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Page 1
Mitochondrial ataxias.
Finsterer J. Finsterer J. Can J Neurol Sci. 2009 Sep;36(5):543-53. doi: 10.1017/s0317167100008027. Can J Neurol Sci. 2009. PMID: 19831121 Review.
More rarely ataxia can be found in AD-CPEO, AR-CPEO, MNGIE, DIDMOAD, CoQ-deficiency, ADOAD, DCMA, or PDC-deficiency. MIDs most frequently associated with ataxia are the non-syndromic MIDs. ...
More rarely ataxia can be found in AD-CPEO, AR-CPEO, MNGIE, DIDMOAD, CoQ-deficiency, ADOAD, DCMA, or PDC-deficiency. MIDs most freque …
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.
Machiraju P, Degtiarev V, Patel D, Hazari H, Lowry RB, Bedard T, Sinasac D, Brundler MA, Greenway SC, Khan A. Machiraju P, et al. J Inherit Metab Dis. 2022 Mar;45(2):366-376. doi: 10.1002/jimd.12441. Epub 2021 Oct 7. J Inherit Metab Dis. 2022. PMID: 34580891
The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DnaJ heat shock protein family (Hsp40) member C19 (DNAJC19) gene. DCMA or 3-methylglutaconic aciduria type V is globally rare, bu …
The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in …
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B. Janz A, et al. Mol Metab. 2024 Jan;79:101859. doi: 10.1016/j.molmet.2023.101859. Epub 2023 Dec 23. Mol Metab. 2024. PMID: 38142971 Free PMC article.
BACKGROUND: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19, which encodes an inner mitochondrial membrane protein. ...Moreover, increased mitochondrial respiration, altered substrate utilization, in …
BACKGROUND: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19 …
Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies.
Bertero E, Kutschka I, Maack C, Dudek J. Bertero E, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Aug 1;1866(8):165803. doi: 10.1016/j.bbadis.2020.165803. Epub 2020 Apr 27. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32348916 Free article. Review.
These findings may also have implications for the molecular mechanisms underlying other inherited disorders associated with defects in cardiolipin, such as Sengers syndrome and dilated cardiomyopathy with ataxia (DCMA)....
These findings may also have implications for the molecular mechanisms underlying other inherited disorders associated with defects in cardi …
Reversible Mitochondrial Fragmentation in iPSC-Derived Cardiomyocytes From Children With DCMA, a Mitochondrial Cardiomyopathy.
Rohani L, Machiraju P, Sabouny R, Meng G, Liu S, Zhao T, Iqbal F, Wang X, Ravandi A, Wu JC, Khan A, Shutt T, Rancourt D, Greenway SC. Rohani L, et al. Can J Cardiol. 2020 Apr;36(4):554-563. doi: 10.1016/j.cjca.2019.09.021. Epub 2019 Oct 9. Can J Cardiol. 2020. PMID: 32046906
BACKGROUND: Dilated cardiomyopathy with ataxia syndrome (DCMA) is an understudied autosomal recessive disease caused by loss-of-function mutations in the poorly characterized gene DNAJC19. Clinically, DCMA is commonly associated with heart failure and early d …
BACKGROUND: Dilated cardiomyopathy with ataxia syndrome (DCMA) is an understudied autosomal recessive disease caused by loss-o …
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP. Davey KM, et al. J Med Genet. 2006 May;43(5):385-93. doi: 10.1136/jmg.2005.036657. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055927 Free PMC article.
BACKGROUND: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by early onset dilated cardiomyopathy with conduction defects, non-progressive c …
BACKGROUND: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in …
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.
Benson MD, Ferreira P, MacDonald IM. Benson MD, et al. Ophthalmic Genet. 2017 Jan-Feb;38(1):88-90. doi: 10.3109/13816810.2015.1137327. Epub 2016 Apr 7. Ophthalmic Genet. 2017. PMID: 27054461
Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial condition associated with early onset cardiomyopathy and non-progressive ataxia. ...We thus report the first cases of oculomotor apraxia in DCMA syndrome. By identifying these a …
Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial condition associated with early onset cardiomyopath …
Addition of Digoxin Improves Cardiac Function in Children With the Dilated Cardiomyopathy With Ataxia Syndrome: A Mitochondrial Cardiomyopathy.
Greenway SC, Dallaire F, Hazari H, Patel D, Khan A. Greenway SC, et al. Can J Cardiol. 2018 Aug;34(8):972-977. doi: 10.1016/j.cjca.2018.02.019. Epub 2018 Mar 1. Can J Cardiol. 2018. PMID: 29887217
BACKGROUND: The dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial disorder characterized by progressive cardiomyopathy, prolonged QT interval and early death in childhood related to intractable heart failure. We present a case series of 9 ch …
BACKGROUND: The dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial disorder characterized by progressi …
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff HJ, Ergün S, Gerull B. Janz A, et al. Stem Cell Res. 2020 Jul;46:101856. doi: 10.1016/j.scr.2020.101856. Epub 2020 Jun 2. Stem Cell Res. 2020. PMID: 32521499 Free article.
Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived dermal fibroblast cell lines of siblings with the same homozygous splice acceptor site mutation in DNAJC19 (NM_145261.4):c.130-1G>C were r …
Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived d …
30 results