PubRank

Rita Barresi

Author PubWeight™ 50.74‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002 5.21
2 Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts. Science 2003 3.21
3 Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012 3.02
4 Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 2004 2.33
5 Posttranslational modification of alpha-dystroglycan, the cellular receptor for arenaviruses, by the glycosyltransferase LARGE is critical for virus binding. J Virol 2005 2.17
6 Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels. Science 2003 2.05
7 Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell 2002 2.01
8 Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization. Neuron 2003 1.80
9 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 2013 1.64
10 Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet 2010 1.62
11 Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol 2006 1.59
12 Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet 2009 1.37
13 From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J 2007 1.34
14 New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry 2009 1.28
15 Loss of sarcolemma nNOS in sarcoglycan-deficient muscle. FASEB J 2002 1.26
16 Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. J Neurosci 2008 1.22
17 Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve 2010 1.21
18 Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function. FEBS Lett 2005 1.12
19 Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy. Sci Transl Med 2012 1.06
20 Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? Neuromuscul Disord 2008 0.98
21 Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain 2007 0.98
22 Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations. Stem Cells Dev 2013 0.95
23 ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat 2013 0.95
24 Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neuropathol 2013 0.91
25 Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy. Proc Natl Acad Sci U S A 2003 0.91
26 Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord 2008 0.88
27 Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. Neuromuscul Disord 2009 0.88
28 Cell stiffness and receptors: evidence for cytoskeletal subnetworks. Am J Physiol Cell Physiol 2004 0.88
29 Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency. Hum Mol Genet 2011 0.86
30 Muscular dystrophy in dysferlin-deficient mouse models. Neuromuscul Disord 2013 0.86
31 Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. Eur J Hum Genet 2011 0.82
32 Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul Disord 2010 0.80
33 Progressive dysphagia in limb-girdle muscular dystrophy type 2B. Muscle Nerve 2011 0.78
34 Exon skipping and gene transfer restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations. Stem Cells Dev 2013 0.76
35 Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscul Disord 2011 0.76
36 Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis. PLoS Curr 2013 0.75
37 A 29-year-old man with difficulty climbing the stairs. Brain Pathol 2014 0.75