PubMed for id: 1648480

Year	Number of Results
2021	97
2022	210
2023	179
2024	83

1

Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model.

Bataveljic D, Pivonkova H, de Concini V, Hébert B, Ezan P, Briault S, Bemelmans AP, Pichon J, Menuet A, Rouach N. Bataveljic D, et al. Nat Commun. 2024 Apr 27;15(1):3583. doi: 10.1038/s41467-024-47681-y. Nat Commun. 2024. PMID: 38678030 Free PMC article.

2

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.

Tamanna N, Pi BK, Lee AJ, Kanwal S, Choi BO, Chung KW. Tamanna N, et al. Genes (Basel). 2024 Apr 11;15(4):485. doi: 10.3390/genes15040485. Genes (Basel). 2024. PMID: 38674419 Free PMC article.

3

PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.

Proske M, Janowski R, Bacher S, Kang HS, Monecke T, Koehler T, Hutten S, Tretter J, Crois A, Molitor L, Varela-Rial A, Fino R, Donati E, De Fabritiis G, Dormann D, Sattler M, Niessing D. Proske M, et al. Elife. 2024 Apr 24;13:RP93561. doi: 10.7554/eLife.93561. Elife. 2024. PMID: 38655849 Free PMC article.

4

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

Yang Q, Zhang Q, Qin Z, Yi S, Luo J. Yang Q, et al. BMC Med Genomics. 2024 Apr 20;17(1):95. doi: 10.1186/s12920-024-01883-x. BMC Med Genomics. 2024. PMID: 38643142 Free PMC article.

5

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.

D'Incal C, Van Dijck A, Ibrahim J, De Man K, Bastini L, Konings A, Elinck E, Gozes L, Marusic Z, Anicic M, Vukovic J, Van der Aa N, Mateiu L, Vanden Berghe W, Kooy RF. D'Incal C, et al. Acta Neuropathol Commun. 2024 Apr 18;12(1):62. doi: 10.1186/s40478-024-01743-w. Acta Neuropathol Commun. 2024. PMID: 38637827 Free PMC article.

6

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Cho JH, Hwang S, Kwak YH, Yum MS, Seo GH, Koh JY, Ju YS, Yoon JH, Kang M, Do HS, Kim S, Kim GH, Bae H, Lee BH. Cho JH, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2430. doi: 10.1002/mgg3.2430. Mol Genet Genomic Med. 2024. PMID: 38581121 Free PMC article. Review.

7

Bilateral vestibulopathy as the initial presentation of CANVAS.

Gordon CR, Zaltzman R, Geisinger D, Elyoseph Z, Gimmon Y. Gordon CR, et al. J Neurol Sci. 2024 May 15;460:122990. doi: 10.1016/j.jns.2024.122990. Epub 2024 Apr 2. J Neurol Sci. 2024. PMID: 38579416

8

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.

Rao S, Sadybekov A, DeWitt DC, Lipka J, Katritch V, Herring BE. Rao S, et al. Mol Autism. 2024 Apr 3;15(1):12. doi: 10.1186/s13229-024-00590-9. Mol Autism. 2024. PMID: 38566250 Free PMC article.

9

[Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome].

Luo X, Niu H, Zhou F, Li S, Li Z, Guo Y. Luo X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):480-485. doi: 10.3760/cma.j.cn511374-20230311-00125. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38565516 Chinese.

10

[Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].

Liu M, Li D, Li Y, Mei D, Dong S, Wang Y, Hu W, Gao C. Liu M, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):437-442. doi: 10.3760/cma.j.cn511374-20230116-00028. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38565509 Chinese.

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