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- [1] Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions[J]. FRONTIERS IN NEUROLOGY, 2021, 12Ademuwagun, Ibitayo Abigail论文数: 0 引用数: 0 h-index: 0机构: Covenant Univ, Covenant Univ Bioinformat Res, Ota, Nigeria Covenant Univ, Dept Biochem, Ota, Nigeria Covenant Univ, Covenant Univ Bioinformat Res, Ota, NigeriaRotimi, Solomon Oladapo论文数: 0 引用数: 0 h-index: 0机构: Covenant Univ, Covenant Univ Bioinformat Res, Ota, Nigeria Covenant Univ, Dept Biochem, Ota, Nigeria Covenant Univ, Covenant Univ Bioinformat Res, Ota, NigeriaSyrbe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Clin Pediat & Adolescent Med, Heidelberg, Germany Covenant Univ, Covenant Univ Bioinformat Res, Ota, NigeriaAjamma, Yvonne Ukamaka论文数: 0 引用数: 0 h-index: 0机构: Covenant Univ, Covenant Univ Bioinformat Res, Ota, Nigeria Covenant Univ, Covenant Univ Bioinformat Res, Ota, NigeriaAdebiyi, Ezekiel论文数: 0 引用数: 0 h-index: 0机构: Covenant Univ, Covenant Univ Bioinformat Res, Ota, Nigeria Covenant Univ, Dept Comp & Informat Sci, Ota, Nigeria German Canc Res Ctr, Div Appl Bioinformat, Heidelberg, Germany Covenant Univ, Covenant Univ Bioinformat Res, Ota, Nigeria
- [2] Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome[J]. PLOS ONE, 2013, 8 (10):Auerbach, David S.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAJones, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAClawson, Brittany C.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAOfford, James论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USALenk, Guy M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAOgiwara, Ikuo论文数: 0 引用数: 0 h-index: 0机构: Riken Brain Sci Inst, Neurogenet Lab, Wako, Saitama, Japan Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAYamakawa, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Riken Brain Sci Inst, Neurogenet Lab, Wako, Saitama, Japan Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAMeisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAParent, Jack M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Vet Affairs Ann Arbor Healthcare Syst, Ann Arbor, MI USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USAIsom, Lori L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USA Univ Michigan, Ann Arbor, MI 48109 USA Univ Michigan, Dept Pharmacol, Ann Arbor, MI 48109 USA
- [3] Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes[J]. EPILEPSIA, 2019, 60 : S77 - S85论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [4] The structure and function of cardiac t-tubules in health and disease[J]. PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 2011, 278 (1719) : 2714 - 2723Ibrahim, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Harefield Heart Sci Ctr, Harefield UB9 6JH, Middx, England Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Harefield Heart Sci Ctr, Harefield UB9 6JH, Middx, EnglandGorelik, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Harefield Heart Sci Ctr, Harefield UB9 6JH, Middx, EnglandYacoub, Magdi H.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Harefield Heart Sci Ctr, Harefield UB9 6JH, Middx, England Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Harefield Heart Sci Ctr, Harefield UB9 6JH, Middx, EnglandTerracciano, Cesare M.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Harefield Heart Sci Ctr, Harefield UB9 6JH, Middx, England Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Harefield Heart Sci Ctr, Harefield UB9 6JH, Middx, England
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- [6] Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome[J]. ANNALS OF NEUROLOGY, 2020, 87 (03) : 339 - 346Lenk, Guy M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAJafar-Nejad, Paymaan论文数: 0 引用数: 0 h-index: 0机构: Ionis Pharmaceut, Carlsbad, CA USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAHill, Sophie F.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Neurosci Program, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAHuffman, Lucas D.论文数: 0 引用数: 0 h-index: 0机构: Neurosci Program, Ann Arbor, MI USA Dept Cell & Dev Biol, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USASmolen, Corrine E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAWagnon, Jacy L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAPetit, Hayley论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAYu, Wenxi论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAZiobro, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USABhatia, Kritika论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAParent, Jack论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAGiger, Roman J.论文数: 0 引用数: 0 h-index: 0机构: Neurosci Program, Ann Arbor, MI USA Dept Cell & Dev Biol, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USARigo, Frank论文数: 0 引用数: 0 h-index: 0机构: Ionis Pharmaceut, Carlsbad, CA USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USAMeisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Neurosci Program, Ann Arbor, MI USA Univ Michigan, Dept Neurol, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
