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- [1] CACNA1A variant associated with generalized dystoniaNEUROLOGICAL SCIENCES, 2024, 45 (09) : 4589 - 4592Rinaldi, Domiziana论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, Italy Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, ItalyTangari, Marta Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci Rita Levi Montalcini, Turin, Italy AOU Citta Salute & Sci Torino, Neurol Unit 2, Corso Bramante 88, I-10126 Turin, Italy Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, ItalyLedda, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci Rita Levi Montalcini, Turin, Italy AOU Citta Salute & Sci Torino, Neurol Unit 2, Corso Bramante 88, I-10126 Turin, Italy Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, ItalyDematteis, Francesca论文数: 0 引用数: 0 h-index: 0机构: Osped Rivoli, Dept Neurol, ASL 3,Via Rivalta 29, I-10098 Turin, Italy Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, ItalyRizzone, Mario Giorgio论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci Rita Levi Montalcini, Turin, Italy AOU Citta Salute & Sci Torino, Neurol Unit 2, Corso Bramante 88, I-10126 Turin, Italy Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, ItalyLopiano, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci Rita Levi Montalcini, Turin, Italy AOU Citta Salute & Sci Torino, Neurol Unit 2, Corso Bramante 88, I-10126 Turin, Italy Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, ItalyArtusi, Carlo Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci Rita Levi Montalcini, Turin, Italy AOU Citta Salute & Sci Torino, Neurol Unit 2, Corso Bramante 88, I-10126 Turin, Italy Sapienza Univ Rome, Dept Neurosci Mental Hlth & Sense Organs NESMOS, Via Grottarossa 1035, I-00189 Rome, Italy
- [2] CACNA1A MUTATION PRESENTING WITH FOCAL DYSTONIAJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2017, 88 (05):Gu, Jason论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Dept Neurol, St Leonards, NSW, Australia Wollongong Hosp, Neurol, Wollongong, NSW, Australia Royal North Shore Hosp, Dept Neurol, St Leonards, NSW, AustraliaKumar, Kishore R.论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Dept Neurol, St Leonards, NSW, Australia Univ Sydney, Camperdown, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Royal North Shore Hosp, Dept Neurol, St Leonards, NSW, AustraliaSue, Carolyn M.论文数: 0 引用数: 0 h-index: 0机构: Royal North Shore Hosp, Dept Neurol, St Leonards, NSW, Australia Univ Sydney, Camperdown, NSW, Australia Royal North Shore Hosp, Dept Neurol, St Leonards, NSW, Australia
- [3] Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndromeJOURNAL OF THE NEUROLOGICAL SCIENCES, 2020, 415Fuerte-Hortigon, A.论文数: 0 引用数: 0 h-index: 0机构: Virgen Macarena Hosp, Dept Neurol, Seville, Spain Virgen Macarena Hosp, Dept Neurol, Seville, SpainPerez-Noguera, R.论文数: 0 引用数: 0 h-index: 0机构: Virgen Macarena Hosp, Dept Neurol, Seville, Spain Virgen Macarena Hosp, Dept Neurol, Seville, SpainDotor Garcia-Soto, J.论文数: 0 引用数: 0 h-index: 0机构: Virgen Macarena Hosp, Dept Neurol, Seville, Spain Virgen Macarena Hosp, Dept Neurol, Seville, SpainRoyo Boronat, I.论文数: 0 引用数: 0 h-index: 0机构: Reference Lab SA, Barcelona, Spain Virgen Macarena Hosp, Dept Neurol, Seville, SpainAlvarez de Andres, S.论文数: 0 引用数: 0 h-index: 0机构: Spanish Natl Canc Res Ctr CNIO, Madrid, Spain Virgen Macarena Hosp, Dept Neurol, Seville, SpainGarcia-Moreno, J. M.论文数: 0 引用数: 0 h-index: 0机构: Virgen Macarena Hosp, Dept Neurol, Seville, Spain Virgen Macarena Hosp, Dept Neurol, Seville, Spain
