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

Year Number of Results
1989 2
1990 5
1991 7
1992 5
1993 7
1994 5
1995 3
1996 8
1997 10
1998 8
1999 2
2000 9
2001 4
2002 15
2003 3
2004 2
2005 3
2006 5
2007 4
2008 4
2009 7
2010 5
2011 1
2012 5
2013 6
2014 7
2015 3
2016 6
2017 5
2018 4
2019 3
2020 3
2021 6
2022 5
2023 6
2024 0

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178 results

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Page 1
POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC. Rahman S, et al. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. Nat Rev Neurol. 2019. PMID: 30451971 Free PMC article. Review.
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syn …
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial …
Progressive external ophthalmoplegia.
Hirano M, Pitceathly RDS. Hirano M, et al. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X. Handb Clin Neurol. 2023. PMID: 36813323 Free PMC article. Review.
Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. . …
Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large …
Decoding cell death signals in liver inflammation.
Brenner C, Galluzzi L, Kepp O, Kroemer G. Brenner C, et al. J Hepatol. 2013 Sep;59(3):583-94. doi: 10.1016/j.jhep.2013.03.033. Epub 2013 Apr 6. J Hepatol. 2013. PMID: 23567086 Free article. Review.
Mitochondrial DNA maintenance defects.
El-Hattab AW, Craigen WJ, Scaglia F. El-Hattab AW, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1539-1555. doi: 10.1016/j.bbadis.2017.02.017. Epub 2017 Feb 16. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28215579 Free article. Review.
The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-encoded proteins including a battery of enzymes forming the replisome needed to synthesize mtDNA. ...Mitochondrial DNA maintenance defects (MDMDs) are a group of di …
The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-encoded proteins including a battery o …
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
Both can present as isolated or virtually exclusive conditions, or as part of more complex, frequently multisystem syndromes. In most cases, mutations of mtDNA have been found in association with mitochondrial retinopathy. ...However, mutations in nuclear genes can …
Both can present as isolated or virtually exclusive conditions, or as part of more complex, frequently multisystem syndromes. In most …
Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD).
Genovese A, Butler MG. Genovese A, et al. Int J Mol Sci. 2020 Jul 2;21(13):4726. doi: 10.3390/ijms21134726. Int J Mol Sci. 2020. PMID: 32630718 Free PMC article. Review.
Up to 40 percent of individuals with ASD are now diagnosed with genetic syndromes or have chromosomal abnormalities including small DNA deletions or duplications, single gene conditions, or gene variants and metabolic disturbances with mitoch …
Up to 40 percent of individuals with ASD are now diagnosed with genetic syndromes or have chromosomal abnormalities including small …
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). ...Some patients with PS experience a phenotypical change to Kearns-Sayre syndrome. In the absence of curative …
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA d …
SMARCA4: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy.
Mardinian K, Adashek JJ, Botta GP, Kato S, Kurzrock R. Mardinian K, et al. Mol Cancer Ther. 2021 Dec;20(12):2341-2351. doi: 10.1158/1535-7163.MCT-21-0433. Epub 2021 Oct 12. Mol Cancer Ther. 2021. PMID: 34642211 Free PMC article. Review.
SMARCA4 alterations typify the ultra-rare small cell carcinomas of the ovary hypercalcemic type (SCCOHT) and SMARCA4-deficient thoracic and uterine sarcomas; they are also found in a subset of more common tumors, for example, lung, colon, bladder, and breast carcinomas. Germline …
SMARCA4 alterations typify the ultra-rare small cell carcinomas of the ovary hypercalcemic type (SCCOHT) and SMARCA4-deficient thoracic and …
Pearson syndrome.
Farruggia P, Di Marco F, Dufour C. Farruggia P, et al. Expert Rev Hematol. 2018 Mar;11(3):239-246. doi: 10.1080/17474086.2018.1426454. Epub 2018 Jan 23. Expert Rev Hematol. 2018. PMID: 29337599 Review.
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. ...Accurate supportive treatment and fo …
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of …
Alpers-Huttenlocher syndrome.
Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Saneto RP, et al. Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014. Pediatr Neurol. 2013. PMID: 23419467 Free PMC article. Review.
Alpers-Huttenlocher syndrome is an uncommon mitochondrial disease most often associated with mutations in the mitochondrial DNA replicase, polymerase-gamma. Alterations in enzyme activity result in reduced levels or deletions in mitochondrial …
Alpers-Huttenlocher syndrome is an uncommon mitochondrial disease most often associated with mutations in the mitochondrial …
178 results