Published in J Neurol Sci on July 07, 2008
The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol (2010) 1.51
Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis. Acta Neuropathol Commun (2014) 0.78
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene. J Neurol Sci (2009) 0.77
Use of 3,5-dichloro-2-hydroxybenzenesulfonic acid/4-aminophenazone chromogenic system in direct enzymic assay of uric acid in serum and urine. Clin Chem (1980) 2.59
A case of pyoderma gangrenosum with ulcerative colitis treated with combined approach: infliximab and surgery. J Crohns Colitis (2012) 2.12
Flows of research manuscripts among scientific journals reveal hidden submission patterns. Science (2012) 2.05
Helicobacter pylori second-line rescue therapy with levofloxacin- and bismuth-containing quadruple therapy, after failure of standard triple or non-bismuth quadruple treatments. Aliment Pharmacol Ther (2015) 1.99
Evidence of early cortical atrophy in MS: relevance to white matter changes and disability. Neurology (2003) 1.94
MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett (2000) 1.82
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci (2006) 1.75
A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet (2001) 1.69
GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology (2011) 1.69
Sutureless double-patch-and-glue technique for repair of subacute left ventricular wall rupture after myocardial infarction. J Thorac Cardiovasc Surg (2001) 1.67
Requests for electromyography from general practitioners and specialists: critical evaluation. Ital J Neurol Sci (1998) 1.59
Neuropsychological and MRI measures predict short-term evolution in benign multiple sclerosis. Neurology (2009) 1.59
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet (2002) 1.56
Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity. Mov Disord (2000) 1.53
McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol (2001) 1.45
CSF levels of beta-amyloid 1-42, tau and phosphorylated tau protein in CADASIL. Eur J Neurol (2008) 1.44
Late diagnosis in severe and mild intellectual disability in adulthood. J Intellect Disabil Res (2004) 1.43
Neocortical volume decrease in relapsing-remitting MS patients with mild cognitive impairment. Neurology (2004) 1.36
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology (2004) 1.26
Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci (2010) 1.22
Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution. Am J Hum Genet (1998) 1.21
The spectrum of mutations for CADASIL diagnosis. Neurol Sci (2005) 1.21
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain (2001) 1.21
Correlates of MS disability assessed in vivo using aggregates of MR quantities. Neurology (2001) 1.20
The spectrum of Notch3 mutations in 28 Italian CADASIL families. J Neurol Neurosurg Psychiatry (2005) 1.19
Immunoturbidimetric method for routine determinations of apolipoproteins A-I and B. Clin Chem (1991) 1.19
Cognitive assessment and quantitative magnetic resonance metrics can help to identify benign multiple sclerosis. Neurology (2008) 1.19
Female paraurethral leiomyoma: ultrasonographic and magnetic resonance imaging findings. Acta Radiol (2004) 1.15
HLA class II favors clearance of HCV infection and progression of the chronic liver damage. J Hepatol (1999) 1.13
Nutritional state and energy balance in cirrhotic patients with or without hypermetabolism. Multicentre prospective study by the 'Nutritional Problems in Gastroenterology' Section of the Italian Society of Gastroenterology (SIGE). Dig Liver Dis (2005) 1.13
Cortical lesions in radiologically isolated syndrome. Neurology (2011) 1.12
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet (1997) 1.09
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. Clin Genet (2001) 1.07
Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology (2004) 1.06
The effect of zinc and vitamin A supplementation on immune response in an older population. J Am Geriatr Soc (1998) 1.04
Total parenteral nutrition-related gastroenterological complications. Dig Liver Dis (2006) 1.04
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology (2003) 1.04
Enzymic creatinine assay: a new colorimetric method based on hydrogen peroxide measurement. Clin Chem (1983) 1.03
Drinking habits of subjects with hepatitis C virus-related chronic liver disease: prevalence and effect on clinical, virological and pathological aspects. Alcohol Alcohol (2000) 1.03
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain (1998) 1.03
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. Neurology (2010) 1.03
Increased carotid intima-media thickness in patients with inflammatory bowel disease. Aliment Pharmacol Ther (2005) 1.02
Accuracy of clinical diagnostic criteria for Friedreich's ataxia. Mov Disord (2000) 1.02
MR brain imaging of fucosidosis type I. AJNR Am J Neuroradiol (2001) 1.01
Mould/dampness exposure at home is associated with respiratory disorders in Italian children and adolescents: the SIDRIA-2 Study. Occup Environ Med (2005) 1.00
Cyclic treatment of chronic hepatic encephalopathy with rifaximin. Results of a double-blind clinical study. Minerva Gastroenterol Dietol (2003) 0.99
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. AJNR Am J Neuroradiol (1994) 0.99
Brain structural damage in Friedreich's ataxia. J Neurol Neurosurg Psychiatry (2007) 0.98
A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology (2002) 0.98
Wernicke encephalopathy after gastrointestinal surgery for cancer: causes of diagnostic failure or delay. Int J Neurosci (2011) 0.97
Enhancement of doxorubicin content by the antitumor drug lonidamine in resistant Ehrlich ascites tumor cells through modulation of energy metabolism. Biochem Pharmacol (1998) 0.97
BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement. Acta Neurol Scand (1990) 0.97
Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study. J Neurol (2001) 0.97
Four novel CYP27A1 mutations in seven Italian patients with CTX. Eur J Neurol (2010) 0.96
Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism. J Neurol Sci (1993) 0.96
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology (2008) 0.96
Apoptotic response and cell cycle transition in ataxia telangiectasia cells exposed to oxidative stress. Life Sci (2000) 0.96
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. Neuromuscul Disord (2003) 0.95
Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry (2004) 0.94
Trace elements and chronic liver diseases. J Trace Elem Med Biol (1997) 0.94
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol (2002) 0.94
Early atherosclerosis in patients with inflammatory bowel disease. Eur Rev Med Pharmacol Sci (2006) 0.94
Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing. J Lipid Res (1996) 0.94
Association of MRI metrics and cognitive impairment in radiologically isolated syndromes. Neurology (2012) 0.93
Pulmonary artery leiomyosarcoma with thyroid metastases. Monaldi Arch Chest Dis (2004) 0.93
Cerebellar deficit and respiratory impairment: a strong association in multiple sclerosis? Acta Neurol Scand (2000) 0.93
Altered cerebellar functional connectivity mediates potential adaptive plasticity in patients with multiple sclerosis. J Neurol Neurosurg Psychiatry (2004) 0.92
Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. Brain Dev (1993) 0.92
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. J Neurol (2010) 0.92
Tarlov cysts: clinical evaluation of an italian cohort of patients. Neurol Sci (2013) 0.91
Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci (2001) 0.91