共 15 条
- [1] FGF14 repeat expansions: prevalence and case series of patients with SCA27B from SlovakiaMOVEMENT DISORDERS, 2024, 39 : S613 - S614Ostrozovicova, M.论文数: 0 引用数: 0 h-index: 0Necpal, J.论文数: 0 引用数: 0 h-index: 0Pellerin, D.论文数: 0 引用数: 0 h-index: 0Lee, H.论文数: 0 引用数: 0 h-index: 0Shabatiuk, O.论文数: 0 引用数: 0 h-index: 0Kulcsarova, K.论文数: 0 引用数: 0 h-index: 0Lackova, A.论文数: 0 引用数: 0 h-index: 0Roth, V.论文数: 0 引用数: 0 h-index: 0Wandzel, M.论文数: 0 引用数: 0 h-index: 0Dicaire, M. J.论文数: 0 引用数: 0 h-index: 0Danzi, M.论文数: 0 引用数: 0 h-index: 0Han, V.论文数: 0 引用数: 0 h-index: 0Trckova, L.论文数: 0 引用数: 0 h-index: 0Zuchner, S.论文数: 0 引用数: 0 h-index: 0Rizig, M.论文数: 0 引用数: 0 h-index: 0Houlden, H.论文数: 0 引用数: 0 h-index: 0Bonnet, C.论文数: 0 引用数: 0 h-index: 0Renaud, M.论文数: 0 引用数: 0 h-index: 0Brais, B.论文数: 0 引用数: 0 h-index: 0Skorvanek, M.论文数: 0 引用数: 0 h-index: 0
- [2] Description of a Series of GAA-FGF14 Ataxia / SCA27b PatientsMOVEMENT DISORDERS, 2023, 38 : S325 - S326Iruzubieta, P.论文数: 0 引用数: 0 h-index: 0Pellerin, D.论文数: 0 引用数: 0 h-index: 0Ruiz, J.论文数: 0 引用数: 0 h-index: 0Bergareche, A.论文数: 0 引用数: 0 h-index: 0Mondragon, E.论文数: 0 引用数: 0 h-index: 0Albajar, I.论文数: 0 引用数: 0 h-index: 0Equiza, J.论文数: 0 引用数: 0 h-index: 0Nunez, G.论文数: 0 引用数: 0 h-index: 0Arratibel, P.论文数: 0 引用数: 0 h-index: 0Moreno, F.论文数: 0 引用数: 0 h-index: 0Poza, J.论文数: 0 引用数: 0 h-index: 0Ruibal, M.论文数: 0 引用数: 0 h-index: 0Fernandez-Torron, R.论文数: 0 引用数: 0 h-index: 0Vinagre, A.论文数: 0 引用数: 0 h-index: 0Croitoru, I.论文数: 0 引用数: 0 h-index: 0Dicaire, M.论文数: 0 引用数: 0 h-index: 0Brais, B.论文数: 0 引用数: 0 h-index: 0Houlden, H.论文数: 0 引用数: 0 h-index: 0Lopez Munain, A.论文数: 0 引用数: 0 h-index: 0
- [3] 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
- [4] FGF14 Repeat Expansions: Case Series of Adult-Onset Cerebellar Ataxia Patients from SerbiaMOVEMENT DISORDERS, 2023, 38 : S311 - S311Milovanovic, A.论文数: 0 引用数: 0 h-index: 0Miskovic, N. T. Dragasevic论文数: 0 引用数: 0 h-index: 0Borsche, M.论文数: 0 引用数: 0 h-index: 0Westenberger, A.论文数: 0 引用数: 0 h-index: 0Brueggemann, N.论文数: 0 引用数: 0 h-index: 0Svetel, M.论文数: 0 引用数: 0 h-index: 0Petrovic, I.论文数: 0 引用数: 0 h-index: 0Kostic, V. S.论文数: 0 引用数: 0 h-index: 0Lohmann, K.论文数: 0 引用数: 0 h-index: 0
- [5] Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in JapaneseJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2024, 95 (12): : 1187 - 1195论文数: 引用数: h-index:机构:Doi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanYaguchi, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Fac Med, Dept Neurol, Sapporo 0608638, Japan Hokkaido Univ, Grad Sch Med, Sapporo, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, 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 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanKihara, Naoki论文数: 0 引用数: 0 h-index: 0机构: Tokushima Univ, Grad Sch Biomed Sci, Dept Neurol, Tokushima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanMatsubara, Tomoyasu论文数: 0 引用数: 0 h-index: 0机构: Tokushima Univ, Grad Sch Biomed Sci, Dept Neurol, Tokushima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanMori, Yasuko论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, Gifu 0608638, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan论文数: 引用数: h-index:机构:Shimizu, Yusaku论文数: 0 引用数: 0 h-index: 0机构: Ina Cent Hosp, Dept Neurol, Ina, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanToyota, Tomoko论文数: 0 引用数: 0 h-index: 0机构: Univ Occupat & Environm Hlth, Sch Med, Dept Neurol, Kitakyushu, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanShirai, Shinichi论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Fac Med, Dept Neurol, Sapporo 0608638, Japan Hokkaido Univ, Grad Sch