Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

被引：0
|
作者：
En-Lin Dong
Chong Wang
Shuang Wu
Ying-Qian Lu
Xiao-Hong Lin
Hui-Zhen Su
Miao Zhao
Jin He
Li-Xiang Ma
Ning Wang
Wan-Jin Chen
Xiang Lin
机构：
[1] The First Affiliated Hospital of Fujian Medical University,Department of Neurology and Institute of Neurology
[2] Fudan University,Department of Anatomy, Histology and Embryology, Shanghai Medical College
[3] Fujian Medical University,Fujian Key Laboratory of Molecular Neurology
来源：
Molecular Neurodegeneration | / 13卷
关键词：
Hereditary spastic paraplegias; Clinical features; Mutational spectrum; Heterogeneity; Founder effect; Mitochondria; Autolysosomes;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
下载
收藏
相关论文
共 50 条
  • [21] Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
    Soderblom, C
    Blackstone, C
    PHARMACOLOGY & THERAPEUTICS, 2006, 109 (1-2) : 42 - 56
  • [22] Lipids in the Physiopathology of Hereditary Spastic Paraplegias
    Darios, Frederic
    Mochel, Fanny
    Stevanin, Giovanni
    FRONTIERS IN NEUROSCIENCE, 2020, 14
  • [23] Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia
    Cao, Yuwen
    Zheng, Haoran
    Zhu, Zeyu
    Yao, Li
    Tian, Wotu
    Cao, Li
    MOVEMENT DISORDERS, 2024, 39 (04) : 651 - 662
  • [24] Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children
    Wang, Jiaping
    Fang, Fang
    Ding, Changhong
    Li, Jiuwei
    Wu, Yun
    Zhang, Weihua
    Bao, Xinhua
    Lv, Junlan
    Wang, Xiaohui
    Ren, Xiaotun
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2023, 65 (03): : 416 - 423
  • [25] Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias
    Jacinto-Scudeiro, Lais Alves
    Machado, Gustavo Dariva
    Ayres, Annelise
    Burguez, Daniela
    Polese-Bonatto, Marcia
    Gonzalez-Salazar, Carelis
    Siebert, Marina
    Franca Junior, Marcondes Cavalcante
    Olchik, Maira Rozenfeld
    Morales Saute, Jonas Alex
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2019, 77 (12) : 843 - 847
  • [26] Hereditary spastic paraplegias in Italian families: Clinical and molecular investigations.
    Patrono, C
    Cricchi, F
    Fortini, D
    Tessa, A
    Tozzi, G
    Piemonte, F
    Carrozzo, R
    Bertini, E
    Comanducci, G
    Casall, C
    Santorelli, FM
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 375 - 375
  • [27] Clinical, morphological, and molecular investigations in Italian families with Hereditary Spastic Paraplegias
    Casali, C
    Bertini, E
    Carrozzo, R
    Fortini, D
    Piemonte, F
    Siciliano, G
    Di Capua, M
    Bruno, C
    Comanducci, G
    Amabile, GA
    Morocutti, C
    Santorelli, FM
    NEUROLOGY, 2000, 54 (07) : A425 - A425
  • [28] Molecular Complexity of Spastic Ataxias and Hereditary Spastic Paraplegias in Turkey
    Simsir, G.
    Tekgul, S.
    Apaydin, H.
    Ertan, S.
    Basak, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 893 - 894
  • [29] Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options
    Martinuzzi, Andrea
    Blackstone, Craig
    O'Kane, Cahir J.
    Stevanin, Giovanni
    FRONTIERS IN NEUROSCIENCE, 2021, 15
  • [30] Progression of Functional Gait in Hereditary Spastic Paraplegias
    Diana Maria Cubillos-Arcila
    Gustavo Dariva Machado
    Lauren Sehnem
    Daniela Burguêz
    Ana Paula Janner Zanardi
    Valéria Feijó Martins
    Leonardo Alexandre Peyré-Tartaruga
    Jonas Alex Morales Saute
    The Cerebellum, 2022, 21 : 350 - 357
12345