PubMed for id: 322999

Year	Number of Results
1983	1
1991	1
1992	1
1994	1
1995	1
1997	1
1998	2
1999	1
2000	1
2001	1
2002	2
2003	3
2004	4
2005	5
2006	2
2007	5
2008	6
2009	4
2010	5
2011	7
2012	13
2013	7
2014	11
2015	11
2016	11
2017	14
2018	19
2019	15
2020	15
2021	18
2022	13
2023	16
2024	9

1

[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].

Shen Y, Yan K, Dong M, Yang R, Huang X. Shen Y, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25;49(5):574-580. doi: 10.3785/j.issn.1008-9292.2020.10.04. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020. PMID: 33210482 Free PMC article. Chinese.

2

Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.

Molina-Berenguer M, Vila-Julià F, Pérez-Ramos S, Salcedo-Allende MT, Cámara Y, Torres-Torronteras J, Martí R. Molina-Berenguer M, et al. FASEB J. 2022 Jan;36(1):e22091. doi: 10.1096/fj.202100819RRR. FASEB J. 2022. PMID: 34919756

3

Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.

Zhang X, Xiang F, Li D, Yang F, Yu S, Wang X. Zhang X, et al. BMC Neurol. 2024 Jan 2;24(1):15. doi: 10.1186/s12883-023-03480-4. BMC Neurol. 2024. PMID: 38166857 Free PMC article. Review.

4

SHIP inhibition mediates select TREM2-induced microglial functions.

Ramakrishnan GS, Berry WL, Pacherille A, Kerr WG, Chisholm JD, Pedicone C, Humphrey MB. Ramakrishnan GS, et al. Mol Immunol. 2024 Jun;170:35-45. doi: 10.1016/j.molimm.2024.04.002. Epub 2024 Apr 12. Mol Immunol. 2024. PMID: 38613944 Free article.

5

A partial Drp1 knockout improves autophagy flux independent of mitochondrial function.

Fan RZ, Sportelli C, Lai Y, Salehe SS, Pinnell JR, Brown HJ, Richardson JR, Luo S, Tieu K. Fan RZ, et al. Mol Neurodegener. 2024 Mar 19;19(1):26. doi: 10.1186/s13024-024-00708-w. Mol Neurodegener. 2024. PMID: 38504290 Free PMC article.

6

Chronological change of left ventricular global longitudinal strain in patients with maternally inherited diabetes and deafness: A case series.

Seo JS. Seo JS. Medicine (Baltimore). 2024 Mar 8;103(10):e37447. doi: 10.1097/MD.0000000000037447. Medicine (Baltimore). 2024. PMID: 38457558 Free PMC article.

7

Consequences of Amyloid-β Deficiency for the Liver.

Buniatian GH, Schwinghammer U, Tremmel R, Cynis H, Weiss TS, Weiskirchen R, Lauschke VM, Youhanna S, Ramos I, Valcarcel M, Seferyan T, Rahfeld JU, Rieckmann V, Klein K, Buadze M, Weber V, Kolak V, Gebhardt R, Friedman SL, Müller UC, Schwab M, Danielyan L. Buniatian GH, et al. Adv Sci (Weinh). 2024 May;11(18):e2307734. doi: 10.1002/advs.202307734. Epub 2024 Mar 2. Adv Sci (Weinh). 2024. PMID: 38430535 Free PMC article.

8

The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.

Affortit C, Coyat C, Saidia AR, Ceccato JC, Charif M, Sarzi E, Flamant F, Guyot R, Cazevieille C, Puel JL, Lenaers G, Wang J. Affortit C, et al. Cell Mol Life Sci. 2024 Feb 9;81(1):80. doi: 10.1007/s00018-024-05115-4. Cell Mol Life Sci. 2024. PMID: 38334784 Free PMC article.

9

[Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review].

Cai S, Yang J, Wang S, Chen H, Zhao W, Zhou X, Zhang Y. Cai S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jan 10;41(1):59-66. doi: 10.3760/cma.j.cn511374-20230306-00111. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38171561 Review. Chinese.

10

Molecular Analysis of Dihydropteroate Synthase Gene Mutations in Pneumocystis jirovecii Isolates among Bulgarian Patients with Pneumocystis Pneumonia.

Tsvetkova N, Harizanov R, Rainova I, Ivanova A, Yancheva-Petrova N. Tsvetkova N, et al. Int J Mol Sci. 2023 Nov 29;24(23):16927. doi: 10.3390/ijms242316927. Int J Mol Sci. 2023. PMID: 38069248 Free PMC article.

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