Med, Sapporo, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanMatsushima, Masaaki论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Fac Med, Dept Neurol, Sapporo 0608638, Japan Hokkaido Univ, Grad Sch Med, Sapporo, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanOkubo, Masaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanWada, Taishi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanKunii, Misako论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanJohkura, Ken论文数: 0 引用数: 0 h-index: 0机构: Yokohama Brain & Spine Ctr, Dept Neurol, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan论文数: 引用数: h-index:机构:Osaki, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Tokushima Univ, Grad Sch Biomed Sci, Dept Neurol, Tokushima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanMiyama, Takabumi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanSatoh, Mai论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanFujita, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Misawa, Kazuharu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan RIKEN Ctr Adv Intelligence Project, Tokyo, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanHamanaka, Kohei论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan Kyoto Univ, Inst Adv Study Human Biol, Kyoto, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanHamanoue, Haruka论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Med, Dept Clin Genet, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanMizuguchi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanMorino, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Tokushima Univ, Grad Sch Biomed Sci, Dept Med Genet, Tokushima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanIzumi, Yuishin论文数: 0 引用数: 0 h-index: 0机构: Tokushima Univ, Grad Sch Biomed Sci, Dept Neurol, Tokushima, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanShimohata, Takayoshi论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Neurol, Gifu 0608638, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanYoshida, Kunihiro论文数: 0 引用数: 0 h-index: 0机构: Kakeyu Hosp, Dept Neurol, JA Nagano Koseiren, Kakeyu Misayama Rehabil Ctr, Ueda, Japan Shinshu Univ, Sch Med, Dept Brain Dis Res, Matsumoto, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanAdachi, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Univ Occupat & Environm Hlth, Sch Med, Dept Neurol, Kitakyushu, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanTanaka, Fumiaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, JapanYabe, Ichiro论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Fac Med, Dept Neurol, Sapporo 0608638, Japan Gifu Univ, Grad Sch Med, Dept Neurol, Gifu 0608638, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, 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 2360004, Japan Yokohama City Univ Med, Dept Clin Genet, Yokohama, Japan Yokohama City Univ Med, Dept Rare Dis Genom, Yokohama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama 2360004, Japan
- [6] Case series: Downbeat nystagmus in SCA27BJOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 454Shirai, Shinichi论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Neurol, Sapporo, Japan Hokkaido Univ, Dept Neurol, Sapporo, JapanMizushima, Keiichi论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Neurol, Sapporo, Japan Hokkaido Univ, Dept Neurol, Sapporo, Japan论文数: 引用数: h-index:机构:Koshimizu, 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 Hokkaido Univ, Dept Neurol, Sapporo, JapanMatsushima, Masaaki论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Neurol, Sapporo, Japan Hokkaido