Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

被引：0
|
作者：
Quadri, M.
Skorvanek, M.
Olgiati, S.
Minneboo, M.
Graafland, J.
Breedveld, G. J.
Bonte, R.
Ozgur, Z.
Schoonderwoerd, K.
Verheijen, F. W.
van Ijcken, W. F. J.
Chien, H. Fen
Barbosa, E. Reis
Chang, H. -C.
Lai, S. -C.
Yeh, T. -H.
Lu, C. -S.
Wu-Chou, Y. -H.
Kievit, A. J. A.
Han, V.
Gdovinova, Z.
Jech, R.
Hofstra, R. M. W.
Ruijter, G. J. G.
Mandemakers, W.
Bonifati, V.
机构：
来源：
MOVEMENT DISORDERS | 2016年 / 31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：
687
引用
收藏
页码：S223 / S223
页数：1
相关论文
共 50 条
  • [1] Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
    Olgiati, Simone
    Skorvanek, Matej
    Quadri, Marialuisa
    Minneboo, Michelle
    Graafland, Josja
    Breedveld, Guido J.
    Bonte, Ramon
    Ozgur, Zeliha
    van den Hout, Mirjam C. G. N.
    Schoonderwoerd, Kees
    Verheijen, Frans W.
    van IJcken, Wilfred F. J.
    Chien, Hsin Fen
    Barbosa, Egberto Reis
    Chang, Hsiu-Chen
    Lai, Szu-Chia
    Yeh, Tu-Hsueh
    Lu, Chin-Song
    Wu-Chou, Yah-Huei
    Kievit, Anneke J. A.
    Han, Vladimir
    Gdovinova, Zuzana
    Jech, Robert
    Hofstra, Robert M. W.
    Ruijter, George J. G.
    Mandemakers, Wim
    Bonifati, Vincenzo
    MOVEMENT DISORDERS, 2016, 31 (07) : 1041 - 1048
  • [2] Paroxysmal dystonia with phenotypic variability in ECHS1 mutation twin carriers
    Bonato, G.
    Nosadini, M.
    Andretta, S.
    Suppiej, A.
    Leon, A.
    Sartori, S.
    Carecchio, M.
    MOVEMENT DISORDERS, 2022, 37 : S380 - S381
  • [3] ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention
    Abhimanyu Mahajan
    Jules Constantinou
    Christos Sidiropoulos
    Journal of Neurology, 2017, 264 : 185 - 187
  • [4] ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention
    Mahajan, Abhimanyu
    Constantinou, Jules
    Sidiropoulos, Christos
    JOURNAL OF NEUROLOGY, 2017, 264 (01) : 185 - 187
  • [5] Paroxysmal Exercise-Induced Dyskinesia in Siblings due to ECHS1 Gene Mutation - First Indian Case Report
    Senthilkumar, Vajramanickam
    Sivaraj, Kiruthika
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2020, 23 (06) : 837 - +
  • [6] Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
    Illsinger, Sabine
    Korenke, G. Christoph
    Boesch, Sylvia
    Nocker, Michael
    Karall, Daniela
    Nuoffer, Jean M.
    Laugwitz, Lucia
    Mayr, Johannes A.
    Scholl-Burgi, Sabine
    Freisinger, Peter
    Kowald, Tobias
    Kolker, Stefan
    Prokisch, Holger
    Haack, Tobias B.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (11)
  • [7] Varying Phenotypic Spectrum in Paroxysmal Exercise-Induced Dystonia: A Turkish family with SLC2A1 pathogenic variant
    Gultekin, M.
    Bayramov, R.
    Simsir, G.
    Basak, A. N.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 884 - 884
  • [8] Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
    Masnada, Silvia
    Parazzini, Cecilia
    Bini, Paolo
    Barbarini, Mario
    Alberti, Luisella
    Valente, Marialuisa
    Chiapparini, Luisa
    De Silvestri, Annalisa
    Doneda, Chiara
    Iascone, Maria
    Saielli, Laura Assunta
    Cereda, Cristina
    Veggiotti, Pierangelo
    Corbetta, Carlo
    Tonduti, Davide
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020, 28 : 151 - 158
  • [9] Levodopa response in paroxysmal exercise-induced dystonia without GLUT1 deficiency
    Ziso, B.
    Larner, A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2015, 22 : 394 - 394
  • [10] Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
    Ronchi, Dario
    Monfrini, Edoardo
    Bonato, Sara
    Mancinelli, Veronica
    Cinnante, Claudia
    Salani, Sabrina
    Bordoni, Andreina
    Ciscato, Patrizia
    Fortunato, Francesco
    Villa, Marianna
    Di Fonzo, Alessio
    Corti, Stefania
    Bresolin, Nereo
    Comi, Giacomo P.
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2020, 7 (05): : 839 - 845
12345