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- [21] The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populationsCLINICAL GENETICS, 2024, 105 (04) : 446 - 452Kartanou, Chrisoula论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceMitrousias, Alexandros论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreecePellerin, David论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada UCL, UCL Queen Sq Inst Neurol London, Dept Neuromuscular Dis, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceKontogeorgiou, Zoi论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceIruzubieta, Pablo论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol London, Dept Neuromuscular Dis, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England Donostia Univ Hosp, Biogipuzkoa Hlth Res Inst, Dept Neurol, Donostia San Sebastian, Spain Inst Salud Carlos III CIBER CIBERNED ISCIII, CIBERNED Ctr Invest Biomed Red Enfermedades Neurod, Madrid, Spain Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceDicaire, Marie-Josee论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceDanzi, Matt C.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL USA Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceKoniari, Chrysoula论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceAthanassopoulos, Konstantinos论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreecePanas, Marios论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceStefanis, Leonidas论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Hosp, Dept Neurol 1, Athens, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL USA Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceBrais, Bernard论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol London, Dept Neuromuscular Dis, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceKaradima, Georgia论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, GreeceKoutsis, Georgios论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece Natl & Kapodistrian Univ Athens, Eginitio Univ Hosp, Dept Neurol 1, Neurogenet Unit, Athens 11528, Greece
- [22] Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxiaJournal of Neurology, 2022, 269 : 6086 - 6093Fatemeh Ghorbani论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenJelkje de Boer-Bergsma论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenCorien C. Verschuuren-Bemelmans论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenMaartje Pennings论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenEddy N. de Boer论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenBerry Kremer论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenEls K. Vanhoutte论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenJeroen J. de Vries论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenRaymond van de Berg论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenErik-Jan Kamsteeg论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenCleo C. van Diemen论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenHelga Westers论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenBart P. van de Warrenburg论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center GroningenDineke S. Verbeek论文数: 0 引用数: 0 h-index: 0机构: University of Groningen,Department of Genetics, HPC CB50, University Medical Center Groningen
- [23] Gluten sensitivity in Japanese patients with adult-onset cerebellar ataxiaINTERNAL MEDICINE, 2006, 45 (03) : 135 - 140Ihara, Masafumi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Horizontal Med Res Org, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, JapanMakino, Fumi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, Japan论文数: 引用数: h-index:机构:Mezaki, Takahiro论文数: 0 引用数: 0 h-index: 0机构: Sakakibara Hakuho Hosp, Dept Neurol, Hisai, Mie, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, JapanMizutani, Kotaro论文数: 0 引用数: 0 h-index: 0机构: Sakakibara Hakuho Hosp, Dept Neurol, Hisai, Mie, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, JapanNakase, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Gastroenterol, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, JapanMatsui, Makoto论文数: 0 引用数: 0 h-index: 0机构: Natl Utano Hosp, Dept Neurol, Ctr Neurol Dis, Kyoto, Japan Natl Utano Hosp, Clin Res Ctr, Ctr Neurol Dis, Kyoto, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, JapanTomimoto, Hidekazu论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, JapanShimohama, Shun论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068501, Japan
- [24] A cerebellar ataxia patient harboring 229 pure GAA repeat units in FGF14 presenting with grip myotoniaNEUROLOGY AND CLINICAL NEUROSCIENCE, 2024, 12 (06): : 366 - 368Mori, Yasuko论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Yoshikura, Nobuaki论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, JapanHayashi, Yuichi论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan Tsuruga Nursing Univ, Fac Nursing Sci, Tsuruga, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, JapanHigashida, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, JapanKimura, Akio论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, JapanKoshimizu, Eriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, JapanShimohata, Takayoshi论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan
