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Biochemical and Biophysical Research Communications|February 6, 2007
MERRF syndrome without ragged-red fibers: the need for molecular diagnosisMichelangelo Mancuso, Lucia Petrozzi, Massimiliano Filosto, et al.Journal of Neurology|December 5, 2009
Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementationMichelangelo Mancuso, Daniele Orsucci, Annalisa Logerfo, et al.Neuropediatrics|January 24, 2023
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH DeficiencyCarolina Croci, Matteo Cataldi, Serena Baratto, et al.Journal of Child Neurology|March 25, 2014
A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduriaCélia Nogueira, Maria Chiara Meschini, Claudia Nesti, et al.JIMD Reports|March 2, 2017
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.Annals of Clinical and Translational Neurology|April 3, 2020
Expanding the clinical and genetic heterogeneity of SPAX5Claudia Dosi, Daniele Galatolo, Anna Rubegni, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 27, 2017
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1Anna Rubegni, Tiziana Pisano, Giacomo Bacci, et al.Biochemical and Biophysical Research Communications|April 7, 2018
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW geneElena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, et al.Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.Biochemical and Biophysical Research Communications|April 1, 2009
Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disordersTeresa Rizza, Martha Elisa Vazquez-Memije, Maria Chiara Meschini, et al.Pageof 7