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A novel mutation causes intellectual disability with autistic and aggressive behaviors.

作者信息

Darvish Hossein, Azcona Luis J, Alehabib Elham, Jamali Faezeh, Tafakhori Abbas, Ranji-Burachaloo Sakineh, Jen Joanna C, Paisán-Ruiz Coro

机构信息

Cancer Research Center (H.D.), Semnan University of Medical Sciences; Department of Medical Genetics (H.D., E.A., F.J.), School of Medicine, Semnan University of Medical Sciences, Iran; Department of Neurosciences (L.J.A.) and Department of Neurology (L.J.A., J.C.J., C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York; Iranian Center of Neurological Research (A.T.), Neuroscience Institute, Tehran University of Medical Sciences, Iran; Department of Otolaryngology (J.C.J.), Department of Neurosurgery (J.C.J.), Department of Psychiatry (C.P.-R.), Department of Genetics and Genomic Sciences (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; Mindich Child Health and Development Institute (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; and Friedman Brain Institute (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York.

出版信息

Neurol Genet. 2019 Sep 4;5(5):e356. doi: 10.1212/NXG.0000000000000356. eCollection 2019 Oct.

DOI:10.1212/NXG.0000000000000356
PMID:31583274
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6745718/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c688/6745718/e3e530df209e/NG2019010488f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c688/6745718/e3e530df209e/NG2019010488f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c688/6745718/e3e530df209e/NG2019010488f1.jpg

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本文引用的文献

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Am J Hum Genet. 2018 Dec 6;103(6):1045-1052. doi: 10.1016/j.ajhg.2018.10.026.
2
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.常染色体隐性遗传帕金森病 50 个家系的临床和分子遗传学研究揭示了已知和新的基因突变。
Mol Neurobiol. 2018 Apr;55(4):3477-3489. doi: 10.1007/s12035-017-0535-1. Epub 2017 May 13.
3
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
衰老诱导的假尿嘧啶核苷合成酶 10 损害造血干细胞。
Haematologica. 2023 Oct 1;108(10):2677-2689. doi: 10.3324/haematol.2022.282211.
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Coordination of RNA modifications in the brain and beyond.大脑及其他部位RNA修饰的协调。
Mol Psychiatry. 2023 Jul;28(7):2737-2749. doi: 10.1038/s41380-023-02083-2. Epub 2023 May 3.
5
The role of post-transcriptional modifications during development.发育过程中转录后修饰的作用。
Biol Futur. 2023 Jun;74(1-2):45-59. doi: 10.1007/s42977-022-00142-3. Epub 2022 Dec 8.
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Epitranscriptomic dynamics in brain development and disease.脑发育和疾病中的转录后组动态。
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The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.SYNJ1 的 Sac1 结构域在一个家族性早发性进行性帕金森病伴全身发作的患者中发生突变。
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