PubRank

Dario Ronchi

Author PubWeight™ 27.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms. Exp Neurol 2011 1.59
2 Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 2013 1.55
3 Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy. Sci Transl Med 2012 1.44
4 Spinal cord calcification in an early-onset progressive leukoencephalopathy. J Child Neurol 2011 1.41
5 Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008 1.39
6 Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest 2008 1.37
7 Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 2013 1.30
8 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol 2008 1.17
9 The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet 2009 1.16
10 Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol 2010 1.13
11 Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain 2009 1.11
12 The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol 2013 1.09
13 Mitochondrial fusion proteins and human diseases. Neurol Res Int 2013 1.02
14 Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 2015 0.98
15 Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease. Biochim Biophys Acta 2011 0.96
16 Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction. J Neurol Sci 2008 0.92
17 Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol 2012 0.91
18 Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. J Neurol Sci 2009 0.89
19 Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab 2013 0.87
20 Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Hum Mol Genet 2012 0.87
21 POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. BMC Neurol 2013 0.86
22 Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. J Med Genet 2012 0.82
23 Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature. J Neurol 2013 0.80
24 Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families. J Neurol Sci 2011 0.80
25 Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients. Respir Physiol Neurobiol 2013 0.78
26 Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis. Crit Care Med 2016 0.76
27 A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations. BMC Neurol 2014 0.76
28 Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association? Eur Neurol 2013 0.75