GENOTYPE-PHENOTYPE CORRELATIONS OF ADULT-ONSET PLA2G6-ASSOCIATED NEURODEGENERATION

被引:0
|
作者
Lin, C. -H. [1 ]
Chu, Y. -T. [2 ]
Lin, H. -Y. [2 ]
Chen, P. -L. [3 ]
机构
[1] Natl Taiwan Univ Hosp, Taipei, Taiwan
[2] Natl Taiwan Univ Hosp, Neurol, Taipei, Taiwan
[3] Natl Taiwan Univ Hosp, Genet, Taipei, Taiwan
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
A 100
引用
收藏
页码:E29 / E29
页数:1
相关论文
共 50 条
  • [21] PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia
    Koh, Kishin
    Ichinose, Yuta
    Ishiura, Hiroyuki
    Nan, Haitian
    Mitsui, Jun
    Takahashi, Junya
    Sato, Wakiro
    Itoh, Yoshiaki
    Hoshino, Kyoko
    Tsuji, Shoji
    Takiyama, Yoshihisa
    JOURNAL OF HUMAN GENETICS, 2019, 64 (01) : 55 - 59
  • [22] Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration
    Blake, Robert B.
    Gilbert, Donald L.
    Schapiro, Mark B.
    NEUROLOGY, 2016, 87 (01) : E1 - E3
  • [23] PLA2G6-Associated Dystonia Parkinsonism
    Deepak Sachan
    Amit Yadav
    Dinesh Yadav
    Indian Pediatrics, 2021, 58 : 77 - 78
  • [24] PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
    Darling, Alejandra
    Aguilera-Albesa, Sergio
    Aisha Tello, Cristina
    Serrano, Mercedes
    Tomas, Miguel
    Camino-Leon, Rafael
    Fernandez-Ramos, Joaquin
    Jimenez-Escrig, Adriano
    Poo, Pilar
    O'Callaghan, Mar
    Ortez, Carlos
    Nascimento, Andres
    Fernandez Mesaque, Ramon Candau
    Madruga, Marcos
    Arrabal, Luisa
    Roldan, Susana
    Gomez-Martin, Hilario
    Garrido, Cristina
    Temudo, Teresa
    Jou-Munoz, Cristina
    Muchart, Jordi
    Huisman, Thierry A. G. M.
    Poretti, Andrea
    Lupo, Vincenzo
    Espinos, Carmen
    Perez-Duenas, Belen
    PARKINSONISM & RELATED DISORDERS, 2019, 61 : 179 - 186
  • [25] PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children
    Widianti, Nurani
    Hanindita, Meta Herdiana
    Widjaja, Nur Aisiyah
    Irawan, Roedi
    PAKISTAN JOURNAL OF MEDICAL SCIENCES, 2023, 39 (01)
  • [26] PLA2G6-ASSOCIATED NEURODEGENERATION IN THREE DIFFERENT POPULATIONS-CASE SERIES
    Milanowski, L.
    Al-Shaikh, R. Hanna
    Holla, V.
    Kurihara, K.
    Yadav, R.
    Kamble, N.
    Muthusamy, B.
    Koziorowski, D.
    Szlufik, S.
    Hoffman-Zacharska, D.
    Fujioka, S.
    Ross, O. A.
    Wierenga, K.
    Wszolek, Z. K.
    Pal, P. K.
    PARKINSONISM & RELATED DISORDERS, 2023, 113 : 27 - 27
  • [27] PLA2G6-Associated Dystonia Parkinsonism
    Sachan, Deepak
    Yadav, Amit
    Yadav, Dinesh
    INDIAN PEDIATRICS, 2021, 58 (01) : 77 - 78
  • [28] Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration
    Davids, Mariska
    Kane, Megan S.
    He, Miao
    Wolfe, Lynne A.
    Li, Xueli
    Raihan, Mohd A.
    Chao, Katherine R.
    Bone, William P.
    Boerkoel, Cornelius F.
    Gahl, William A.
    Toro, Camilo
    JOURNAL OF MEDICAL GENETICS, 2016, 53 (03) : 180 - 189
  • [29] PLA2G6-associated late-onset parkinsonism in a Sudanese family
    Bakhit, Yousuf
    Tesson, Christelle O.
    Ibrahim, Mohamed
    Eltom, Khalid
    Eltazi, Isra
    Elsayed, Liena E. O.
    Lesage, Suzanne
    Seidi, Osheik
    Corvol, Jean-Christophe
    Wuellner, Ullrich
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2023, 10 (06): : 983 - 989
  • [30] Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration
    Villalon-Garcia, Irene
    Alvarez-Cordoba, Monica
    Povea-Cabello, Suleva
    Talaveron-Rey, Marta
    Villanueva-Paz, Marina
    Luzon-Hidalgo, Raquel
    Suarez-Rivero, Juan M.
    Suarez-Carrillo, Alejandra
    Munuera-Cabeza, Manuel
    Salas, Joaquin J.
    Falcon-Moya, Rafael
    Rodriguez-Moreno, Antonio
    Armengol, Jose A.
    Sanchez-Alcazar, Jose A.
    NEUROBIOLOGY OF DISEASE, 2022, 165