Published in BMC Med Genet on August 10, 2012
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Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging (2009) 1.62
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Amyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndrome. Neuromuscul Disord (2007) 1.44
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet (2008) 1.43
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FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging (2010) 1.42
A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2011) 1.42
Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. Haematologica (2008) 1.41
Extensive genetics of ALS: a population-based study in Italy. Neurology (2012) 1.39
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C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging (2012) 1.13
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A 3'-untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosus. Arthritis Rheum (2010) 0.99
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
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging (2012) 0.98
Endothelial cells obtained from patients affected by chronic venous disease exhibit a pro-inflammatory phenotype. PLoS One (2012) 0.97
Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population. PLoS One (2010) 0.97
Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population. J Neurol Sci (2007) 0.96
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Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease. Circ Cardiovasc Genet (2009) 0.96
Longitudinal assessment of grey matter contraction in amyotrophic lateral sclerosis: A tensor based morphometry study. Amyotroph Lateral Scler (2009) 0.96
PRKCA and multiple sclerosis: association in two independent populations. PLoS Genet (2006) 0.95
Activation of NF-kappaB by IL-1beta blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human gamma-fibrinogen gene. Cell Signal (2007) 0.95
Resting muscle oxygen consumption by near-infrared spectroscopy in peripheral arterial disease: A parameter to be considered in a clinical setting? Angiology (2010) 0.95
Altered collagen expression in jugular veins in multiple sclerosis. Cardiovasc Pathol (2012) 0.94
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus. Hum Mol Genet (2009) 0.94
No association of DPP6 with amyotrophic lateral sclerosis in an Italian population. Neurobiol Aging (2009) 0.94
Regarding "no cerebrocervical venous congestion in patients with multiple sclerosis. Intraluminal jugular septation". Ann Neurol (2010) 0.94
Notch1 regulates chemotaxis and proliferation by controlling the CC-chemokine receptors 5 and 9 in T cell acute lymphoblastic leukaemia. J Pathol (2011) 0.93
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A functional variant in ERAP1 predisposes to multiple sclerosis. PLoS One (2012) 0.93
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Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia. Radiology (2010) 0.93
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein. Ann Rheum Dis (2012) 0.92
HLA-multiple sclerosis association in continental Italy and correlation with disease prevalence in Europe. J Neuroimmunol (2004) 0.92
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis. BMC Med Genet (2010) 0.92
Endothelial nitric oxide synthase gene polymorphisms in Behçet's disease. J Rheumatol (2002) 0.91
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid (2006) 0.91