John W.; Peterson, Lisa K.; Johnson, Lisa; Delic, Alen; Smith, Tammy L.; Clardy, Stacey L.
Annals of Clinical and Translational Neurology. November, 2024, Vol. 11 Issue 11, p2846, 9 p.
Conference
Salazar-Munoz, Yolocuauhtli; Garcia-Caballero, Blanca E.; Munoz-Rios, Refugio; Lopez-Perez, G. Angelina; Ruano-Calderon, Luis Angel
2016 13th International Conference on Power Electronics (CIEP) Power Electronics (CIEP), 2016 13th International Conference on. :192-197 Jun, 2016
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