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- [41] Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han populationSEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2015, 30 : 64 - 69Lv, Nan论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaQu, Jian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Sch Med, Hunan Key Lab Pharmacogenet, Inst Clin Pharmacol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaLong, Hongyu论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaZhou, Luo论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaCao, Yuze论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaLong, Lili论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaLiu, Zhaoqian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Sch Med, Hunan Key Lab Pharmacogenet, Inst Clin Pharmacol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R ChinaXiao, Bo论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China
- [42] Rare CACNA1A mutations leading to congenital ataxiaPflügers Archiv - European Journal of Physiology, 2020, 472 : 791 - 809Mercè Izquierdo-Serra论文数: 0 引用数: 0 h-index: 0机构: Universitat Pompeu Fabra,Laboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la SalutJosé M. Fernández-Fernández论文数: 0 引用数: 0 h-index: 0机构: Universitat Pompeu Fabra,Laboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la SalutMercedes Serrano论文数: 0 引用数: 0 h-index: 0机构: Universitat Pompeu Fabra,Laboratori de Fisiologia Molecular, Departament de Ciències Experimentals i de la Salut
- [43] Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1CCLINICAL IMMUNOLOGY, 2019, 200 : 16 - 18Sundin, Mikael论文数: 0 引用数: 0 h-index: 0机构: Astrid Lindgren Childrens Hosp, Pediat Hematol Immunol & HCT Sect, Stockholm, Sweden Astrid Lindgren Childrens Hosp, Pediat Hematol Immunol & HCT Sect, Stockholm, SwedenMarits, Per论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Karolinska Univ Hosp, Dept Clin Immunol, Stockholm, Sweden Astrid Lindgren Childrens Hosp, Pediat Hematol Immunol & HCT Sect, Stockholm, SwedenRamme, Kim论文数: 0 引用数: 0 h-index: 0机构: Astrid Lindgren Childrens Hosp, Pediat Hematol Immunol & HCT Sect, Stockholm, Sweden Astrid Lindgren Childrens Hosp, Pediat Hematol Immunol & HCT Sect, Stockholm, SwedenKolios, Antonios G. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Zurich, Dept Clin Immunol, Gloriastr 23, CH-8091 Zurich, Switzerland Univ Zurich, Fac Med, Zurich, Switzerland Astrid Lindgren Childrens Hosp, Pediat Hematol Immunol & HCT Sect, Stockholm, Sweden论文数: 引用数: h-index:机构:
- [44] CACNA1H基因变异与神经系统疾病癫痫杂志, 2022, 8 (02) : 146 - 150刘晓睿论文数: 0 引用数: 0 h-index: 0机构: 重庆医科大学附属儿童医院神经内科国家儿童健康与疾病临床医学研究中心儿童发育疾病研究教育部重点实验室儿科学重庆市重点实验室蒋莉论文数: 0 引用数: 0 h-index: 0机构: 重庆医科大学附属儿童医院神经内科国家儿童健康与疾病临床医学研究中心儿童发育疾病研究教育部重点实验室儿科学重庆市重点实验室
- [45] Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous MutationsJOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (04) : 756 - 768Giardino, Giuliana论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, Italy Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalySharapova, Svetlana O.论文数: 0 引用数: 0 h-index: 0机构: Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Res Dept, Minsk, BELARUS Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyCiznar, Peter论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Fac Med, Natl Inst Childhood Dis, Pediat Dept, Bratislava, Slovakia Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, Italy论文数: 引用数: h-index:机构:Maragliano, Luca论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, I-16132 Genoa, Italy Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyDevi, Akella Radha Rama论文数: 0 引用数: 0 h-index: 0机构: Sandor Life Sci Pvt Ltd, Hyderabad, India Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyIslamoglu, Candan论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Med Sch, Dept Pediat Immunol & Allergy, Ankara, Turkey Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyIkinciogullari, Aydan论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Med Sch, Dept Pediat Immunol & Allergy, Ankara, Turkey Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyHaskologlu, Sule论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Med Sch, Dept Pediat Immunol & Allergy, Ankara, Turkey Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyDogu, Figen论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Med Sch, Dept Pediat Immunol & Allergy, Ankara, Turkey Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyHanna-Wakim, Rima论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Dept Pediat & Adolescent Med, Beirut, Lebanon Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyDbaibo, Ghassan论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Dept Pediat & Adolescent Med, Beirut, Lebanon Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyChou, Janet论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Immunol, Boston, MA USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyCirillo, Emilia论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, Italy Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyBorzacchiello, Carla论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, Italy Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyKreins, Alexandra Y.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Immunol, London, England UCL Great Ormond St Inst Child Hlth, London, England Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyWorth, Austen论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Immunol, London, England UCL Great Ormond St Inst Child Hlth, London, England Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyRota, Ioanna A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Paediat, Oxford, England Univ Oxford, Weatherall Inst Mol Med, Oxford, England Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyMarques, Jose G.论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Fac Med, Inst Med Mol, Lisbon, Portugal Ctr Hosp Univ Lisboa Norte, Dept Pediat, Unidade Infecciol & Imunodeficiencias, Lisbon, Portugal Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalySayitoglu, Muge论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Genet, Istanbul, Turkey Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyFirtina, Sinem论文数: 0 引用数: 0 h-index: 0机构: Istinye Univ, Fac Art & Sci, Istanbul, Turkey Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyMahdi, Moaffaq论文数: 0 引用数: 0 h-index: 0机构: King Saud bin Abdulaziz Univ Hlth Sci, Coll Med, Jeddah, Saudi Arabia Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyGeha, Raif论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Immunol, Boston, MA USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyNeven, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Hop Necker Enfants Malad, AP HP, Inst IMAGINE,Paediat Haematol Immunol & Rheumatol, Paris, France Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalySousa, Ana E.