- [25] Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean FamilyMOVEMENT DISORDERS, 2023, 38 (06) : 1107 - 1109Saffie Awad, Paula论文数: 0 引用数: 0 h-index: 0机构: Ctr Trastornos Movimiento, Santiago, Chile Clin Santa Maria, Santiago, Chile Ctr Trastornos Movimiento, Santiago, ChileLohmann, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Ctr Trastornos Movimiento, Santiago, ChileHirmas, Yasmin论文数: 0 引用数: 0 h-index: 0机构: Univ Los Andes, Santiago, Chile Ctr Trastornos Movimiento, Santiago, ChileHinrichs, Frauke论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Ctr Trastornos Movimiento, Santiago, ChileThomsen, Mirja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Ctr Trastornos Movimiento, Santiago, ChileKauffman, Marcelo论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Agudos Jose Maria Ramos Mejia, Neurogenet Unit, Buenos Aires, DF, Argentina Univ Austral CONICET, IIMT FCB, Buenos Aires, DF, Argentina Ctr Trastornos Movimiento, Santiago, ChileLueth, Theresa论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Ctr Trastornos Movimiento, Santiago, ChileTrinh, Joanne论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Ctr Trastornos Movimiento, Santiago, ChileWestenberger, Ana论文数: 0 引用数: 0 h-index: 0机构: Ctr Trastornos Movimiento, Santiago, Chile Univ Lubeck, Inst Neurogenet, Lubeck, Germany Ctr Trastornos Movimiento, Santiago, ChileChana-Cuevas, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago Chile, Fac Ciencias Med, Santiago, Chile Ctr Trastornos Movimiento, Santiago, ChileKlein, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Ctr Trastornos Movimiento, Santiago, Chile
- [26] Deep intronic FGF14 GAA repeat expansion is a frequent cause of Episodic Ataxia in Italian patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 507 - 507Sarto, Elisa论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyDi Bella, Daniela论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyMagri, Stefania论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyNanetti, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyFenu, Silvia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyFichera, Mario论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalySalsano, Ettore论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Rare Neurodegenerat & Neurometab Dis, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyPareyson, Davide论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Rare Neurodegenerat & Neurometab Dis, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyGellera, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyMariotti, Caterina论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, ItalyTaroni, Franco论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Milan, Italy
- [27] Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese populationEuropean Journal of Human Genetics, 2025, 33 (3) : 325 - 333Toshiyuki Kakumoto论文数: 0 引用数: 0 h-index: 0机构: The University of Tokyo,Department of Neurology, Graduate School of Medicine The University of Tokyo,Department of Neurology, Graduate School of MedicineKenta Orimo论文数: 0 引用数: 0 h-index: 0机构: The University of Tokyo,Department of Neurology, Graduate School of Medicine The University of Tokyo,Department of Neurology, Graduate School of MedicineTakashi Matsukawa论文数: 0 引用数: 0 h-index: 0机构: The University of Tokyo,Department of Neurology, Graduate School of Medicine The University of Tokyo,Department of Neurology, Graduate School of MedicineJun Mitsui论文数: 0 引用数: 0 h-index: 0机构: The University of Tokyo,Department of Neurology, Graduate School of Medicine The University of Tokyo,Department of Neurology, Graduate School of MedicineTomohiko Ishihara论文数: 0 引用数: 0 h-index: 0机构: The University of Tokyo,Department of Precision Medicine Neurology, Graduate School of Medicine The University of Tokyo,Department of Neurology, Graduate School of MedicineOsamu Onodera论文数: 0 引用数: 0 h-index: 0机构: Niigata University,Department of Neurology, Brain Research Institute The University of Tokyo,Department of Neurology, Graduate School of MedicineYuta Suzuki论文数: 0 引用数: 0 h-index: 0机构: Niigata University,Advanced Treatment of Neurological Diseases Branch, Brain Research Institute The University of Tokyo,Department of Neurology, Graduate School of MedicineShinichi Morishita论文数: 0 引用数: 0 h-index: 0机构: Niigata University,Department of Neurology, Brain Research Institute The University of Tokyo,Department of Neurology, Graduate School of MedicineTatsushi Toda论文数: 0 引用数: 0 h-index: 0机构: Niigata University,Department of Molecular Neuroscience, Brain Research Institute The University of Tokyo,Department of Neurology, Graduate School of MedicineShoji Tsuji论文数: 0 引用数: 0 h-index: 0机构: The University of Tokyo,Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences The University of Tokyo,Department of Neurology, Graduate School of Medicine
