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Journal of Neurology|July 12, 2017
Revisiting mitochondrial ocular myopathies: a study from the Italian NetworkD Orsucci, C Angelini, E Bertini, et al.
American Journal of Human Genetics|May 1, 1997
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484A Torroni, M Petrozzi, L D'Urbano, et al.
Human Molecular Genetics|March 4, 2000
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patientsG V Börner, M Zeviani, V Tiranti, et al.
The Journal of Biological Chemistry|March 30, 2001
New splicing-site mutations in the SURF1 gene in Leigh syndrome patientsM O Pequignot, I Desguerre, R Dey, et al.
Biochimica Et Biophysica Acta|September 15, 2009
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)J Poulton, M Hirano, A Spinazzola, et al.
Neurology|July 1, 1986
Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell awardJ Herbert, J N Wilcox, K T Pham, et al.
Cell|July 11, 1998
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloproteaseG Casari, M De Fusco, S Ciarmatori, et al.
Annals of Neurology|August 12, 1999
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiencyV Tiranti, M Jaksch, S Hofmann, et al.
Neurology|December 10, 2003
A CAV3 microdeletion differentially affects skeletal muscle and myocardiumR Cagliani, N Bresolin, A Prelle, et al.
Neuromuscular Disorders : NMD|November 28, 2012
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseasesM Mancuso, C Angelini, E Bertini, et al.
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