Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1993 1
2014 1
2017 1
2021 1
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT. DiMauro S, et al. Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. Arch Neurol. 1993. PMID: 8215979 Review.
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes. ...The vast …
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA …
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) mainten …
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular s …
Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy.
Campbell T, Slone J, Huang T. Campbell T, et al. Cells. 2022 Sep 11;11(18):2835. doi: 10.3390/cells11182835. Cells. 2022. PMID: 36139411 Free PMC article. Review.
Mitochondrial cardiomyopathy can be isolated or part of a syndromic mitochondrial disease. ...The underlying pathophysiology of mitochondrial cardiomyopathy is complex and likely involves multiple abnormal processes in the cell, stemming from deficient …
Mitochondrial cardiomyopathy can be isolated or part of a syndromic mitochondrial disease. ...The underlying pathophysi …
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
Liu Z, Fang F, Ding C, Wu H, Lyu J, Wu Y. Liu Z, et al. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):817-21. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582465 Review. Chinese.
OBJECTIVE: To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome (MDS) in one patient, and review the latest clinical research reports. ...By Next-Generation Sequencing (NGS), we identified a …
OBJECTIVE: To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion …
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
Gilea AI, Ceccatelli Berti C, Magistrati M, di Punzio G, Goffrini P, Baruffini E, Dallabona C. Gilea AI, et al. Genes (Basel). 2021 Nov 24;12(12):1866. doi: 10.3390/genes12121866. Genes (Basel). 2021. PMID: 34946817 Free PMC article. Review.
Mitochondrial DNA (mtDNA) maintenance is critical for oxidative phosphorylation (OXPHOS) since some subunits of the respiratory chain complexes are mitochondrially encoded. Pathological mutations in nuclear genes involved in the mtDNA metabolism may result in a quan …
Mitochondrial DNA (mtDNA) maintenance is critical for oxidative phosphorylation (OXPHOS) since some subunits of the respirator …
Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.
Neagu AC, Budișteanu M, Gheorghe DC, Mocanu AI, Mocanu H. Neagu AC, et al. Medicina (Kaunas). 2022 Sep 9;58(9):1252. doi: 10.3390/medicina58091252. Medicina (Kaunas). 2022. PMID: 36143929 Free PMC article. Review.
An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, …
An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to …