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- [12] An unusual case of familial cystic kidney diseaseCLINICAL KIDNEY JOURNAL, 2014, 7 (05):Gopaluni, Seerapani论文数: 0 引用数: 0 h-index: 0机构: Royal Berkshire Hosp, Renal Unit, Reading, Berks, England Royal Berkshire Hosp, Renal Unit, Reading, Berks, EnglandGibson, Matthew论文数: 0 引用数: 0 h-index: 0机构: Royal Berkshire Hosp, Dept Radiol, Reading, Berks, England Royal Berkshire Hosp, Renal Unit, Reading, Berks, EnglandMohteshamzadeh, Mobin论文数: 0 引用数: 0 h-index: 0机构: Royal Berkshire Hosp, Renal Unit, Reading, Berks, England Royal Berkshire Hosp, Renal Unit, Reading, Berks, England
- [13] Primary aldosteronism associated with a germline variant in CACNA1HBMJ CASE REPORTS, 2019, 12 (05)Wulczyn, Kendra论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Med, San Francisco, CA 94143 USA UCSF, Dept Med, San Francisco, CA 94143 USAPerez-Reyes, Edward论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Pharmacol, Charlottesville, VA 22908 USA UCSF, Dept Med, San Francisco, CA 94143 USANussbaum, Robert L.论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA UCSF, Dept Med, San Francisco, CA 94143 USAPark, Meyeon论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Med, San Francisco, CA 94143 USA UCSF, Dept Med, San Francisco, CA 94143 USA
- [14] Splice-variant specific effects of a CACNA1H mutation associated with writer's crampMOLECULAR BRAIN, 2021, 14 (01)论文数: 引用数: h-index:机构:Gandini, Maria A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Dept Physiol & Pharmacol, Hotchkiss Brain Inst,Cumming Sch Med,Res Inst, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Dept Physiol & Pharmacol, Hotchkiss Brain Inst,Cumming Sch Med,Res Inst, Calgary, AB, CanadaZamponi, Gerald W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Dept Physiol & Pharmacol, Hotchkiss Brain Inst,Cumming Sch Med,Res Inst, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Dept Physiol & Pharmacol, Hotchkiss Brain Inst,Cumming Sch Med,Res Inst, Calgary, AB, Canada
- [15] Splice-variant specific effects of a CACNA1H mutation associated with writer’s crampMolecular Brain, 14Ivana A. Souza论文数: 0 引用数: 0 h-index: 0机构: University of Calgary,Department of Physiology and Pharmacology, Hotchkiss Brain Institute, Cumming School of Medicine, Alberta Children’s Hospital Research Institute,Maria A. Gandini论文数: 0 引用数: 0 h-index: 0机构: University of Calgary,Department of Physiology and Pharmacology, Hotchkiss Brain Institute, Cumming School of Medicine, Alberta Children’s Hospital Research Institute,Gerald W. Zamponi论文数: 0 引用数: 0 h-index: 0机构: University of Calgary,Department of Physiology and Pharmacology, Hotchkiss Brain Institute, Cumming School of Medicine, Alberta Children’s Hospital Research Institute,
- [16] Genetic variants and down-regulation of CACNA1H in pheochromocytomaENDOCRINE-RELATED CANCER, 2024, 31 (09)Svahn, Fredrika论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenHose, Karolina Solhuslokk论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenStenman, Adam论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Breast Endocrine Tumors & Sarcoma, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenLiu, Yaxuan论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden Fudan Univ, Obstet & Gynecol Hosp, Dept Breast Surg, Shanghai, Peoples R China Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenCalissendorff, Jan论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenTham, Emma论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenVegvari, Akos论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Med Biochem & Biophys, Div Chem 1, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenZubarev, Roman A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Med Biochem & Biophys, Div Chem 1, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenWang, Na论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden KAROLINSKA INST, Dept Med Huddinge, HUDDINGE, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenKorah, Reju论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Surg, Yale Endocrine Neoplasia Lab, New Haven, CT USA Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenCarling, Tobias论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Surg, Yale Endocrine Neoplasia Lab, New Haven, CT USA Carling Adrenal Ctr, Tampa, FL USA Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenZedenius, Jan论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Breast Endocrine Tumors & Sarcoma, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenBranstrom, Robert论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Breast Endocrine Tumors & Sarcoma, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenJuhlin, C. Christofer论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Pathol & Canc Diagnost, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, SwedenLarsson, Catharina论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden
