Neurodevelopmental disorder and parkinsonism in a patient with WDR45 variant: a long-term outcome

被引:0
|
作者
Manti, F. [1 ]
Nardecchia, F. [1 ]
Galosi, S. [1 ]
Panteghini, C. [1 ]
Garavaglia, B. [1 ]
Leuzzi, V. [1 ]
机构
[1] Sapienza Univ Rome, Rome, Italy
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
492
引用
收藏
页码:S207 / S207
页数:1
相关论文
共 50 条
  • [1] Neurodevelopmental Disorder and Late-Onset Degenerative Parkinsonism in a Patient with a WDR45 Defect
    Manti, Filippo
    Panteghini, Celeste
    Garavaglia, Barbara
    Leuzzi, Vincenzo
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2022, 9 (01): : 110 - 112
  • [2] A unique case of neurodevelopmental disorders and epilepsy linked to WDR45 variant inheritance and maternal mosaicism
    Mou, Can
    Zhou, Lan
    Xiong, Jiao Jiao
    Lei, Ling
    GENE, 2025, 936
  • [3] WDR45, one gene associated with multiple neurodevelopmental disorders
    Cong, Yingying
    So, Vincent
    Tijssen, Marina A. J.
    Verbeek, Dineke S.
    Reggiori, Fulvio
    Mauthe, Mario
    AUTOPHAGY, 2021, 17 (12) : 3908 - 3923
  • [4] Autistic Parkinsonism: NBIA with Mosaic WDR45 Mutation and DaTscan positive dopa-Responsiveness
    Zhang, Lin
    Malhado-Chang, Norika
    Shankar, Suma
    Hagerman, Randi
    NEUROLOGY, 2019, 92 (15)
  • [5] Long-term neurodevelopmental outcome of triplets
    Skrablin, Snjezana
    Kuvacic, Ivan
    Simunic, Velimir
    Bosnjak-Nadj, Katarina
    Kalafatic, Drzislav
    Banovic, Vladimir
    EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2007, 132 (01) : 76 - 82
  • [6] Severe scoliosis in the patient with a novel variant p. Pro237ArgfsTer7 in the WDR45 gene
    Maric, N.
    Luna, J.
    Codina, M.
    Armengol, L.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 453 - 454
  • [7] A NOVEL WDR45 MUTATION IN A PATIENT WITH β-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION
    Wynn, DonRaphael P.
    Pulst, Stefan M.
    NEUROLOGY-GENETICS, 2017, 3 (01)
  • [8] Long-term neurodevelopmental outcome of asphyxiated newborns
    Simon, NP
    CLINICS IN PERINATOLOGY, 1999, 26 (03) : 767 - +
  • [9] A Novel WDR45 Mutation in a Patient With Static Encephalopathy of Childhood With Neurodegeneration in Adulthood (SENDA)
    Ozawa, Tadashi
    Koide, Reiji
    Nakata, Yasuhiro
    Saitsu, Hirotomo
    Matsumoto, Naomichi
    Takahashi, Kazushi
    Nakano, Imaharu
    Orimo, Satoshi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (09) : 2388 - 2390
  • [10] LONG-TERM NEURODEVELOPMENTAL OUTCOME FOLLOWING BRONCHOPULMONARY DYSPLASIA
    LUCHI, JM
    BENNETT, FC
    JACKSON, C
    CLINICAL RESEARCH, 1989, 37 (01): : A172 - A172