PubRank

Tiziana Mongini

Author PubWeight™ 28.49‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord 2010 2.14
2 Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 2013 1.55
3 24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One 2013 1.34
4 Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 2002 1.22
5 Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012 1.17
6 The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol 2013 1.09
7 Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve 2004 1.07
8 Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain 2013 1.05
9 Phenotype modulators in myophosphorylase deficiency. Ann Neurol 2003 1.02
10 Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol 2003 0.98
11 Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 2015 0.98
12 Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures. BMC Neurol 2012 0.90
13 Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol 2006 0.88
14 Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab 2013 0.87
15 Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet 2012 0.83
16 SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy. Brain 2006 0.83
17 Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord 2011 0.83
18 Myoclonus in mitochondrial disorders. Mov Disord 2014 0.82
19 Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Med Genet 2012 0.82
20 Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol 2007 0.82
21 Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis 2014 0.81
22 McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat 2006 0.81
23 Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment. J Am Geriatr Soc 2006 0.81
24 Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. Lung 2013 0.81
25 New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. Muscle Nerve 2012 0.80
26 The empowerment of translational research: lessons from laminopathies. Orphanet J Rare Dis 2012 0.80
27 Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol 2015 0.78
28 Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy. Brain Pathol 2005 0.78
29 Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. Neurol Sci 2012 0.76
30 Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes. PLoS One 2015 0.75
31 The indistinct borders between psychological motivation, self-esteem, stress response and pain underline this assumption. Neuromuscul Disord 2012 0.75
32 Glycogen storage disease type II diagnosed in a 74-year-old woman. J Am Geriatr Soc 2004 0.75
33 Sensory ataxic neuropathy and esophageal achalasia in a patient with Sjogren's syndrome. Muscle Nerve 2007 0.75
34 Acute neuromuscular failure related to long-term botulinum toxin therapy. Eur Neurol 2004 0.75