- [4] A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndromeNature Genetics, 2015, 47 : 387 - 392Tin Aung论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyMineo Ozaki论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyTakanori Mizoguchi论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyR Rand Allingham论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyZheng Li论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyAravind Haripriya论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologySatoko Nakano论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologySteffen Uebe论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyJeffrey M Harder论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyAnita S Y Chan论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyMei Chin Lee论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyKathryn P Burdon论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyYury S Astakhov论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyKhaled K Abu-Amero论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyJuan C Zenteno论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyYildirim Nilgün论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyTomasz Zarnowski论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyMohammad Pakravan论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyLeen Abu Safieh论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyLiyun Jia论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyYa Xing Wang论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologySusan Williams论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyDaniela Paoli论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyPatricio G Schlottmann论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyLulin Huang论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyKar Seng Sim论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyJia Nee Foo论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyMasakazu Nakano论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyYoko Ikeda论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyRajesh S Kumar论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyMorio Ueno论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyShin-ichi Manabe论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyKen Hayashi论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyShigeyasu Kazama论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyRyuichi Ideta论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyYosai Mori论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyKazunori Miyata论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyKazuhisa Sugiyama论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyTomomi Higashide论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyEtsuo Chihara论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyKenji Inoue论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologySatoshi Ishiko论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyAkitoshi Yoshida论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyMasahide Yanagi论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyYoshiaki Kiuchi论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyMakoto Aihara论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyTsutomu Ohashi论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyToshiya Sakurai论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyTakako Sugimoto论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of OphthalmologyHideki Chuman论文数: 0 引用数: 0 h-index: 0机构: Singapore Eye Research Institute,Department of Ophthalmology
- [5] Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case reportBMJ NEUROLOGY OPEN, 2024, 6 (01)Alshareet, Mohammed论文数: 0 引用数: 0 h-index: 0机构: KFMC, Natl Neurosci Inst, Dept Neurol, Riyadh, Saudi Arabia KFMC, Natl Neurosci Inst, Dept Neurol, Riyadh, Saudi ArabiaAlakkas, Aljoharah论文数: 0 引用数: 0 h-index: 0机构: KFMC, Natl Neurosci Inst, Dept Neurol, Movement Disorders Div, Riyadh, Saudi Arabia KFMC, Natl Neurosci Inst, Dept Neurol, Riyadh, Saudi ArabiaAlsinaidi, Omar A.论文数: 0 引用数: 0 h-index: 0机构: KFMC, Natl Neurosci Inst, Dept Neurol, Movement Disorders Div, Riyadh, Saudi Arabia KFMC, Natl Neurosci Inst, Dept Neurol, Riyadh, Saudi ArabiaBawazeer, Shahad论文数: 0 引用数: 0 h-index: 0机构: KFMC, Dept Med Genet, Riyadh, Saudi Arabia KFMC, Natl Neurosci Inst, Dept Neurol, Riyadh, Saudi ArabiaPeer-Zada, Abdul Ali论文数: 0 引用数: 0 h-index: 0机构: KFMC, Mol Pathol Pathol & Clin Lab Med Adm, Riyadh, Saudi Arabia KFMC, Natl Neurosci Inst, Dept Neurol, Riyadh, Saudi Arabia
