PubRank

Mauro Scarpelli

Author PubWeight™ 13.83‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 2013 1.55
2 Disulfiram neuropathy: two cases of distal axonopathy. Clin Toxicol (Phila) 2008 1.47
3 Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. J Neurol 2012 1.15
4 The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol 2013 1.09
5 Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. J Inherit Metab Dis 2011 1.05
6 Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. Neuromuscul Disord 2008 1.05
7 The role of mitochondria in neurodegenerative diseases. J Neurol 2011 1.05
8 Neuropathology of mitochondrial diseases. Biosci Rep 2007 1.05
9 Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 2015 0.98
10 Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement. Neurology 2013 0.84
11 Myoclonus in mitochondrial disorders. Mov Disord 2014 0.82
12 Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet 2013 0.82
13 Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab 2014 0.81
14 A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement. J Neurol Sci 2007 0.78
15 Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA. Drug Discov Today 2013 0.75