PubMed for Bookshelf ID: 5592526

Year	Number of Results
2010	1
2011	1
2012	1
2013	2
2014	2
2015	5
2016	5
2017	7
2018	3
2020	4
2021	5
2022	7
2023	2
2024	0

1

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.

Chung CT, Lee NC, Fan SP, Hung MZ, Lin YH, Chen CH, Jao T. Chung CT, et al. Epilepsy Behav Rep. 2022 Dec 28;21:100580. doi: 10.1016/j.ebr.2022.100580. eCollection 2023. Epilepsy Behav Rep. 2022. PMID: 36636459 Free PMC article.

2

DYNC1H1-related epilepsy: Genotype-phenotype correlation.

Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y. Liu W, et al. Dev Med Child Neurol. 2023 Apr;65(4):534-543. doi: 10.1111/dmcn.15414. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175372 Free article.

3

Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations.

Li JT, Dong SQ, Zhu DQ, Yang WB, Qian T, Liu XN, Chen XJ. Li JT, et al. Front Neurol. 2022 Jul 11;13:943324. doi: 10.3389/fneur.2022.943324. eCollection 2022. Front Neurol. 2022. PMID: 35899263 Free PMC article.

4

DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems.

Fernández Perrone AL, Moreno Fernández P, Álvarez S, Fernández-Jaén A. Fernández Perrone AL, et al. Neurologia (Engl Ed). 2022 Jun;37(5):406-409. doi: 10.1016/j.nrleng.2021.08.001. Epub 2022 May 21. Neurologia (Engl Ed). 2022. PMID: 35606327 Free article. No abstract available.

5

Neurological update: hereditary neuropathies.

Kramarz C, Rossor AM. Kramarz C, et al. J Neurol. 2022 Sep;269(9):5187-5191. doi: 10.1007/s00415-022-11164-1. Epub 2022 May 21. J Neurol. 2022. PMID: 35596796 Free PMC article. Review.

6

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.

Su T, Yan Y, Hu Q, Liu Y, Xu S. Su T, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1874. doi: 10.1002/mgg3.1874. Epub 2022 Jan 31. Mol Genet Genomic Med. 2022. PMID: 35099838 Free PMC article.

7

Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.

Ji C, Wu D, Wang K. Ji C, et al. Neurol Sci. 2022 Apr;43(4):2853-2858. doi: 10.1007/s10072-021-05824-9. Epub 2022 Jan 28. Neurol Sci. 2022. PMID: 35088241 Review.

8

De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms.

Yang H, Gong P, Jiao X, Niu Y, Zhou Q, Zhang Y, Yang Z. Yang H, et al. Front Neurol. 2021 Nov 5;12:733178. doi: 10.3389/fneur.2021.733178. eCollection 2021. Front Neurol. 2021. PMID: 34803881 Free PMC article.

9

DYNC1H1 regulates NSCLC cell growth and metastasis by IFN-γ-JAK-STAT signaling and is associated with an aberrant immune response.

Pan H, Chai W, Liu X, Yu T, Sun L, Yan M. Pan H, et al. Exp Cell Res. 2021 Dec 1;409(1):112897. doi: 10.1016/j.yexcr.2021.112897. Epub 2021 Oct 27. Exp Cell Res. 2021. PMID: 34717919 Free article.

10

Two cases of DYNC1H1 mutations with intractable epilepsy.

Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T. Matsumoto A, et al. Brain Dev. 2021 Sep;43(8):857-862. doi: 10.1016/j.braindev.2021.05.005. Epub 2021 Jun 3. Brain Dev. 2021. PMID: 34092403

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

39 results

Results by year