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- [21] Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutationEPILEPTIC DISORDERS, 2020, 22 (01) : 103 - 109Tran, Linh论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USARichards, Jason论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Neurol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USAMcDonald, Marie论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USAMcConkie-Rosell, Allyn论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USAStong, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USAJasien, Joan论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USAShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USAMikati, Mohamad A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA
- [22] Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic MutationMOVEMENT DISORDERS CLINICAL PRACTICE, 2015, 2 (01): : 74 - 75论文数: 引用数: h-index:机构:Ozelius, Laurie J.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Genet, New York, NY USA Mt Sinai Sch Med, Dept Genom Sci, New York, NY USA Mt Sinai Sch Med, Dept Neurol, New York, NY USA Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, MalaysiaBrashear, Allison论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Univ, Sch Med, Dept Neurol, Winston Salem, NC 27109 USA Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, MalaysiaLang, Anthony E.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Ctr, Toronto, ON, Canada Univ Toronto, Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis Res, Toronto, ON, Canada Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, MalaysiaAhmad-Annuar, Azlina论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Mah Pooi Soo & Tan Chin Nam Ctr Parkinsons & Rela, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, MalaysiaTan, Chong Tin论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Mah Pooi Soo & Tan Chin Nam Ctr Parkinsons & Rela, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, MalaysiaLim, Shen-Yang论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Mah Pooi Soo & Tan Chin Nam Ctr Parkinsons & Rela, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur, Malaysia Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, Malaysia
- [23] A Woman with Flexion of the Left Hand and Foot and Difficulty Speaking Rapid-onset dystonia-parkinsonism due to a mutation in the ATP1A3 gene.NEW ENGLAND JOURNAL OF MEDICINE, 2010, 362 (23): : 2213 - 2219Tarsy, Daniel论文数: 0 引用数: 0 h-index: 0机构: Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USASweadner, Kathleen J.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Surg, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USASong, Phillip C.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Eye & Ear Infirm, Dept Otolaryngol, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Otol & Laryngol, Boston, MA 02115 USA Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA
- [24] Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global PopulationsNEUROLOGY-GENETICS, 2021, 7 (02)Hoshino, Kyoko论文数: 0 引用数: 0 h-index: 0机构: Segawa Mem Neurol Clin Children, Tokyo, Japan Segawa Mem Neurol Clin Children, Tokyo, JapanSweadner, Kathleen J.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02115 USA Segawa Mem Neurol Clin Children, Tokyo, Japan论文数: 引用数: h-index:机构:Saute, Jonas Alex论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre HCPA, Med Genet Div, Porto Alegre, RS, Brazil Hosp Clin Porto Alegre HCPA, Neurol Div, Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Fac Med, Grad Program Med Med Sci, Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Fac Med, Internal Med Dept, Porto Alegre, RS, Brazil Segawa Mem Neurol Clin Children, Tokyo, JapanFreitas, Joel论文数: 0 引用数: 0 h-index: 0机构: CHU Porto, Hosp Santo Antonio, Neurophysiol Div, Porto, Portugal Univ Porto, i3s Inst Invest & Inovacao Saude, Inst Biol Mol & Celular, UniGene, Porto, Portugal Segawa Mem Neurol Clin Children, Tokyo, JapanDamasio, Joana论文数: 0 引用数: 0 h-index: 0机构: CHU Porto, Hosp Santo Antonio, Neurophysiol Div, Porto, Portugal Univ Porto, i3s Inst Invest & Inovacao Saude, Inst Biol Mol & Celular, UniGene, Porto, Portugal Segawa Mem Neurol Clin Children, Tokyo, JapanDonis, Karina C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre HCPA, Med Genet Div, Porto Alegre, RS, Brazil Segawa Mem Neurol Clin Children, Tokyo, JapanKimura, Kazue论文数: 0 引用数: 0 h-index: 0机构: Segawa Mem Neurol Clin Children, Tokyo, Japan Segawa Mem Neurol Clin Children, Tokyo, JapanFukuda, Hideki论文数: 0 引用数: 0 h-index: 0机构: Segawa Mem Neurol Clin Children, Tokyo, Japan Segawa Mem Neurol Clin Children, Tokyo, JapanHayashi, Masaharu论文数: 0 引用数: 0 h-index: 0机构: Segawa Mem Neurol Clin Children, Tokyo, Japan Segawa Mem Neurol Clin Children, Tokyo, JapanHiguchi, Tetsuya论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Diagnost Radiol & Nucl Med, Maebashi, Gumma, Japan Segawa Mem Neurol Clin Children, Tokyo, JapanIkeda, Yoshio论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Neurol, Maebashi, Gumma, Japan Segawa Mem Neurol Clin Children, Tokyo, JapanOzelius, Laurie J.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA USA Segawa Mem Neurol Clin Children, Tokyo, Japan论文数: 引用数: h-index:机构:
