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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1978 1
1979 2
1980 3
1981 1
1982 1
1984 2
1985 4
1986 3
1987 1
1990 3
1991 2
1992 1
1994 2
1996 1
1997 3
1998 17
1999 16
2000 15
2001 13
2002 22
2003 17
2004 19
2005 22
2006 24
2007 23
2008 26
2009 14
2010 21
2011 22
2012 17
2013 17
2014 19
2015 13
2016 13
2017 21
2018 16
2019 29
2020 44
2021 43
2022 50
2023 36
2024 15

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563 results

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Page 1
TDP-43 Pathology in Alzheimer's Disease.
Meneses A, Koga S, O'Leary J, Dickson DW, Bu G, Zhao N. Meneses A, et al. Mol Neurodegener. 2021 Dec 20;16(1):84. doi: 10.1186/s13024-021-00503-x. Mol Neurodegener. 2021. PMID: 34930382 Free PMC article. Review.
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and thus, the regulation of gene expression. Cytoplasmic inclusion bodies containin …
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein encoded by the TARDBP gene that is involved in …
Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.
Tian Y, Zhou L, Gao J, Jiao B, Zhang S, Xiao Q, Xue J, Wang Y, Liang H, Liu Y, Ji G, Mao C, Liu C, Dong L, Zhang L, Zhang S, Yi J, Zhao G, Luo Y, Sun Q, Zhou Y, Yi F, Chen X, Zhou C, Xie N, Luo M, Yao L, Hu Y, Zhang M, Zeng Q, Fang L, Long HY, Xie Y, Weng L, Chen S, Du J, Xu Q, Feng L, Huang Q, Hou X, Wang J, Xie B, Zhou L, Long L, Guo JF, Wang J, Yan X, Jiang H, Xu H, Duan R, Tang B, Shen L. Tian Y, et al. J Neurol Neurosurg Psychiatry. 2022 Dec;93(12):1289-1298. doi: 10.1136/jnnp-2022-329772. Epub 2022 Sep 23. J Neurol Neurosurg Psychiatry. 2022. PMID: 36150844 Free PMC article.
BACKGROUND: Abnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise the cli …
BACKGROUND: Abnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as the genetic mechanism for most Asian patients …
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G. Sone J, et al. Brain. 2016 Dec;139(Pt 12):3170-3186. doi: 10.1093/brain/aww249. Epub 2016 Oct 25. Brain. 2016. PMID: 27797808 Free PMC article.
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. ...We analysed …
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosin …
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion m …
Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion diseas …
CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.
Yu J, Liufu T, Zheng Y, Xu J, Meng L, Zhang W, Yuan Y, Hong D, Charlet-Berguerand N, Wang Z, Deng J. Yu J, et al. Proc Natl Acad Sci U S A. 2022 Oct 11;119(41):e2208649119. doi: 10.1073/pnas.2208649119. Epub 2022 Oct 3. Proc Natl Acad Sci U S A. 2022. PMID: 36191230 Free PMC article.
Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative disease caused by the expansion of CGG repeats in the 5' untranslated region (UTR) of the NOTCH2NLC gene. ...Immunofluorescence and immunoelectron microscopy showed colocaliza …
Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative disease caused by the expansion of …
Current advances in neuronal intranuclear inclusion disease.
Bao L, Zuo D, Li Q, Chen H, Cui G. Bao L, et al. Neurol Sci. 2023 Jun;44(6):1881-1889. doi: 10.1007/s10072-023-06677-0. Epub 2023 Feb 16. Neurol Sci. 2023. PMID: 36795299 Review.
Neuronal intranuclear inclusion disease (NIID) is a rare but probably underdiagnosed neurodegenerative disorder due to pathogenic GGC expansions in the NOTCH2NLC gene. ...Moreover, continuous reports of NOTCH2NLC GGC expansions in patients with other …
Neuronal intranuclear inclusion disease (NIID) is a rare but probably underdiagnosed neurodegenerative disorder due to …
Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease.
Liu Q, Zhang K, Kang Y, Li Y, Deng P, Li Y, Tian Y, Sun Q, Tang Y, Xu K, Zhou Y, Wang JL, Guo J, Li JD, Xia K, Meng Q, Allen EG, Wen Z, Li Z, Jiang H, Shen L, Duan R, Yao B, Tang B, Jin P, Pan Y. Liu Q, et al. Sci Adv. 2022 Nov 25;8(47):eadd6391. doi: 10.1126/sciadv.add6391. Epub 2022 Nov 23. Sci Adv. 2022. PMID: 36417528 Free PMC article.
GGC repeat expansions within NOTCH2NLC have been identified as the genetic cause of neuronal intranuclear inclusion disease (NIID). To understand the molecular pathogenesis of NIID, here, we established both a transgenic mouse model and a human neural progeni …
GGC repeat expansions within NOTCH2NLC have been identified as the genetic cause of neuronal intranuclear inclusion disease (N …
Skin biopsy and neuronal intranuclear inclusion disease.
Ren X, Tan D, Deng J, Wang Z, Hong D. Ren X, et al. J Dermatol. 2023 Nov;50(11):1367-1372. doi: 10.1111/1346-8138.16966. Epub 2023 Sep 18. J Dermatol. 2023. PMID: 37718652 Review.
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with variable clinical phenotypes. ...In this review, we systematically discuss the role of skin biopsy for NIID diagnosis, the procedure of skin biopsy, and the pathophysiolog …
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with variable clinical phenotypes. . …
The polyG diseases: a new disease entity.
Liufu T, Zheng Y, Yu J, Yuan Y, Wang Z, Deng J, Hong D. Liufu T, et al. Acta Neuropathol Commun. 2022 May 31;10(1):79. doi: 10.1186/s40478-022-01383-y. Acta Neuropathol Commun. 2022. PMID: 35642014 Free PMC article. Review.
Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the 5' untranslated region has been found in neuronal intranuclear inclusion disease (NIID), oc …
Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnorm …
Neuronal intranuclear inclusion disease: recognition and update.
Lu X, Hong D. Lu X, et al. J Neural Transm (Vienna). 2021 Mar;128(3):295-303. doi: 10.1007/s00702-021-02313-3. Epub 2021 Feb 18. J Neural Transm (Vienna). 2021. PMID: 33599827 Review.
Neuronal intranuclear inclusion disease (NIID) used to be considered as a neurodegenerative disease. ...Originally, it is named after the pathological characteristics with extensive intranuclear eosinophilic inclusions in central and peripheral nervous …
Neuronal intranuclear inclusion disease (NIID) used to be considered as a neurodegenerative disease. ...Originally, it …
563 results