FGF14 repeat expansions: prevalence and case series of patients with SCA27B from Slovakia

被引:0
|
作者
Ostrozovicova, M.
Necpal, J.
Pellerin, D.
Lee, H.
Shabatiuk, O.
Kulcsarova, K.
Lackova, A.
Roth, V.
Wandzel, M.
Dicaire, M. J.
Danzi, M.
Han, V.
Trckova, L.
Zuchner, S.
Rizig, M.
Houlden, H.
Bonnet, C.
Renaud, M.
Brais, B.
Skorvanek, M.
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
1321
引用
收藏
页码:S613 / S614
页数:2
相关论文
共 15 条
  • [1] FGF14 repeat expansions: prevalence and case series of patients with SCA27B from Slovakia
    Ostrozovicova, M.
    Necpal, J.
    Pellerin, D.
    Lee, H.
    Shabatiuk, O.
    Kulcsarova, K.
    Lackova, A.
    Roth, V.
    Wandzel, M.
    Dicaire, M. J.
    Danzi, M.
    Han, V.
    Trckova, L.
    Zuchner, S.
    Rizig, M.
    Houlden, H.
    Bonnet, C.
    Renaud, M.
    Brais, B.
    Skorvanek, M.
    MOVEMENT DISORDERS, 2024, 39 : S613 - S614
  • [2] Description of a Series of GAA-FGF14 Ataxia / SCA27b Patients
    Iruzubieta, P.
    Pellerin, D.
    Ruiz, J.
    Bergareche, A.
    Mondragon, E.
    Albajar, I.
    Equiza, J.
    Nunez, G.
    Arratibel, P.
    Moreno, F.
    Poza, J.
    Ruibal, M.
    Fernandez-Torron, R.
    Vinagre, A.
    Croitoru, I.
    Dicaire, M.
    Brais, B.
    Houlden, H.
    Lopez Munain, A.
    MOVEMENT DISORDERS, 2023, 38 : S325 - S326
  • [3] The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
    Kartanou, Chrisoula
    Mitrousias, Alexandros
    Pellerin, David
    Kontogeorgiou, Zoi
    Iruzubieta, Pablo
    Dicaire, Marie-Josee
    Danzi, Matt C.
    Koniari, Chrysoula
    Athanassopoulos, Konstantinos
    Panas, Marios
    Stefanis, Leonidas
    Zuchner, Stephan
    Brais, Bernard
    Houlden, Henry
    Karadima, Georgia
    Koutsis, Georgios
    CLINICAL GENETICS, 2024, 105 (04) : 446 - 452
  • [4] FGF14 Repeat Expansions: Case Series of Adult-Onset Cerebellar Ataxia Patients from Serbia
    Milovanovic, A.
    Miskovic, N. T. Dragasevic
    Borsche, M.
    Westenberger, A.
    Brueggemann, N.
    Svetel, M.
    Petrovic, I.
    Kostic, V. S.
    Lohmann, K.
    MOVEMENT DISORDERS, 2023, 38 : S311 - S311
  • [5] Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
    Miyatake, Satoko
    Doi, Hiroshi
    Yaguchi, Hiroaki
    Koshimizu, Eriko
    Kihara, Naoki
    Matsubara, Tomoyasu
    Mori, Yasuko
    Kunieda, Kenjiro
    Shimizu, Yusaku
    Toyota, Tomoko
    Shirai, Shinichi
    Matsushima, Masaaki
    Okubo, Masaki
    Wada, Taishi
    Kunii, Misako
    Johkura, Ken
    Miyamoto, Ryosuke
    Osaki, Yusuke
    Miyama, Takabumi
    Satoh, Mai
    Fujita, Atsushi
    Uchiyama, Yuri
    Tsuchida, Naomi
    Misawa, Kazuharu
    Hamanaka, Kohei
    Hamanoue, Haruka
    Mizuguchi, Takeshi
    Morino, Hiroyuki
    Izumi, Yuishin
    Shimohata, Takayoshi
    Yoshida, Kunihiro
    Adachi, Hiroaki
    Tanaka, Fumiaki
    Yabe, Ichiro
    Matsumoto, Naomichi
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2024, 95 (12): : 1187 - 1195
  • [6] Case series: Downbeat nystagmus in SCA27B
    Shirai, Shinichi
    Mizushima, Keiichi
    Fujiwara, Keishi
    Koshimizu, Eriko
    Matsushima, Masaaki
    Miyatake, Satoko
    Iwata, Ikuko
    Yaguchi, Hiroaki
    Matsumoto, Naomichi
    Yabe, Ichiro
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 454
  • [7] Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27B
    Pellerin, David
    Seemann, Jens
    Traschuetz, Andreas
    Brais, Bernard
    Ilg, Winfried
    Synofzik, Matthis
    MOVEMENT DISORDERS, 2024, 39 (10) : 1892 - 1894
  • [8] An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (vol 110, pg 105, 2023)
    Rafehi, Haloom
    Read, Justin
    Szmulewicz, David J.
    Davies, Kayli C.
    Snell, Penny
    Fearnley, Liam G.
    Scott, Liam
    Thomsen, Mirja
    Gillies, Greta
    Pope, Kate
    Bennett, Mark F.
    Munro, Jacob E.
    Ngo, Kathie J.
    Chen, Luke
    Wallis, Mathew J.
    Butler, Ernest G.
    Kumar, Kishore R.
    Wu, Kathy HC.
    Tomlinson, Susan E.
    Tisch, Stephen
    Malhotra, Abhishek
    Lee-Archer, Matthew
    Dolzhenko, Egor
    Eberle, Michael A.
    Roberts, Leslie J.
    Fogel, Brent L.
    Bruggemann, Norbert
    Lohmann, Katja
    Delatycki, Martin B.
    Bahlo, Melanie
    Lockhart, Paul J.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 110 (06) : 1018 - 1018
  • [9] RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia
    Milovanovic, Andona
    Dragasevic-Miskovic, Natasa
    Thomsen, Mirja
    Borsche, Max
    Hinrichs, Frauke
    Westenberger, Ana
    Klein, Christine
    Brueggemann, Norbert
    Brankovic, Marija
    Marjanovic, Ana
    Svetel, Marina
    Kostic, Vladimir S.
    Lohmann, Katja
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2024, 11 (06): : 626 - 633
  • [10] Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)
    Wirth, Thomas
    Clement, Guillemette
    Delvallee, Clarisse
    Bonnet, Celine
    Bogdan, Thomas
    Iosif, Andra
    Schalk, Audrey
    Chanson, Jean-Baptiste
    Pellerin, David
    Brais, Bernard
    Roth, Virginie
    Wandzel, Marion
    Fleury, Marie-Celine
    Piton, Amelie
    Calmels, Nadege
    Namer, Izzie Jacques
    Kremer, Stephane
    Tranchant, Christine
    Renaud, Mathilde
    Anheim, Mathieu
    MOVEMENT DISORDERS, 2023, 38 (10) : 1950 - 1956