- [25] Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3)MOVEMENT DISORDERS CLINICAL PRACTICE, 2016, 3 (06): : 618 - 620Sampson, Jacinda B.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USAMichaeli, Tamar H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Genet & Dev, Med Ctr, New York, NY USA Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USAWright, Brenton A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Med Ctr, Dept Neurol, St Louis, MO USA Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USAGoldman, James E.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol, Med Ctr, New York, NY USA Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USAVonsattel, Jean-Paul论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USAFahn, Stanley论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Neurol Inst, Med Ctr, New York, NY USA Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USA
- [26] Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblingsACTA NEUROPATHOLOGICA, 2014, 128 (01) : 81 - 98Oblak, Adrian L.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAHagen, Matthew C.论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Coll Med, Dept Pathol & Lab Med, Cincinnati, OH USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USASweadner, Kathleen J.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurosurg, Boston, MA USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAHaq, Ihtsham论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Baptist Hlth, Wake Forest Sch Med, Dept Neurol, Winston Salem, NC USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAWhitlow, Christopher T.论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Baptist Hlth, Dept Radiol Neuroradiol, Winston Salem, NC USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAMaldjian, Joseph A.论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Baptist Hlth, Dept Radiol Neuroradiol, Winston Salem, NC USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAEpperson, Francine论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USACook, Jared F.论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Baptist Hlth, Wake Forest Sch Med, Dept Neurol, Winston Salem, NC USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAStacy, Mark论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Dept Neurol, Duke Hlth, Durham, NC USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAMurrell, Jill R.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAOzelius, Laurie J.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci & Neurol, New York, NY 10029 USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USABrashear, Allison论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Baptist Hlth, Wake Forest Sch Med, Dept Neurol, Winston Salem, NC USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USAGhetti, Bernardino论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USA
- [27] Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblingsActa Neuropathologica, 2014, 128 : 81 - 98Adrian L. Oblak论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineMatthew C. Hagen论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineKathleen J. Sweadner论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineIhtsham Haq论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineChristopher T. Whitlow论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineJoseph A. Maldjian论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineFrancine Epperson论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineJared F. Cook论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineMark Stacy论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineJill R. Murrell论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineLaurie J. Ozelius论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineAllison Brashear论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory MedicineBernardino Ghetti论文数: 0 引用数: 0 h-index: 0机构: Indiana University School of Medicine,Department of Pathology and Laboratory Medicine
