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Results by year

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

Year Number of Results
2007 2
2009 1
2013 1
2014 1
2015 4
2016 4
2017 5
2019 2
2020 3
2021 1
2022 1
2023 0

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PubMed (Bookshelf cited) for id: 413170

18 results

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Page 1
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H. Hiramatsu Y, et al. J Neurol. 2022 Aug;269(8):4129-4140. doi: 10.1007/s00415-022-11026-w. Epub 2022 Mar 2. J Neurol. 2022. PMID: 35235001 Free PMC article.
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L, Liu Y, Shen M, Liu Y, He R, Song J, Jin Y, Li M, Zhang Y, Dong H, Liu X, Yan H, Qin J, Zheng H, Chen Y, Li D, Wei H, Zhang H, Sun L, Zhu Z, Liang D, Yang Y. Kang L, et al. J Inherit Metab Dis. 2020 May;43(3):409-423. doi: 10.1002/jimd.12183. Epub 2019 Nov 26. J Inherit Metab Dis. 2020. PMID: 31622506
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
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.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Huang X, et al. Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12. Mol Genet Metab. 2017. PMID: 27913098 Free PMC article.
18 results