FERNANDO SCAGLIA to Muscle, Skeletal
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Muscle, Skeletal.
Connection Strength
0.317
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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004 Feb; 41(2):125-9.
Score: 0.141
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Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab. 2011 Jun; 103(2):153-60.
Score: 0.058
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Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol. 2005 Feb; 62(2):317-20.
Score: 0.038
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Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A. 2003 Dec 01; 123A(2):172-8.
Score: 0.035
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Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8.
Score: 0.029
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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: 0.017