Found: 14
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Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.
- Published in:
- Journal of Clinical Medicine, 2017, v. 6, n. 8, p. 80, doi. 10.3390/jcm6080080
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- Article
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2768, doi. 10.1093/hmg/dds105
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- Article
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4905, doi. 10.1093/hmg/ddp458
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- Article
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
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- Human Molecular Genetics, 2008, v. 17, n. 16, p. 2496, doi. 10.1093/hmg/ddn150
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- Article
A national perspective on prenatal testing for mitochondrial disease.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35
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- Article
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1967, doi. 10.1093/brain/awae057
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- Article
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
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- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1260496
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- Article
A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism.
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- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 7, p. 3512, doi. 10.1210/jc.2009-2532
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- Article
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 445, doi. 10.1007/s10545-014-9778-4
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- Article
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3200, doi. 10.1093/brain/awu279
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- Article
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231
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- Article
X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.
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- Developmental Medicine & Child Neurology, 2010, v. 52, n. 7, p. 677, doi. 10.1111/j.1469-8749.2010.03674.x
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- Article
Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features.
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- Epilepsia (Series 4), 2013, v. 54, n. 6, p. 1002, doi. 10.1111/epi.12115
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- Article
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145500
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- Article