Univ, Dept Neurol, Sapporo, Japan论文数: 引用数: h-index:机构:Iwata, Ikuko论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Neurol, Sapporo, Japan Hokkaido Univ, Dept Neurol, Sapporo, JapanYaguchi, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Neurol, Sapporo, Japan Hokkaido Univ, Dept Neurol, Sapporo, 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 Hokkaido Univ, Dept Neurol, Sapporo, JapanYabe, Ichiro论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Neurol, Sapporo, Japan Hokkaido Univ, Fac Med, Dept Neurol, N15W7,Kita ku, Sapporo 0608638, Japan Hokkaido Univ, Grad Sch Med, N15W7,Kita ku, Sapporo 0608638, Japan Hokkaido Univ, Dept Neurol, Sapporo, Japan
- [7] Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27BMOVEMENT DISORDERS, 2024, 39 (10) : 1892 - 1894Pellerin, 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 Univ Coll London Hosp, Natl Hosp Neurol & Neurosurg, London, England UCL, Natl Hosp Neurol & Neurosurg, London, England McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, CanadaSeemann, Jens论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res, Sect Computat Sensomotr, Tubingen, Germany Ctr Integrat Neurosci CIN, Tubingen, Germany McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, CanadaTraschuetz, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Div Translat Genom Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, Hoppe Seyler Str 3, D-72076 Tubingen, Germany German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, CanadaBrais, 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 Ctr Readaptat Lucie Bruneau, Montreal, PQ, Canada McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, CanadaIlg, Winfried论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res, Sect Computat Sensomotr, Tubingen, Germany Ctr Integrat Neurosci CIN, Tubingen, Germany McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, CanadaSynofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Div Translat Genom Neurodegenerat Dis, Hoppe Seyler Str 3, D-72076 Tubingen, Germany Univ Tubingen, Ctr Neurol, Hoppe Seyler Str 3, D-72076 Tubingen, Germany German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada
- [8] An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (vol 110, pg 105, 2023)AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 110 (06) : 1018 - 1018Rafehi, Haloom论文数: 0 引用数: 0 h-index: 0Read, Justin论文数: 0 引用数: 0 h-index: 0Szmulewicz, David J.论文数: 0 引用数: 0 h-index: 0Davies, Kayli C.论文数: 0 引用数: 0 h-index: 0Snell, Penny论文数: 0 引用数: 0 h-index: 0Fearnley, Liam G.论文数: 0 引用数: 0 h-index: 0Scott, Liam论文数: 0 引用数: 0 h-index: 0Thomsen, Mirja论文数: 0 引用数: 0 h-index: 0Gillies, Greta论文数: 0 引用数: 0 h-index: 0Pope, Kate论文数: 0 引用数: 0 h-index: 0Bennett, Mark F.论文数: 0 引用数: 0 h-index: 0Munro, Jacob E.论文数: 0 引用数: 0 h-index: 0Ngo, Kathie J.论文数: 0 引用数: 0 h-index: 0Chen, Luke论文数: 0 引用数: 0 h-index: 0Wallis, Mathew J.论文数: 0 引用数: 0 h-index: 0Butler, Ernest G.论文数: 0 引用数: 0 h-index: 0Kumar, Kishore R.论文数: 0 引用数: 0 h-index: 0Wu, Kathy HC.论文数: 0 引用数: 0 h-index: 0Tomlinson, Susan E.论文数: 0 引用数: 0 h-index: 0Tisch, Stephen论文数: 0 引用数: 0 h-index: 0Malhotra, Abhishek论文数: 0 引用数: 0 h-index: 0Lee-Archer, Matthew论文数: 0 引用数: 0 h-index: 0Dolzhenko, Egor论文数: 0 引用数: 0 h-index: 0Eberle, Michael A.论文数: 0 引用数: 0 h-index: 0Roberts, Leslie J.论文数: 0 引用数: 0 h-index: 0Fogel, Brent L.论文数: 0 引用数: 0 h-index: 0Bruggemann, Norbert论文数: 0 引用数: 0 h-index: 0Lohmann, Katja论文数: 0 引用数: 0 h-index: 0Delatycki, Martin B.论文数: 0 引用数: 0 h-index: 0Bahlo, Melanie论文数: 0 引用数: 0 h-index: 0Lockhart, Paul J.论文数: 0 引用数: 0 h-index: 0
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