- [7] Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain[J]. GENOME MEDICINE, 2021, 13 (01)Liang, Lindsay论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USADarbandi, Siavash Fazel论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USAPochareddy, Sirisha论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Neurosci, New Haven, CT 06510 USA Yale Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USAGulden, Forrest O.论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Neurosci, New Haven, CT 06510 USA Yale Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USAGilson, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USASheppard, Brooke K.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USASahagun, Atehsa论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USAAn, Joon-Yong论文数: 0 引用数: 0 h-index: 0机构: Korea Univ, Coll Hlth Sci, Sch Biosyst & Biomed Sci, Seoul 02841, South Korea Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USAWerling, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Wisconsin, Lab Genet, Madison, WI 53706 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USARubenstein, John L. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USASestan, Nenad论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Neurosci, New Haven, CT 06510 USA Yale Sch Med, Kavli Inst Neurosci, New Haven, CT 06510 USA Yale Sch Med, Program Cellular Neurosci Neurodegenerat & Repair, New Haven, CT 06510 USA Yale Sch Med, Yale Child Study Ctr, New Haven, CT 06510 USA Yale Univ, Dept Psychiat, Sch Med, New Haven, CT 06520 USA Yale Univ, Dept Genet, Sch Med, New Haven, CT 06520 USA Yale Sch Med, Dept Comparat Med, Program Integrat Cell Signaling & Neurobiol Metab, New Haven, CT 06510 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USABender, Kevin J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USASanders, Stephan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94158 USA Univ Calif San Francisco, Bakar Computat Hlth Sci Inst, San Francisco, CA 94158 USA Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA 94158 USA
- [8] Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review[J]. FRONTIERS IN PHARMACOLOGY, 2020, 11Menezes, Luis Felipe Santos论文数: 0 引用数: 0 h-index: 0机构: Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, Brazil Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, BrazilSabia Junior, Elias Ferreira论文数: 0 引用数: 0 h-index: 0机构: Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, Brazil Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, BrazilTibery, Diogo Vieira论文数: 0 引用数: 0 h-index: 0机构: Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, Brazil Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, BrazilCarneiro, Lilian dos Anjos论文数: 0 引用数: 0 h-index: 0机构: Ctr Univ Euro Amer, Fac Med, Brasilia, DF, Brazil Ctr Univ Planalto Cent, Fac Med, Brasilia, DF, Brazil Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, BrazilSchwartz, Elisabeth Ferroni论文数: 0 引用数: 0 h-index: 0机构: Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, Brazil Univ Brasilia, Dept Ciencias Fisiol, Lab Neurofarmacol, Brasilia, DF, Brazil
- [9] Mortality in Dravet syndrome: A review[J]. EPILEPSY & BEHAVIOR, 2016, 64 : 69 - 74Shmuely, Sharon论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, Netherlands Stichting Epilepsie Instellingen Nederland SEIN, Zwolle, Netherlands UCL Inst Neurol, NIHR Univ Coll London Hosp Biomed Res Ctr, Queen Sq, London WC1N 3BG, England Epilepsy Soc, Gerrards Cross SL9 0RJ, Bucks, England Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, NetherlandsSisodiya, Sanjay M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, NIHR Univ Coll London Hosp Biomed Res Ctr, Queen Sq, London WC1N 3BG, England Epilepsy Soc, Gerrards Cross SL9 0RJ, Bucks, England Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, NetherlandsGunning, W. Boudewijn论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, Netherlands Stichting Epilepsie Instellingen Nederland SEIN, Zwolle, Netherlands Univ Med Ctr Utrecht, Ctr Mol Med, Dept Genet, Utrecht, Netherlands Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, NetherlandsSander, Josemir W.论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, Netherlands Stichting Epilepsie Instellingen Nederland SEIN, Zwolle, Netherlands UCL Inst Neurol, NIHR Univ Coll London Hosp Biomed Res Ctr, Queen Sq, London WC1N 3BG, England Epilepsy Soc, Gerrards Cross SL9 0RJ, Bucks, England Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, NetherlandsThijs, Roland D.论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, Netherlands Stichting Epilepsie Instellingen Nederland SEIN, Zwolle, Netherlands UCL Inst Neurol, NIHR Univ Coll London Hosp Biomed Res Ctr, Queen Sq, London WC1N 3BG, England Epilepsy Soc, Gerrards Cross SL9 0RJ, Bucks, England LUMC Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Stichting Epilepsie Instellingen Nederland SEIN, Heemstede, Netherlands
- [10] NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome[J]. PLOS ONE, 2020, 15 (03):Weuring, Wout J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsSingh, Sakshi论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsVolkers, Linda论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leiden, Dept Cardiol, Lab Expt Cardiol, Leiden, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsRook, Martin B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Physiol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlandsvan't Slot, Ruben H.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsBosma, Marjolein论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsInserra, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Ctr Pain Res, Brisbane, Qld, Australia Univ Queensland, Sch Pharm, Brisbane, Qld, Australia Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsVetter, Irina论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Ctr Pain Res, Brisbane, Qld, Australia Univ Queensland, Sch Pharm, Brisbane, Qld, Australia Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsVerhoeven-Duif, Nanda M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsBraun, Kees P. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Neurol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsRivara, Mirko论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Food & Drug Dept, Parma, Italy Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, NetherlandsKoeleman, Bobby P. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Genet,Ctr Mol Med, Utrecht, Netherlands