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Neuropediatrics|March 3, 2023
Expanding the Spectrum of NUBPL-Related LeukodystrophyDavide Tonduti, Alberto A Zambon, Daniele Ghezzi, et al.Science Translational Medicine|March 8, 2013
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosisRosa Ferriero, Giuseppe Manco, Eleonora Lamantea, et al.Neuromuscular Disorders : NMD|November 29, 2023
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA<sup>Pro</sup>Elena Ghirigato, Francesca Terenzi, Mirko Baglivo, et al.Plos One|March 31, 2017
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetryMassimo Cesareo, Elena Ciuffoletti, Alessio Martucci, et al.Journal of Neurology|July 26, 2014
A new mutation in GJC2 associated with subclinical leukodystrophyCharles K Abrams, Steven S Scherer, Rafael Flores-Obando, et al.Molecular Genetics and Metabolism Reports|January 11, 2017
Pure myopathy with enlarged mitochondria associated to a new mutation in <i>MTND2</i> geneAlice Zanolini, Ana Potic, Franco Carrara, et al.Journal of Neurology|January 30, 2013
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?Ettore Salsano, Laura Farina, Costanza Lamperti, et al.Human Molecular Genetics|September 13, 2005
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathyLuigi Palmieri, Simona Alberio, Isabella Pisano, et al.Annals of Neurology|September 5, 2002
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegiaEleonora Lamantea, Valeria Tiranti, Andreina Bordoni, et al.Brain : a Journal of Neurology|December 6, 2008
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsJennifer L Orthmann-Murphy, Ettore Salsano, Charles K Abrams, et al.Pageof 9