WILLIAM CRAIGEN to Mitochondrial Diseases
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Mitochondrial Diseases.
Connection Strength
2.385
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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.
Score: 0.363
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Mitochondrial DNA mutations: an overview of clinical and molecular aspects. Methods Mol Biol. 2012; 837:3-15.
Score: 0.324
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Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab. 2010 Jun; 100(2):111-7.
Score: 0.286
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Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. J Biol Chem. 2010 Apr 09; 285(15):11143-53.
Score: 0.284
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Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial disease. Methods. 2002 Apr; 26(4):364-70.
Score: 0.165
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Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017 06; 1863(6):1539-1555.
Score: 0.116
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FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr; 91(4):634-639.
Score: 0.115
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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45.
Score: 0.105
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Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61.
Score: 0.090
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Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93.
Score: 0.088
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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet. 2011 Dec; 56(12):834-9.
Score: 0.080
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Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet. 2011 Oct; 48(10):669-81.
Score: 0.079
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Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70.
Score: 0.076
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Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 12 20; 5(12):e15687.
Score: 0.076
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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010 Mar; 99(3):300-8.
Score: 0.070
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
Score: 0.049
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Genetic disorders with both hearing loss and cardiovascular abnormalities. Adv Otorhinolaryngol. 2011; 70:66-74.
Score: 0.019