PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability

被引:0
|
作者
Quadri, M.
Kuipers, D.
Carr, J.
Bardien, S.
Thomas, P.
Sebate, B.
Breedveld, G.
van Minkelen, R.
Brouwer, R.
van IJcken, W.
van Slegtenhorst, M.
Bonifati, V.
机构
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
1365
引用
收藏
页码:S634 / S634
页数:1
相关论文
共 50 条
  • [1] PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability
    Kuipers, Demy J. S.
    Carr, Jonathan
    Bardien, Soraya
    Thomas, Pearl
    Sebate, Boiketlo
    Breedveld, Guido J.
    van Minkelen, Rick
    Brouwer, Rutger W. W.
    van Ijcken, Wilfred F. J.
    van Slegtenhorst, Marjon A.
    Bonifati, Vincenzo
    Quadri, Marialuisa
    MOVEMENT DISORDERS, 2018, 33 (11) : 1814 - 1819
  • [2] The PTRHD1 Mutation in Intellectual Disability
    Cheraghi, Sara
    Moghbelinejad, Sahar
    Najmabadi, Hossein
    Kahrizi, Kimia
    Najafipour, Reza
    ARCHIVES OF IRANIAN MEDICINE, 2021, 24 (10) : 747 - 751
  • [3] Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism
    Al-Kasbi, Ghalia
    Al-Saegh, Abeer
    Al-Qassabi, Ahmed
    Al-Jabry, Tariq
    Zadjali, Fahad
    Al-Yahyaee, Said
    Al-Maawali, Almundher
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 (08): : 1253 - 1257
  • [4] PTRHD1 and Possibly ADORA1 Mutations Contribute to Parkinsonism With Intellectual Disability
    Tan, Ai Huey
    Chong, Chun Wie
    Song, Sze Looi
    Teh, Cindy Shuan Ju
    Yap, Ivan Kok Seng
    Loke, Mun Fai
    Tan, Yong Qi
    Yong, Hoi Sen
    Mahadeva, Sanjiv
    Lang, Anthony E.
    Lim, Shen-Yang
    MOVEMENT DISORDERS, 2018, 33 (01) : 174 - 176
  • [5] biallelic PTRHD1 frameshift variant associated with intellectual disability
    Al-Kasbi, Ghalia
    Al-Saegh, Abeer
    Al-Qassabi, Ahmed
    Al Jabry, Tariq
    Al-Zadjali, Fahad
    Al-Yahyae, Said
    Al-Maawali, Almundher
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 547 - 548
  • [6] PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism
    Khodadadi, Hamidreza
    Azcona, Luis J.
    Aghamollaii, Vajiheh
    Omrani, Mir Davood
    Garshasbi, Masoud
    Taghavi, Shaghayegh
    Tafakhori, Abbas
    Shahidi, Gholam Ali
    Jamshidi, Javad
    Darvish, Hossein
    Paisan-Ruiz, Coro
    MOVEMENT DISORDERS, 2017, 32 (02) : 287 - 291
  • [7] A novel case with biallelic pathogenetic PTRHD1 variants leading to intellectual disability
    Baysal, Ozlem
    Niermeijer, Jikke-Mien
    Pfundt, Rolph
    de Vries, Bert
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1044 - 1044
  • [8] Identification of a new frameshift deletion in the PTRHD1 gene in two affected children with juvenile-onset parkinsonism and intellectual disability
    Marchetto, Aruna
    Maier, Felicitas
    Shoukier, Moneef
    Minderer, Sabine
    Gloning, Karl-Philipp
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 169 - 169
  • [9] A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism
    Gebert, Johannes
    Brunet, Theresa
    Wagner, Matias
    Rath, Jakob
    Aull-Watschinger, Susanne
    Pataraia, Ekaterina
    Krenn, Martin
    NEUROPEDIATRICS, 2024, 55 (03) : 209 - 212
  • [10] A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
    Figueiredo, T.
    Melo, U. S.
    Pessoa, A. L. S.
    Nobrega, P. R.
    Kitajima, J. P.
    Rusch, H.
    Vaz, F.
    Lucato, L. T.
    Zatz, M.
    Kok, F.
    Santos, S.
    MOLECULAR PSYCHIATRY, 2016, 21 (08) : 1125 - 1129