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Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.

作者信息

Chen Zhongbo, Ryten Mina, Houlden Henry

机构信息

Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

出版信息

Ann Clin Transl Neurol. 2020 Dec;7(12):2544-2545. doi: 10.1002/acn3.51222. Epub 2020 Oct 30.

DOI:10.1002/acn3.51222
PMID:33124767
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7732245/
Abstract
摘要

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本文引用的文献

1
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.神经核内包涵体病婴儿患者 NOTCH2NLC CGG 重复未扩增,皮肤活检为阴性。
J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1065-1071. doi: 10.1093/jnen/nlaa070.
2
Neuronal intranuclear inclusion disease is genetically heterogeneous.神经核内包涵体病具有遗传异质性。
Ann Clin Transl Neurol. 2020 Sep;7(9):1716-1725. doi: 10.1002/acn3.51151. Epub 2020 Aug 10.
3
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.长读测序鉴定出 NOTCH2NLC 中的 GGC 重复扩展与神经元核内包涵体病有关。
Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22.
4
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.神经元核内包涵体病、眼咽远端肌病和重叠疾病中的非编码 CGG 重复扩展。
Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22.
5
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.所有罕见遗传疾病的诊断:现状与未来前沿。
Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.
6
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.神经元核内(透明)包涵体病与脆性X相关震颤/共济失调综合征:形态学与分子学困境
Brain. 2017 Aug 1;140(8):e51. doi: 10.1093/brain/awx156.
7
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.肌萎缩侧索硬化症的遗传检测和遗传咨询:临床医生的最新进展。
Genet Med. 2017 Mar;19(3):267-274. doi: 10.1038/gim.2016.107. Epub 2016 Aug 18.
8
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.轴突到外显子:下一代测序在罕见神经疾病的分子诊断中的应用。
Curr Neurol Neurosci Rep. 2015 Sep;15(9):64. doi: 10.1007/s11910-015-0584-7.
9
The genetics and neuropathology of amyotrophic lateral sclerosis.肌萎缩侧索硬化症的遗传学和神经病理学。
Acta Neuropathol. 2012 Sep;124(3):339-52. doi: 10.1007/s00401-012-1022-4. Epub 2012 Aug 2.
10
Neuronal intranuclear inclusion disease and juvenile parkinsonism.神经元核内包涵体病与青少年帕金森病。
Mov Disord. 2000 Sep;15(5):990-5. doi: 10.1002/1531-8257(200009)15:5<990::aid-mds1035>3.0.co;2-i.