- [17] Contribution of CACNA1H Variants in Autism Spectrum Disorder SusceptibilityFRONTIERS IN PSYCHIATRY, 2022, 13论文数: 引用数: h-index:机构:D'Andrea, Tiziano论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Physiol & Pharmacol, Rome, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy论文数: 引用数: h-index:机构:Posar, Annio论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci IRCCS, Ist Sci Neurol Bologna, Unita Operat Semplice Ist UOSI Disturbi Spettro A, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, ItalyVisconti, Paola论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci IRCCS, Ist Sci Neurol Bologna, Unita Operat Semplice Ist UOSI Disturbi Spettro A, Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, ItalyScaduto, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci IRCCS, Ist Sci Neurol Bologna, Unita Operat Semplice Ist UOSI Disturbi Spettro A, Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, ItalyColucci, Roberta论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci IRCCS, Ist Sci Neurol Bologna, Unita Operat Semplice Ist UOSI Disturbi Spettro A, Bologna, Italy Univ Bologna, Dept Med & Surg Sci, Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, ItalyRochat, Magali J.论文数: 0 引用数: 0 h-index: 0机构: Ist Ricovero & Cura Carattere Sci IRCCS, Ist Sci Neurol Bologna, Funct & Mol Neuroimaging Unit, Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, ItalyCeroni, Fabiola论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, ItalyMilazzo, Giorgio论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, ItalyFucile, Sergio论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Physiol & Pharmacol, Rome, Italy Ist Ricovero & Cura Carattere Sci IRCCS Neuromed, Pozzilli, Italy Univ Bologna, Dept Pharm & Biotechnol, Bologna, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [18] Evaluation of CACNA1H in European patients with childhood absence epilepsyEPILEPSY RESEARCH, 2006, 69 (02) : 177 - 181Chioza, Barry论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandEverett, Kate论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandAschauer, Harald论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandBrouwer, Oebele论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandCallenbach, Petra论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandCovanis, Athanasios论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandDulac, Olivier论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandDurner, Martina论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandEeg-Olofsson, Orvar论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandFeucht, Martha论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandFriis, Mogens论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandHeils, Armin论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandKjeldsen, Marianne论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandLarsson, Katrin论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandLehesjoki, Anna-Elina论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandNabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandOlsson, Ingrid论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandSander, Thomas论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandSirén, Auli论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandRobinson, Robert论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandRees, Michele论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, EnglandGardiner, R. Mark论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Paediat & Child Hlth, Royal Free & Univ Coll, Sch Med, London WC1E 6JJ, England
- [19] Preliminary studies on the epileptogenicity of the calcium channel CACNA1H geneJOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455Wang, Anqi论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Paediat Neurol, Chengdu, Peoples R China Sichuan Univ, West China Univ Hosp 2, Paediat Neurol, Chengdu, Peoples R China
- [20] CACNA1H Mutations Are Associated With Different Forms of Primary AldosteronismEBIOMEDICINE, 2016, 13 : 225 - 236Daniil, Georgios论文数: 0 引用数: 0 h-index: 0机构: INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, France Univ Paris 05, Sorbonne Paris Cite, Paris, France INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Blesneac, Iulia论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CNRS UMR 5203, Inst Genom Fonct, INSERM U 1191, F-34094 Montpellier, France LabEx Ion Channel Sci & Therapeut, F-34094 Montpellier, France INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, FranceBeltrand, Jacques论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Paris, France Hop Necker Enfants Malad, AP HP, Serv Endocrinol, Paris, France Inserm UMR 1016, Inst Cochin, Paris, France Paris Descartes Univ Sorbonne Paris Cite, Inst Imagine, Paris, France INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, France论文数: 引用数: h-index:机构:Jeunemaitre, Xavier论文数: 0 引用数: 0 h-index: 0机构: INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, France Univ Paris 05, Sorbonne Paris Cite, Paris, France Hop Europeen Georges Pompidou, AP HP, Serv Genet, Paris, France INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, FranceBoulkroun, Sheerazed论文数: 0 引用数: 0 h-index: 0机构: INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, France Univ Paris 05, Sorbonne Paris Cite, Paris, France INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, France论文数: 引用数: h-index:机构:Strom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Munich, Germany INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, FranceLory, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CNRS UMR 5203, Inst Genom Fonct, INSERM U 1191, F-34094 Montpellier, France LabEx Ion Channel Sci & Therapeut, F-34094 Montpellier, France INSERM, Paris Cardiovasc Res Ctr, UMRS 970, Paris, France论文数: 引用数: h-index:机构: