Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?
作者信息
Sikora Jakub, Jedlickova Ivana, Pristoupilova Anna, Stranecky Viktor, Honzik Tomas
机构信息
Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
出版信息
Ann Clin Transl Neurol. 2021 Apr;8(4):994-1001. doi: 10.1002/acn3.51332. Epub 2021 Mar 29.
Abstract
摘要
相似文献
1
Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?神经元核内包涵体病的遗传异质性：婴儿型变异型情况如何？
Ann Clin Transl Neurol. 2021 Apr;8(4):994-1001. doi: 10.1002/acn3.51332. Epub 2021 Mar 29.
2
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?回复：神经元核内包涵体病的遗传异质性。婴儿型变体情况如何？
Ann Clin Transl Neurol. 2021 Apr;8(4):1002-1004. doi: 10.1002/acn3.51330. Epub 2021 Mar 29.
3
Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.回复：没有证据支持神经元核内包涵体病的基因异质性。
Ann Clin Transl Neurol. 2020 Dec;7(12):2544-2545. doi: 10.1002/acn3.51222. Epub 2020 Oct 30.
4
No evidence supports the genetic heterogeneity of Neuronal intranuclear inclusion disease.没有证据支持神经元核内包涵体病的遗传异质性。
Ann Clin Transl Neurol. 2020 Dec;7(12):2542-2543. doi: 10.1002/acn3.51223. Epub 2020 Oct 30.
5
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.
6
Abnormalities of the nucleus and nuclear inclusions in neurodegenerative disease: a work in progress.神经退行性疾病中细胞核及核内包涵体的异常：一项正在进行的研究。
Neuropathol Appl Neurobiol. 2007 Feb;33(1):2-42. doi: 10.1111/j.1365-2990.2006.00819.x.
7
Recent progress in neuronal intranuclear inclusion disease: a review of the literature.神经元核内包涵体病的研究进展：文献复习。
Neurol Sci. 2020 May;41(5):1019-1025. doi: 10.1007/s10072-019-04195-6. Epub 2020 Jan 2.
8
Reader response: Neuronal intranuclear inclusion disease showing intranuclear inclusions in renal biopsy 12 years earlier.读者反馈：12年前肾活检显示核内包涵体的神经元核内包涵体病。
Neurology. 2019 Aug 27;93(9):412-413. doi: 10.1212/WNL.0000000000008017.
9
Author response: Neuronal intranuclear inclusion disease showing intranuclear inclusions in renal biopsy 12 years earlier.作者回复：12年前肾活检显示核内包涵体的神经元核内包涵体病。
Neurology. 2019 Aug 27;93(9):413-414. doi: 10.1212/WNL.0000000000008019.
10
Reader response: Neuronal intranuclear inclusion disease showing intranuclear inclusions in renal biopsy 12 years earlier.读者反馈：12年前肾活检显示核内包涵体的神经元核内包涵体病。
Neurology. 2019 Aug 27;93(9):414. doi: 10.1212/WNL.0000000000008020.
引用本文的文献
1
Clinical and neuroimaging review of triplet repeat diseases.三重重复疾病的临床和神经影像学综述。
Jpn J Radiol. 2023 Feb;41(2):115-130. doi: 10.1007/s11604-022-01343-5. Epub 2022 Sep 28.
2
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?回复：神经元核内包涵体病的遗传异质性。婴儿型变体情况如何？
Ann Clin Transl Neurol. 2021 Apr;8(4):1002-1004. doi: 10.1002/acn3.51330. Epub 2021 Mar 29.
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 identified repeat expansions in the 5'UTR of the gene from Chinese patients with neuronal intranuclear inclusion disease.长读测序鉴定了中国神经元核内包涵体病患者基因 5'UTR 中的重复扩展。
J Med Genet. 2019 Nov;56(11):758-764. doi: 10.1136/jmedgenet-2019-106268. Epub 2019 Aug 14.
4
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.
5
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.
6
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.神经元核内包涵体病相关疾病中人类特异性 GGC 重复扩展。
Am J Hum Genet. 2019 Jul 3;105(1):166-176. doi: 10.1016/j.ajhg.2019.05.013. Epub 2019 Jun 6.
7
A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy.一例生前皮肤活检阴性的青少年起病的神经元核内包涵体病病例。
Pediatr Dev Pathol. 2018 Sep-Oct;21(5):494-496. doi: 10.1177/1093526617724293. Epub 2017 Aug 30.
8
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.成人起病的神经元核内包涵体病的临床病理特征
Brain. 2016 Dec;139(Pt 12):3170-3186. doi: 10.1093/brain/aww249. Epub 2016 Oct 25.
9
Neuronal intranuclear hyaline inclusion disease with rapidly progressive neurological symptoms.伴有快速进展性神经症状的神经元核内透明包涵体病。
J Child Neurol. 2007 Jan;22(1):60-6. doi: 10.1177/0883073807299952.
10
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child.一名儿童患无多聚谷氨酰胺包涵体的神经元核内包涵体病。
J Neuropathol Exp Neurol. 2005 Jun;64(6):545-52. doi: 10.1093/jnen/64.6.545.
Zotero 插件