论文数: 0 引用数: 0 h-index: 0机构: Univ Lisbon, Fac Med, Inst Med Mol, Lisbon, Portugal Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyBenfenati, Fabio论文数: 0 引用数: 0 h-index: 0机构: Ist Italiano Tecnol, Ctr Synapt Neurosci & Technol, I-16132 Genoa, Italy IRCCS Osped Policlin San Martino, I-16132 Genoa, Italy Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyHollander, Georg A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Paediat, Oxford, England Univ Oxford, Weatherall Inst Mol Med, Oxford, England Univ Basel, Basel Univ Childrens Hosp, Dept Biomed, Paediat Immunol, CH-4052 Basel, Switzerland Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyDavies, E. Graham论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Immunol, London, England UCL Great Ormond St Inst Child Hlth, London, England Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, ItalyPignata, Claudio论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, Italy Federico II Univ Naples, Dept Translat Med Sci, Pediat Sect, Via S Pansini 5, I-80131 Naples, Italy
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- [47] Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous MutationsJournal of Clinical Immunology, 2021, 41 : 756 - 768Giuliana Giardino论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionSvetlana O. Sharapova论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionPeter Ciznar论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionFatima Dhalla论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionLuca Maragliano论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionAkella Radha Rama Devi论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionCandan Islamoglu论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionAydan Ikinciogullari论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionSule Haskologlu论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionFigen Dogu论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionRima Hanna-Wakim论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionGhassan Dbaibo论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionJanet Chou论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionEmilia Cirillo论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionCarla Borzacchiello论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionAlexandra Y. Kreins论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionAusten Worth论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionIoanna A. Rota论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionJosé G. Marques论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionMuge Sayitoglu论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionSinem Firtina论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionMoaffaq Mahdi论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionRaif Geha论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionBénédicte Neven论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionAna E. Sousa论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionFabio Benfenati论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionGeorg A. Hollander论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionE. Graham Davies论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics SectionClaudio Pignata论文数: 0 引用数: 0 h-index: 0机构: Federico II University of Naples,Department of Translational Medical Sciences, Pediatrics Section
- [48] Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in SiblingsJOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (04) : 703 - 705Roderick, Marion论文数: 0 引用数: 0 h-index: 0机构: Bristol Royal Hosp Children, Paediat Immunol & Infect Dis, Bristol, England Bristol Royal Hosp Children, Paediat Immunol & Infect Dis, Bristol, EnglandJefferson, Lucy论文数: 0 引用数: 0 h-index: 0机构: Bristol Royal Hosp Children, Paediat Immunol & Infect Dis, Bristol, England Bristol Royal Hosp Children, Paediat Rheumatol Dept, Bristol, England Bristol Royal Hosp Children, Paediat Immunol & Infect Dis, Bristol, EnglandRenton, William论文数: 0 引用数: 0 h-index: 0机构: Bristol Royal Hosp Children, Paediat Rheumatol Dept, Bristol, England Bristol Royal Hosp Children, Paediat Immunol & Infect Dis, Bristol, England论文数: 引用数: h-index:机构:PRKCD Consortium论文数: 0 引用数: 0 h-index: 0机构: Bristol Royal Hosp Children, Paediat Immunol & Infect Dis, Bristol, England
- [49] Identification of compound heterozygous FTO-mutations in a severe malformation syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1187 - 1188Siebers-Renelt, U.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Munster, Germany Inst Human Genet & Anthropol, Munster, GermanyStratis, Y.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Munster, Germany Inst Human Genet & Anthropol, Munster, GermanySeggewiss, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Munster, Germany Inst Human Genet & Anthropol, Munster, GermanyLedig, S.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Munster, Germany Inst Human Genet & Anthropol, Munster, GermanyHorvath, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Munster, Germany Inst Human Genet & Anthropol, Munster, GermanyWieacker, P.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet & Anthropol, Munster, Germany Inst Human Genet & Anthropol, Munster, Germany
- [50] Inactivation of CACNA1H induces cell apoptosis by initiating endoplasmic reticulum stress in gliomaTRANSLATIONAL NEUROSCIENCE, 2023, 14 (01)Liu, Sheng论文数: 0 引用数: 0 h-index: 0机构: Binzhou Med Univ Hosp, Dept Neurosurg, Binzhou 256603, Peoples R China Shandong Univ, Shandong Prov Hosp, Dept Neurosurg, 324 Jingwuweiqi Rd, Jinan 250021, Peoples R ChinaBa, Ying论文数: 0 引用数: 0 h-index: 0机构: Binzhou Med Univ Hosp, Dept Gastroenterol, Binzhou 256603, Peoples R China Shandong Univ, Shandong Prov Hosp, Dept Neurosurg, 324 Jingwuweiqi Rd, Jinan 250021, Peoples R ChinaLi, Chenglong论文数: 0 引用数: 0 h-index: 0机构: Binzhou Med Univ Hosp, Dept Neurosurg, Binzhou 256603, Peoples R China Shandong Univ, Shandong Prov Hosp, Dept Neurosurg, 324 Jingwuweiqi Rd, Jinan 250021, Peoples R ChinaXu, Guangming论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Shandong Prov Hosp, Dept Neurosurg, 324 Jingwuweiqi Rd, Jinan 250021, Peoples R China Shandong Univ, Shandong Prov Hosp, Dept Neurosurg, 324 Jingwuweiqi Rd, Jinan 250021, Peoples R China