Published in Ann Neurol on April 01, 2006
Risk Factors in Early Multiple Sclerosis (RISEMS) | NCT03586986
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Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability. J Neurol Sci (2007) 1.61
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Hypersexual behaviour, frotteurism and delusional jealousy in a young parkinsonian patient during dopaminergic therapy with pergolide: A rare case of iatrogenic paraphilia. Prog Neuropsychopharmacol Biol Psychiatry (2006) 1.43
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One (2007) 1.42
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain (2002) 1.37
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nat Genet (2011) 1.30
Videolaparoscopy as rescue therapy and placement of peritoneal dialysis catheters: a thirty-two case single centre experience. Nephrol Dial Transplant (2006) 1.29
Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol (2004) 1.28
Relevance of cognitive deterioration in early relapsing-remitting MS: a 3-year follow-up study. Mult Scler (2010) 1.22
Association of neocortical volume changes with cognitive deterioration in relapsing-remitting multiple sclerosis. Arch Neurol (2007) 1.22
N-glycomic changes in serum proteins during human aging. Rejuvenation Res (2007) 1.13
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging (2012) 1.13
Population based study of 12 autoimmune diseases in Sardinia, Italy: prevalence and comorbidity. PLoS One (2012) 1.12
Reversible Pisa syndrome in patients with Parkinson's disease on dopaminergic therapy. J Neurol (2009) 1.12
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Othello syndrome in Parkinson disease patients without dementia. Neurologist (2009) 1.09
Safety and tolerability in relapsing-remitting multiple sclerosis patients treated with high-dose subcutaneous interferon-beta by Rebiject autoinjection over a 1-year period: the CoSa study. Clin Neuropharmacol (2008) 1.08
Cerebral hemorrhages in CADASIL: report of four cases and a brief review. J Neurol Sci (2013) 1.08
Diffuse axonal and tissue injury in patients with multiple sclerosis with low cerebral lesion load and no disability. Arch Neurol (2002) 1.07
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat (2009) 1.07
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. Brain (2011) 1.06
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. Arch Neurol (2010) 1.06
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation. Brain (2011) 1.05
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol (2009) 1.05
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol (2004) 1.05
Improving the characterization of radiologically isolated syndrome suggestive of multiple sclerosis. PLoS One (2011) 1.05
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry (2012) 1.04
Association of Mycobacterium avium subsp. paratuberculosis with multiple sclerosis in Sardinian patients. PLoS One (2011) 1.03
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol (2004) 1.03
Patient adherence to and tolerability of self-administered interferon β-1a using an electronic autoinjection device: a multicentre, open-label, phase IV study. BMC Neurol (2012) 1.02
Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. J Cell Physiol (2009) 1.02
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat (2005) 1.01
MR spectroscopy in multiple sclerosis. J Neuroimaging (2007) 1.01
Fate of neutralizing and binding antibodies to IFN beta in MS patients treated with IFN beta for 6 years. J Neurol Sci (2003) 1.01
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics (2006) 1.00
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet (2004) 0.99
Brain atrophy assessment in multiple sclerosis: importance and limitations. Neuroimaging Clin N Am (2008) 0.99
Topiramate effects on plasma serotonin levels in children with epilepsy. Epilepsy Res (2008) 0.98
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. Hum Mutat (2004) 0.98
Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol (2015) 0.98
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. J Neurol (2009) 0.98
Gender differences in motor and non-motor symptoms among Sardinian patients with Parkinson's disease. J Neurol Sci (2012) 0.97
Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study. Cerebrovasc Dis (2010) 0.96
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. J Hum Genet (2007) 0.95
Acute metabolic brain changes following traumatic brain injury and their relevance to clinical severity and outcome. J Neurol Neurosurg Psychiatry (2006) 0.95
Predictors of long-term clinical response to interferon beta therapy in relapsing multiple sclerosis. J Neurol (2005) 0.95
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. Neurobiol Aging (2011) 0.94
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. Mol Vis (2010) 0.94
Are Mycobacterium avium subsp. paratuberculosis and Epstein-Barr virus triggers of multiple sclerosis in Sardinia? Mult Scler (2012) 0.94
Magnetic resonance spectroscopy as a measure of brain damage in multiple sclerosis. J Neurol Sci (2005) 0.94
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Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke (2005) 0.93
Cost-analysis of relapsing-remitting multiple sclerosis in Italy after the introduction of new disease-modifying agents. Clin Drug Investig (2004) 0.93
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. J Neurol (2014) 0.93
Cerebrospinal fluid tau, A beta, and phosphorylated tau protein for the diagnosis of Alzheimer's disease. J Cell Physiol (2006) 0.92
Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family. Brain Dev (2009) 0.92
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. JIMD Rep (2012) 0.91
Evidence of diffuse damage in frontal and occipital cortex in the brain of patients with post-traumatic stress disorder. Neurol Sci (2011) 0.91
The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone. Hum Mol Genet (2004) 0.91
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement. Muscle Nerve (2010) 0.91
Physiology and pathology of notch signalling system. J Cell Physiol (2006) 0.91
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. J Neurol (2008) 0.91
Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes. Diabetes (2004) 0.90
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. Arch Neurol (2004) 0.90
1H-MR spectroscopy in traumatic brain injury. Neurocrit Care (2011) 0.90
MR correlates of cerebral atrophy in patients with multiple sclerosis. J Neurol (2002) 0.90