Stefania Corti
Università degli Studi di Milano Facoltà di Medicina e Chirurgia
127 papers found
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Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families
Download from www.ncbi.nlm.nih.govTwo novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Download from www.researchgate.netUnusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
UploadGenotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
Download from www.researchgate.netNew molecular findings in congenital myopathies due to selenoprotein N gene mutations
UploadHuman motor neuron generation from embryonic stem cells and induced pluripotent stem cells
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