- [28] A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonismHUMAN MOLECULAR GENETICS, 2009, 18 (13) : 2370 - 2377Blanco-Arias, Patricia论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, Spain Univ Santiago de Compostela, Grp Med Xenom, Santiago De Compostela, Spain Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainEinholm, Anja P.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Danish Natl Res Fdn, Ctr Membrane Pumps Cells & Dis PUMPKIN, Dept Physiol & Biophys, DK-8000 Aarhus C, Denmark Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainMamsa, Hafsa论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Sch Med, Dept Neurol, Los Angeles, CA 90024 USA Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainConcheiro, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Grp Med Xenom, Santiago De Compostela, Spain Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainGutierrez-de-Teran, Hugo论文数: 0 引用数: 0 h-index: 0机构: Fdn Publ Galega Med Xenom SERGAS, Santiago De Compostela, Spain Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainRomero, Jesus论文数: 0 引用数: 0 h-index: 0机构: Complexo Hosp Univ Vigo, Serv Neurol, Vigo, Spain Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainToustrup-Jensen, Mads S.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Danish Natl Res Fdn, Ctr Membrane Pumps Cells & Dis PUMPKIN, Dept Physiol & Biophys, DK-8000 Aarhus C, Denmark Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainCarracedo, Angel论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, Spain Univ Santiago de Compostela, Grp Med Xenom, Santiago De Compostela, Spain Fdn Publ Galega Med Xenom SERGAS, Santiago De Compostela, Spain Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainJen, Joanna C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Sch Med, Dept Neurol, Los Angeles, CA 90024 USA Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainVilsen, Bente论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Danish Natl Res Fdn, Ctr Membrane Pumps Cells & Dis PUMPKIN, Dept Physiol & Biophys, DK-8000 Aarhus C, Denmark Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, SpainSobrido, Maria-Jesus论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, Spain Fdn Publ Galega Med Xenom SERGAS, Santiago De Compostela, Spain Inst Salud Carlos III, Ctr Invest Red Enfermedades Raras CIBERER, Madrid, Spain
- [29] A novel de novo mutation in ATP1A3 and childhood-onset schizophreniaCOLD SPRING HARBOR MOLECULAR CASE STUDIES, 2016, 2 (05):Smedemark-Margulies, Niklas论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Immunol, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USABrownstein, Catherine A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USAVargas, Sigella论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Psychiat, Dev Neuropsychiat Res Program, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USATembulkar, Sahil K.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Psychiat, Dev Neuropsychiat Res Program, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USATowne, Meghan C.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USAShi, Jiahai论文数: 0 引用数: 0 h-index: 0机构: City Univ Hong Kong, Dept Biomed Sci, Hong Kong, Hong Kong, Peoples R China Harvard Med Sch, Div Immunol, Boston, MA 02115 USAGonzalez-Cuevas, Elisa论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USALiu, Kevin X.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Psychiat, Dev Neuropsychiat Res Program, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USABilguvar, Kaya论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Yale Ctr Genome Anal, Dept Genet, New Haven, CT 06511 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USAKleiman, Robin J.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Translat Neurosci Ctr, Boston, MA 02115 USA Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA Boston Childrens Hosp, Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USAHan, Min-Joon论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Translat Neurosci Ctr, Boston, MA 02115 USA Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA Boston Childrens Hosp, Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USATorres, Alcy论文数: 0 引用数: 0 h-index: 0机构: Boston Med Ctr, Div Pediat Neurol, Boston, MA 02118 USA Boston Univ, Sch Med, Boston, MA 02118 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USABerry, Gerard T.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USAYu, Timothy W.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USABeggs, Alan H.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USAAgrawal, Pankaj B.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USAGonzalez-Heydrich, Joseph论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Psychiat, Dev Neuropsychiat Res Program, Boston, MA 02115 USA Harvard Med Sch, Dept Psychiat, Boston, MA 02115 USA Harvard Med Sch, Div Immunol, Boston, MA 02115 USA
- [30] Puerto Rican family cohort presenting with rapid-onset dystonia-parkinsonism due to an ATP1A3 Pathogenic VariantNEUROLOGY, 2020, 94 (15)Acevedo, Alexandra Montalvo论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USARodriguez, Natalia论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USADiaz, Mayela Marie Diaz论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USAMontalvo, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USAMontes, Jessica Gonzalez论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USABolo-Diaz, Mireya论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USAHernandez, Janice Rodriguez论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USAVazquez, Marisel论文数: 0 引用数: 0 h-index: 0机构: UPR Sch Med, Child Neurol, San Juan, PR USA UPR Sch Med, Child Neurol, San Juan, PR USA