FGF14 Repeat Expansions: Case Series of Adult-Onset Cerebellar Ataxia Patients from Serbia

被引：0
|
作者：
Milovanovic, A.
Miskovic, N. T. Dragasevic
Borsche, M.
Westenberger, A.
Brueggemann, N.
Svetel, M.
Petrovic, I.
Kostic, V. S.
Lohmann, K.
机构：
来源：
MOVEMENT DISORDERS | 2023年 / 38卷
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：
697
引用
收藏
页码：S311 / S311
页数：1
相关论文
共 50 条
  • [1] 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
  • [2] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
    Zeng, Yi-Heng
    Gan, Shi-Rui
    Chen, Wan-Jin
    NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (21):
  • [3] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
    Pellerin, D.
    Danzi, M. C.
    Wilke, C.
    Renaud, M.
    Fazal, S.
    Dicaire, M. -J
    Scriba, C. K.
    Ashton, C.
    Yanick, C.
    Beijer, D.
    Rebelo, A.
    Rocca, C.
    Jaunmuktane, Z.
    Sonnen, J. A.
    Lariviere, R.
    Genis, D.
    Porcel, L. Molina
    Choquet, K.
    Sakalla, R.
    Provost, S.
    Robertson, R.
    Allard-Chamard, X.
    Tetreault, M.
    Reiling, S. J.
    Nagy, S.
    Nishadham, V
    Purushottam, M.
    Vengalil, S.
    Bardhan, M.
    Nalini, A.
    Chen, Z.
    Mathieu, J.
    Massie, R.
    Chalk, C. H.
    Lafontaine, A. -L
    Evoy, F.
    Rioux, M. -F
    Ragoussis, J.
    Boycott, K. M.
    Dube, M. -P
    Duquette, A.
    Houlden, H.
    Ravenscroft, G.
    Laing, N. G.
    Lamont, P. J.
    Saporta, M. A.
    Schuele, R.
    Schoels, L.
    La Piana, R.
    Synofzik, M.
    NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (02): : 128 - 141
  • [4] 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
  • [5] 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
  • [6] A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
    Pellerin, David
    Danzi, Matt
    Wilke, Carlo
    Renaud, Mathilde
    Fazal, Sarah
    Dicaire, Marie-Josee
    Scribah, Carolin
    Ashton, Catherine
    Genis, David
    Porcel, Laura Molina
    Nagy, Sara
    Nalini, Atchayaram
    Boycott, Kym
    Duquette, Antoine
    Houlden, Henry
    Ravenscroft, Gianina
    Laing, Nigel
    Lamont, Phillipa
    Schoels, Ludger
    La Piana, Roberta
    Synofzik, Matthis
    Zuchner, Stephan
    Brais, Bernard
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [7] Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
    Mereaux, Jean-Loup
    Davoine, Claire-Sophie
    Pellerin, David
    Coarelli, Giulia
    Coutelier, Marie
    Ewenczyk, Claire
    Monin, Marie -Lorraine
    Anheim, Mathieu
    Le Ber, Isabelle
    Thobois, Stephane
    Gobert, Florent
    Guillot-Noel, Lena
    Forlani, Sylvie
    Jornea, Ludmila
    Heinzmann, Anna
    Sangare, Aude
    Gaymard, Bertrand
    Guyant-Marechal, Lucie
    Charles, Perrine
    Marelli, Cecilia
    Honnorat, Jerome
    Degos, Bertrand
    Tison, Francois
    Sangla, Sophie
    Simonetta-Moreau, Marion
    Salachas, Francois
    Tchikviladze, Maya
    Castelnovo, Giovanni
    Mochel, Fanny
    Klebe, Stephan
    Castrioto, Anna
    Fenu, Silvia
    Meneret, Aurelie
    Bourdain, Frederic
    Wandzel, Marion
    Roth, Virginie
    Bonnet, Celine
    Riant, Florence
    Stevanin, Giovanni
    Noel, Sandrine
    Fauret-Amsellem, Anne-Laure
    Bahlo, Melanie
    Lockhart, Paul J.
    Brais, Bernard
    Renaud, Mathilde
    Brice, Alexis
    Durra, Alexandra
    EBIOMEDICINE, 2024, 99
  • [8] An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
    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 H. C.
    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 (01) : 105 - 119
  • [9] Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
    Novis, Luiz Eduardo
    Frezatti, Rodrigo S.
    Pellerin, David
    Tomaselli, Pedro J.
    Alavi, Shahryar
    Della Coleta, Marcus Vinicius
    Spitz, Mariana
    Dicaire, Marie-Josee
    Iruzubieta, Pablo
    Pedroso, Jose Luiz
    Barsottini, Orlando
    Cortese, Andrea
    Danzi, Matt C.
    Franca Jr, Marcondes C.
    Brais, Bernard
    Zuchner, Stephan
    Houlden, Henry
    Raskin, Salmo
    Marques, Wilson
    Teive, Helio A.
    NEUROLOGY-GENETICS, 2023, 9 (05)
  • [10] FREQUENCY OF GAA-FGF14 ATAXIA IN A LARGE COHORT OF BRAZILIAN PATIENTS WITH UNSOLVED ADULT-ONSET CEREBELLAR ATAXIA
    Novis, L. E.
    Frezatti, R.
    Pellerin, D.
    Tomasseli, P.
    Alavi, S.
    Della Coletta, M. V.
    Spitz, M.
    Dicaire, M. -J.
    Iruzubieta, P.
    Pedroso, J. L.
    Barsotini, O.
    Danzi, M.
    Franca, M., Jr.
    Brais, B.
    Zuchner, S.
    Houlden, H.
    Raskin, S.
    Marques, W., Jr.
    Teive, H.
    PARKINSONISM & RELATED DISORDERS, 2024, 122
12345