PubRank

Alessandra Ferlini

Author PubWeight™ 69.77‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003 3.46
2 Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord 2007 2.03
3 Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy. Eur J Nucl Med Mol Imaging 2010 1.98
4 Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation 2009 1.93
5 Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve 2012 1.88
6 Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 2012 1.77
7 Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A 2007 1.74
8 Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A 2008 1.59
9 Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model. Mol Ther 2010 1.32
10 Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics 2002 1.30
11 A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol 2014 1.25
12 Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord 2010 1.24
13 Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging 2011 1.19
14 Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain 2011 1.17
15 Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012 1.17
16 Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One 2013 1.16
17 A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics 2008 1.11
18 Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 2009 1.09
19 Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. Mol Ther 2009 1.04
20 Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy. PLoS Comput Biol 2012 1.02
21 Translational and regulatory challenges for exon skipping therapies. Hum Gene Ther 2014 1.02
22 Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest 2010 1.01
23 Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol 2011 0.99
24 Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat 2014 0.99
25 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.98
26 Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord 2013 0.97
27 Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. J Biomed Biotechnol 2012 0.97
28 Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy. Nucleic Acid Ther 2014 0.97
29 Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol 2011 0.96
30 Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet 2010 0.95
31 Exon skipping-mediated dystrophin reading frame restoration for small mutations. Hum Mutat 2009 0.94
32 Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat 2009 0.92
33 Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev 2011 0.92
34 Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr 2013 0.92
35 Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid 2006 0.91
36 Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics 2013 0.91
37 Association of CYP1B1 with hypersensitivity induced by taxane therapy in breast cancer patients. Breast Cancer Res Treat 2010 0.90
38 Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. J Pediatr 2012 0.89
39 Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. Gene 2003 0.88
40 The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms. PLoS One 2012 0.87
41 Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. J Neuropathol Exp Neurol 2010 0.86
42 Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy. Hum Gene Ther 2012 0.86
43 Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis 2007 0.86
44 The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey. Genet Test 2008 0.85
45 Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. J Proteome Res 2014 0.84
46 Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs. Eur J Hum Genet 2005 0.84
47 Gender-related risk of myocardial involvement in systemic amyloidosis. Amyloid 2008 0.84
48 Non-coding RNAs in muscle dystrophies. Int J Mol Sci 2013 0.82
49 Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy. Hum Gene Ther 2010 0.82
50 Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy. Blood Transfus 2012 0.82
51 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
52 Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol 2013 0.82
53 Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers. J Cardiovasc Magn Reson 2014 0.80
54 Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. Hum Mutat 2012 0.80
55 Defining the diagnosis in echocardiographically suspected senile systemic amyloidosis. JACC Cardiovasc Imaging 2012 0.79
56 Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia. Radiology 2002 0.78
57 SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. Mol Genet Metab 2013 0.78
58 Novel mutations in the SLC26A4 gene. Int J Pediatr Otorhinolaryngol 2012 0.78
59 Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient. J Child Neurol 2010 0.78
60 The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. BMC Med Genet 2012 0.78
61 POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking. J Clin Invest 2015 0.77
62 Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report. BMC Med Genet 2013 0.77
63 Neuromuscular disease: Muscular dystrophy--something new on God's green earth? Nat Rev Neurol 2012 0.77
64 LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet A 2011 0.77
65 Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy. Neuromuscul Disord 2005 0.77
66 Biodistribution studies of polymeric nanoparticles for drug delivery in mice. Hum Gene Ther 2014 0.76
67 Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role. Amyloid 2015 0.76
68 Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. Liver Int 2006 0.75
69 Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. J Mol Evol 2003 0.75
70 A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics. Cardiology 2017 0.75
71 Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories. Prenat Diagn 2006 0.75
72 Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. Neurologist 2012 0.75
73 In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. Biochem Biophys Res Commun 2004 0.75
74 Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis. Prenat Diagn 2006 0.75
75 Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med 2015 0.75
76 Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin. Hemoglobin 2014 0.75
77 Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. Am J Med Genet A 2005 0.75
78 Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med 2015 0.75
79 Thyroid function in Rett syndrome. Horm Res Paediatr 2015 0.75