PubRank

Vincenzo Nigro

Author PubWeight™ 41.61‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum Genet 2002 1.17
2 Delta-sarcoglycan is required for early zebrafish muscle organization. Exp Cell Res 2004 1.16
3 Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet 2011 1.16
4 Restoration of deficient membrane proteins in the cardiomyopathic hamster by in vivo cardiac gene transfer. Circulation 2002 1.14
5 A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet 2009 1.12
6 Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments. PLoS One 2009 1.09
7 Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005 1.08
8 Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat 2008 1.07
9 Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One 2013 1.07
10 Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet 2002 1.06
11 Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy. PLoS One 2011 1.05
12 Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Hum Mol Genet 2011 1.05
13 Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders. Clin Chem 2011 1.03
14 The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function. Blood 2005 1.02
15 Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat 2005 1.02
16 Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One 2012 1.01
17 Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2004 0.99
18 Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. Eur J Hum Genet 2003 0.97
19 Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle Nerve 2014 0.96
20 Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. Cell Cycle 2008 0.95
21 Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant. Ophthalmic Genet 2013 0.92
22 Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy 2015 0.91
23 Reverse engineering gene network identifies new dysferlin-interacting proteins. J Biol Chem 2010 0.90
24 Calpain-3 mutations in Turkey. Eur J Pediatr 2006 0.88
25 Familial polyglucosan body myopathy with unusual phenotype. Neuropathol Appl Neurobiol 2015 0.86
26 Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Hum Genet 2002 0.86
27 Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations. Clin Chem 2008 0.86
28 Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing. Anal Biochem 2010 0.85
29 Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. J Cell Physiol 2011 0.85
30 The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis 2013 0.84
31 Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. Clin Chem 2003 0.84
32 A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein. J Mol Med (Berl) 2007 0.83
33 One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. J Mol Diagn 2009 0.83
34 Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2010 0.82
35 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 2012 0.82
36 Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. Acta Myol 2011 0.81
37 Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. Hum Gene Ther 2015 0.81
38 Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments. J Comput Biol 2014 0.80
39 Enhancer chip: detecting human copy number variations in regulatory elements. PLoS One 2012 0.80
40 Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE. Hum Mutat 2004 0.79
41 Perioral skin biopsy to study skeletal muscle protein expression. Muscle Nerve 2010 0.79
42 Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol 2013 0.77
43 On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers. Ann Neurol 2003 0.76
44 Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy. Hum Gene Ther 2013 0.75
45 Improving the course of muscular dystrophy? Acta Myol 2012 0.75
46 Familial trisomy 6p in mother and daughter. Am J Med Genet A 2013 0.75
47 Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. Horm Res Paediatr 2016 0.75