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- [31] A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermianeurogenetics, 2016, 17 : 245 - 249Tiago A. Mestre论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineAndreea Manole论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineHeather MacDonald论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineSheila Riazi论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineNatalia Kraeva论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineMichael G. Hanna论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineAnthony E. Lang论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineRoope Männikkö论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of MedicineGrace Yoon论文数: 0 引用数: 0 h-index: 0机构: University of Toronto,Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of Medicine
- [32] A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermiaNEUROGENETICS, 2016, 17 (04) : 245 - 249Mestre, Tiago A.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, Canada Univ Toronto, Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Univ Hlth Network,Div Neurol,Dept Med, Toronto, ON, Canada Univ Ottawa, Ottawa Hosp Res Inst, Parkinsons Dis & Movement Disorders Ctr, Div Neurol,Dept Med, Ottawa, ON, Canada Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaManole, Andreea论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Mol Neurosci, MRC Ctr Neuromuscular Dis, Queen Sq, London WC1N 3BT, England Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaMacDonald, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaRiazi, Sheila论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Toronto Gen Hosp, Dept Anesthesia, Malignant Hyperthermia Invest Unit, Toronto, ON, Canada Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaKraeva, Natalia论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Toronto Gen Hosp, Dept Anesthesia, Malignant Hyperthermia Invest Unit, Toronto, ON, Canada Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaHanna, Michael G.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Mol Neurosci, MRC Ctr Neuromuscular Dis, Queen Sq, London WC1N 3BT, England Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaLang, Anthony E.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, Canada Univ Toronto, Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Univ Hlth Network,Div Neurol,Dept Med, Toronto, ON, Canada Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaMaennikkoe, Roope论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Mol Neurosci, MRC Ctr Neuromuscular Dis, Queen Sq, London WC1N 3BT, England Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, CanadaYoon, Grace论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Div Neurol, Dept Paediat, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Univ Toronto, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, Canada
- [33] Phenotypic Variability in a Four Generation Family With a p.Thr666Met CACNA1A Gene MutationPEDIATRIC NEUROLOGY, 2014, 51 (04) : 557 - 559Garcia-Baro-Huarte, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, Spain Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, SpainMaria Iglesias-Mohedano, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Gregorio Maranon, Gen Hosp, Dept Neurol, Madrid 28009, Spain Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, SpainSloecker-Barrio, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, Spain Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, SpainVazquez-Lopez, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Gregorio Maranon, Gen Hosp, Sect Neuropaediat, Madrid 28009, Spain Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, SpainGarcia-Morin, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, Spain Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, SpainConcepcion Miranda-Herrero, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Gregorio Maranon, Gen Hosp, Sect Neuropaediat, Madrid 28009, Spain Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, SpainCastro-Castro, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Gregorio Maranon, Gen Hosp, Sect Neuropaediat, Madrid 28009, Spain Univ Gregorio Maranon, Gen Hosp, Dept Paediat, Madrid 28009, Spain
- [34] A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctionsMOLECULAR AND CELLULAR NEUROSCIENCE, 2017, 83 : 6 - 12Imbrici, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyAltamura, Concetta论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyGualandi, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ferrara, Dept Med Sci, Logist Unit Med Genet, Ferrara, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyMangiatordi, Giuseppe Felice论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyNeri, Marcella论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ferrara, Dept Med Sci, Logist Unit Med Genet, Ferrara, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyDe Maria, Giovanni论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Unit Neurophysiopathol, Brescia, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyFerlini, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ferrara, Dept Med Sci, Logist Unit Med Genet, Ferrara, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyPadovani, Alessandro论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Unit Neurol, Ctr Neuromuscular Dis & Neuropathies, Brescia, Italy Univ Brescia, Brescia, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyD'Adamo, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Malta, Dept Physiol & Biochem, Fac Med, MSD-2080 Msida, Malta Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyNicolotti, Orazio论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyPessia, Mauro论文数: 0 引用数: 0 h-index: 0机构: Univ Malta, Dept Physiol & Biochem, Fac Med, MSD-2080 Msida, Malta Univ Perugia, Sect Physiol & Biochem, Dept Expt Med, Sch Med, Perugia, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyConte, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyFilosto, Massimiliano论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Unit Neurol, Ctr Neuromuscular Dis & Neuropathies, Brescia, Italy Univ Brescia, Brescia, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, ItalyDesaphy, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, Via Orabona 4, I-70125 Bari, Italy
- [35] A NOVEL KCNA1 MUTATION IDENTIFIED IN AN ITALIAN FAMILY AFFECTED BY EPISODIC ATAXIA TYPE 1NEUROSCIENCE, 2008, 157 (03) : 577 - 587Imbrici, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, Italy Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, ItalyGualandi, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Med Genet Sect, I-44100 Ferrara, Italy Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, ItalyD'Adamo, M. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, Italy Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, ItalyMasieri, M. Taddei论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Med Genet Sect, I-44100 Ferrara, Italy Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Tucker, S. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Phys, Clarendon Lab, Oxford OX1 3PU, England Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, ItalyFerlini, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Med Genet Sect, I-44100 Ferrara, Italy Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, ItalyPessia, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, Italy Univ Perugia, Sch Med, Dept Internal Med, Sect Human Physiol, I-06126 Perugia, Italy
- [36] Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean FamilyJOURNAL OF KOREAN MEDICAL SCIENCE, 2012, 27 (09) : 1124 - 1127Choi, Kyung-Ho论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South Korea Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South KoreaKim, Jang Su论文数: 0 引用数: 0 h-index: 0机构: Korea Univ, Coll Med, Guro Hosp, Dept Lab Med & Genet, Seoul 136705, South Korea Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South KoreaLee, Seo-Young论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South Korea Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South KoreaRyu, Suk-won论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ Hosp, Dept Lab Med, Coll Med, Chunchon 200722, South Korea Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South KoreaKim, Sam Su论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ Hosp, Dept Radiol, Coll Med, Chunchon 200722, South Korea Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South KoreaLee, Seung-hwan论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South Korea Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South KoreaKim, Sunghun论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South Korea Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South KoreaPark, Hee-Kwon论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ Hosp, Dept Neurol, Coll Med, Chunchon 200722, South Korea