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- [29] GRID2 mutations span from congenital to mild adult-onset cerebellar ataxiaNEUROLOGY, 2015, 84 (17) : 1751 - 1759Coutelier, Marie论文数: 0 引用数: 0 h-index: 0机构: ICM, Inst Cerveau & Moelle Epiniere, Paris, France CNRS, UMR 7225, Paris, France Univ Paris 06, Sorbonne Univ, UMRS 1127, Paris, France INSERM, U1127, Paris, France Catholic Univ Louvain, Duve Inst, Lab Human Mol Genet, B-1200 Brussels, Belgium CHU Pitie Salpetriere, ICM, Ecole Prat Hautes Etud, Lab Neurogenet, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceBurglen, Lydie论文数: 0 引用数: 0 h-index: 0机构: Paris Lyon Lille, Ctr Reference Malformat & Malad Congenitales Cerv, Paris, France INSERM, U1141, Paris, France Armand Trousseau Hosp, AP HP, Dept Genet, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceMundwiller, Emeline论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1127, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceAbada-Bendib, Myriam论文数: 0 引用数: 0 h-index: 0机构: CHU Bab El Oued, Serv Neurol, Algiers, Algeria ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceRodriguez, Diana论文数: 0 引用数: 0 h-index: 0机构: Paris Lyon Lille, Ctr Reference Malformat & Malad Congenitales Cerv, Paris, France INSERM, U1141, Paris, France Univ Paris 06, Armand Trousseau Hosp, AP HP, Dept Neuropediat, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceChantot-Bastaraud, Sandra论文数: 0 引用数: 0 h-index: 0机构: Paris Lyon Lille, Ctr Reference Malformat & Malad Congenitales Cerv, Paris, France Armand Trousseau Hosp, AP HP, Dept Genet, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceRougeot, Christelle论文数: 0 引用数: 0 h-index: 0机构: Paris Lyon Lille, Ctr Reference Malformat & Malad Congenitales Cerv, Paris, France Hosp Civils Lyon, HFME, Serv Neuropediat, Bron, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceCournelle, Marie-Anne论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Pays Aix, Serv Pediat, Aix En Provence, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceMilh, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, APHM, Serv Neurol Pediat, Marseille, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceToutain, Annick论文数: 0 引用数: 0 h-index: 0机构: CHU Tours, Hop Bretonneau, Serv Genet, Tours, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceBacq, Delphine论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceMeyer, Vincent论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceAfenjar, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Paris Lyon Lille, Ctr Reference Malformat & Malad Congenitales Cerv, Paris, France Univ Paris 06, Armand Trousseau Hosp, AP HP, Dept Neuropediat, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceDeleuze, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: ICM, Inst Cerveau & Moelle Epiniere, Paris, France CNRS, UMR 7225, Paris, France Univ Paris 06, Sorbonne Univ, UMRS 1127, Paris, France INSERM, U1127, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France Univ Paris 06, Grp Rech Clin Deficiences Intellectuelles, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceStevanin, Giovanni论文数: 0 引用数: 0 h-index: 0机构: ICM, Inst Cerveau & Moelle Epiniere, Paris, France CNRS, UMR 7225, Paris, France Univ Paris 06, Sorbonne Univ, UMRS 1127, Paris, France INSERM, U1127, Paris, France CHU Pitie Salpetriere, ICM, Ecole Prat Hautes Etud, Lab Neurogenet, Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, FranceDurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: ICM, Inst Cerveau & Moelle Epiniere, Paris, France CNRS, UMR 7225, Paris, France Univ Paris 06, Sorbonne Univ, UMRS 1127, Paris, France INSERM, U1127, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France ICM, Inst Cerveau & Moelle Epiniere, Paris, France
- [30] The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish PatientMOVEMENT DISORDERS, 2025, 40 (02) : 370 - 375Turkdogan, Dilsad论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, Turkiye Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeSmolina, Natalia论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Suna & Inan Kirac Fdn, KUTTAM, Sch Med,Neurodegenerat Res Lab, Davutpasa Cad 4, TR-34010 Istanbul, Turkiye Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeTekgul, Seyma论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Suna & Inan Kirac Fdn, KUTTAM, Sch Med,Neurodegenerat Res Lab, Davutpasa Cad 4, TR-34010 Istanbul, Turkiye Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeGuel, Tugce论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Suna & Inan Kirac Fdn, KUTTAM, Sch Med,Neurodegenerat Res Lab, Davutpasa Cad 4, TR-34010 Istanbul, Turkiye Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeYesilyurt, Ahmet论文数: 0 引用数: 0 h-index: 0机构: Acibadem Maslak Hosp, Div Med Genet, Med Genet, Istanbul, Turkiye Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Dr John T Macdonald Fdn, Dept Human Genet, Miller Sch Med, Miami, FL USA Univ Miami, John P Hussman Inst Human Genom, Miller Sch Med, Miami, FL USA Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeBrais, Bernard论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyePellerin, David论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England Univ Miami, Dr John T Macdonald Fdn, Dept Human Genet, Miller Sch Med, Miami, FL USA Univ Miami, John P Hussman Inst Human Genom, Miller Sch Med, Miami, FL USA McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, TurkiyeBasak, Ayse Nazli论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Suna & Inan Kirac Fdn, KUTTAM, Sch Med,Neurodegenerat Res Lab, Davutpasa Cad 4, TR-34010 Istanbul, Turkiye Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, Turkiye