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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2008 | 2 |
2011 | 2 |
2012 | 1 |
2016 | 1 |
2018 | 1 |
2019 | 1 |
2024 | 0 |
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7 results
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Page 1
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.
Brain Pathol. 2019 Jan;29(1):97-113. doi: 10.1111/bpa.12640. Epub 2018 Oct 9.
Brain Pathol. 2019.
PMID: 30021052
Free PMC article.
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.
Wong LJ, et al.
Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824.
Hum Mutat. 2008.
PMID: 18546365
Free PMC article.
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A novel POLG gene mutation in a patient with SANDO.
Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M.
Kurt B, et al.
J Exp Integr Med. 2012;2(2):10.5455/jeim.200312.cr.001. doi: 10.5455/jeim.200312.cr.001.
J Exp Integr Med. 2012.
PMID: 24265579
Free PMC article.
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Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE.
Mohamed K, Fathallah W, Ahmed E.
Mohamed K, et al.
J Inherit Metab Dis. 2011 Apr;34(2):439-41. doi: 10.1007/s10545-011-9278-8. Epub 2011 Feb 9.
J Inherit Metab Dis. 2011.
PMID: 21305355
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Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.
Tang S, et al.
J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.
J Med Genet. 2011.
PMID: 21880868
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Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J.
Ashley N, et al.
Hum Mol Genet. 2008 Aug 15;17(16):2496-506. doi: 10.1093/hmg/ddn150. Epub 2008 May 16.
Hum Mol Genet. 2008.
PMID: 18487244
Free PMC article.
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Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM.
Martikainen MH, et al.
JAMA Neurol. 2016 Jun 1;73(6):668-74. doi: 10.1001/jamaneurol.2016.0355.
JAMA Neurol. 2016.
PMID: 27111573
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