- [6] Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild AtaxiaCASE REPORTS IN NEUROLOGICAL MEDICINE, 2021, 2021Stampfl, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Neurol, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Neurol, Milwaukee, WI 53226 USAFee, Dominic论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Neurol, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Neurol, Milwaukee, WI 53226 USA
- [7] Correction: Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndromeNature Genetics, 2015, 47 : 689 - 689Tin Aung论文数: 0 引用数: 0 h-index: 0Mineo Ozaki论文数: 0 引用数: 0 h-index: 0Takanori Mizoguchi论文数: 0 引用数: 0 h-index: 0R Rand Allingham论文数: 0 引用数: 0 h-index: 0Zheng Li论文数: 0 引用数: 0 h-index: 0Aravind Haripriya论文数: 0 引用数: 0 h-index: 0Satoko Nakano论文数: 0 引用数: 0 h-index: 0Steffen Uebe论文数: 0 引用数: 0 h-index: 0Jeffrey M Harder论文数: 0 引用数: 0 h-index: 0Anita S Y Chan论文数: 0 引用数: 0 h-index: 0Mei Chin Lee论文数: 0 引用数: 0 h-index: 0Kathryn P Burdon论文数: 0 引用数: 0 h-index: 0Yury S Astakhov论文数: 0 引用数: 0 h-index: 0Khaled K Abu-Amero论文数: 0 引用数: 0 h-index: 0Juan C Zenteno论文数: 0 引用数: 0 h-index: 0Yildirim Nilgün论文数: 0 引用数: 0 h-index: 0Tomasz Zarnowski论文数: 0 引用数: 0 h-index: 0Mohammad Pakravan论文数: 0 引用数: 0 h-index: 0Leen Abu Safieh论文数: 0 引用数: 0 h-index: 0Liyun Jia论文数: 0 引用数: 0 h-index: 0Ya Xing Wang论文数: 0 引用数: 0 h-index: 0Susan Williams论文数: 0 引用数: 0 h-index: 0Daniela Paoli论文数: 0 引用数: 0 h-index: 0Patricio G Schlottmann论文数: 0 引用数: 0 h-index: 0Lulin Huang论文数: 0 引用数: 0 h-index: 0Kar Seng Sim论文数: 0 引用数: 0 h-index: 0Jia Nee Foo论文数: 0 引用数: 0 h-index: 0Masakazu Nakano论文数: 0 引用数: 0 h-index: 0Yoko Ikeda论文数: 0 引用数: 0 h-index: 0Rajesh S Kumar论文数: 0 引用数: 0 h-index: 0Morio Ueno论文数: 0 引用数: 0 h-index: 0Shin-ichi Manabe论文数: 0 引用数: 0 h-index: 0Ken Hayashi论文数: 0 引用数: 0 h-index: 0Shigeyasu Kazama论文数: 0 引用数: 0 h-index: 0Ryuichi Ideta论文数: 0 引用数: 0 h-index: 0Yosai Mori论文数: 0 引用数: 0 h-index: 0Kazunori Miyata论文数: 0 引用数: 0 h-index: 0Kazuhisa Sugiyama论文数: 0 引用数: 0 h-index: 0Tomomi Higashide论文数: 0 引用数: 0 h-index: 0Etsuo Chihara论文数: 0 引用数: 0 h-index: 0Kenji Inoue论文数: 0 引用数: 0 h-index: 0Satoshi Ishiko论文数: 0 引用数: 0 h-index: 0Akitoshi Yoshida论文数: 0 引用数: 0 h-index: 0Masahide Yanagi论文数: 0 引用数: 0 h-index: 0Yoshiaki Kiuchi论文数: 0 引用数: 0 h-index: 0Makoto Aihara论文数: 0 引用数: 0 h-index: 0Tsutomu Ohashi论文数: 0 引用数: 0 h-index: 0Toshiya Sakurai论文数: 0 引用数: 0 h-index: 0Takako Sugimoto论文数: 0 引用数: 0 h-index: 0Hideki Chuman论文数: 0 引用数: 0 h-index: 0
- [8] EA2 and temporal lobe epilepsy associated with a novel variant in CACNA1ASEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2023, 108 : 10 - 12Lu, Xi论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Yong Wai Zheng St 17, Nanchang 330006, Peoples R China Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Yong Wai Zheng St 17, Nanchang 330006, Peoples R ChinaXie, Xufang论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Yong Wai Zheng St 17, Nanchang 330006, Peoples R China Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Yong Wai Zheng St 17, Nanchang 330006, Peoples R China
- [9] Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystoniaARCHIVES OF NEUROLOGY, 2005, 62 (02) : 314 - 316Spacey, SD论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Neurol, Vancouver, BC V5Z 1M9, CanadaMaterek, LA论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Neurol, Vancouver, BC V5Z 1M9, CanadaSzczygielski, BI论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Neurol, Vancouver, BC V5Z 1M9, CanadaBird, TD论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Neurol, Vancouver, BC V5Z 1M9, Canada
- [10] A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channelsMOLECULAR BRAIN, 2021, 14 (01)Gambeta, Eder论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, CanadaGandini, Maria A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, Canada论文数: 引用数: h-index:机构:Ferron, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, CanadaZamponi, Gerald W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Cumming Sch Med, Hotchkiss Brain Inst,Dept Physiol & Pharmacol,Res, Calgary, AB, Canada