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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 31, 2001
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modelingR Carrozzo, J Murray, O Capuano, et al.Functional Neurology|February 24, 2001
Abnormal H-Tfam in a patient harboring a single mtDNA deletionA Tessa, M L Manca, M Mancuso, et al.Biochemical and Biophysical Research Communications|November 22, 1995
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathyF M Santorelli, S C Mak, M Vàzquez-Acevedo, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 22, 2024
Deep neurological phenotyping in oculo-dento-digital syndromeP Lopriore, M Vista, P Maritato, et al.Neurology|September 12, 2000
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutationF M Santorelli, C Patrono, D Fortini, et al.Revue Neurologique|April 29, 2008
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]M Anheim, D Chaigne, M Fleury, et al.Neurology|February 26, 2003
Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutationL M Cupini, R Massa, R Floris, et al.Journal of Neurology|May 23, 2006
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathyL Santoro, F Manganelli, R Lanzillo, et al.Journal of Inherited Metabolic Disease|May 9, 2000
Multiple mtDNA deletions: clinical and molecular correlationsF M Santorelli, G De Joanna, C Casali, et al.Neuromuscular Disorders : NMD|July 19, 2000
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiencyL Santoro, R Carrozzo, A Malandrini, et al.Pageof 13