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Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub.
Brain Dev. 2018 May;40(5):444. doi: 10.1016/j.braindev.2018.02.006. Epub 2018 Mar 2.
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The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.
Mol Genet Metab Rep. 2016 Feb 22;6:64-9. doi: 10.1016/j.ymgmr.2016.02.003. eCollection 2016 Mar.
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Reply to the Letter to the Editor by Josef Finsterer and Sinda Zarrouk-Mahjoub.
Pediatr Neurol. 2018 Jan;78:e11. doi: 10.1016/j.pediatrneurol.2017.09.011. Epub 2017 Sep 21.
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Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'.
Neurogenetics. 2018 May;19(2):133-134. doi: 10.1007/s10048-018-0542-z. Epub 2018 Feb 26.
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Response to the Letter to the Editor by Finsterer and Zarrouk-Mahjoub in Clin Nephrol Case Stud. 2018; 6: 1.
Clin Nephrol Case Stud. 2018 Jan 16;6:2-3. doi: 10.5414/CNCS109366R. eCollection 2018.

本文引用的文献

1
The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.
Mol Genet Metab Rep. 2016 Feb 22;6:64-9. doi: 10.1016/j.ymgmr.2016.02.003. eCollection 2016 Mar.
2
Cardiac manifestations of primary mitochondrial disorders.
Int J Cardiol. 2014 Dec 20;177(3):754-63. doi: 10.1016/j.ijcard.2014.11.014. Epub 2014 Nov 5.
3
Stroke and Stroke-like Episodes in Muscle Disease.
Open Neurol J. 2012;6:26-36. doi: 10.2174/1874205X01206010026. Epub 2012 May 18.
4
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.
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Molecular pathology of MELAS and L-arginine effects.
Biochim Biophys Acta. 2012 May;1820(5):608-14. doi: 10.1016/j.bbagen.2011.09.005. Epub 2011 Sep 14.
6
Topiramate and visual loss in a patient carrying a Leber hereditary optic neuropathy mutation.
Neurol Sci. 2012 Apr;33(2):419-21. doi: 10.1007/s10072-011-0755-5. Epub 2011 Sep 7.

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