Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum.

PubWeight™: 0.84‹?›

🔗 View Article (PMID 9808240)

Published in J Neurol on November 01, 1998

Authors

M T Dotti1, S Mondillo, K Plewnia, E Agricola, A Federico

Author Affiliations

1: University of Siena, Institute of Neurological Sciences, Unit of Neurometabolic Diseases, Italy. dotti@unisi.it

Articles by these authors

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

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

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

The role of 3D and speckle tracking echocardiography in cardiac amyloidosis: a case report. Eur Rev Med Pharmacol Sci (2014) 1.37

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

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

Cognitive assessment and quantitative magnetic resonance metrics can help to identify benign multiple sclerosis. Neurology (2008) 1.19

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

Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology (2004) 1.06

Total parenteral nutrition-related gastroenterological complications. Dig Liver Dis (2006) 1.04

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology (2003) 1.04

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

Comparison between a cisplatin-containing regimen and a carboplatin-containing regimen for recurrent or metastatic bladder cancer patients. A randomized phase II study. Cancer (1996) 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

Negative stress echo: further prognostic stratification with assessment of pressure-volume relation. Int J Cardiol (2007) 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

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

The "clover technique" as a novel approach for correction of post-traumatic tricuspid regurgitation. J Thorac Cardiovasc Surg (2003) 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

Epidemiology of pertussis in Italy: disease trends over the last century. Euro Surveill (2014) 0.96

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology (2008) 0.96

Four novel CYP27A1 mutations in seven Italian patients with CTX. Eur J Neurol (2010) 0.96

Correlation between left atrial size, prothrombotic state and markers of endothelial dysfunction in patients with lone chronic nonrheumatic atrial fibrillation. Int J Cardiol (2000) 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

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing. J Lipid Res (1996) 0.94

Weekly chemotherapy in advanced prostatic cancer. Br J Cancer (1993) 0.93

A new silybin-vitamin E-phospholipid complex improves insulin resistance and liver damage in patients with non-alcoholic fatty liver disease: preliminary observations. Gut (2006) 0.93

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. Brain Dev (1993) 0.92

Altered cerebellar functional connectivity mediates potential adaptive plasticity in patients with multiple sclerosis. J Neurol Neurosurg Psychiatry (2004) 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

A case of hepatotoxicity caused by green tea. Free Radic Biol Med (2007) 0.91

Chronic progressive leptomeningitis associated with measles virus. Lancet (1997) 0.91

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology (2001) 0.91

Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. J Neurol Neurosurg Psychiatry (2008) 0.90

Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren). Acta Neuropathol (1999) 0.90

Retracted High-mobility group A1 protein inhibits p53-mediated intrinsic apoptosis by interacting with Bcl-2 at mitochondria. Cell Death Dis (2012) 0.89

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet (1995) 0.89

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report). J Neurol Neurosurg Psychiatry (1990) 0.88

Selective ipsilateral neuromuscular involvement in a case of facial and somatic hemiatrophy. Muscle Nerve (1997) 0.87

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts. Am J Med Genet (1998) 0.87

Non-alcoholic fatty liver disease: a multicentre clinical study by the Italian Association for the Study of the Liver. Dig Liver Dis (2004) 0.87

Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity. Am J Med Genet (1992) 0.87

Familial lead poisoning from contaminated wine. Ital J Neurol Sci (1981) 0.87

Alteration of haemostasis in non-metastatic gastric cancer. Dig Liver Dis (2001) 0.87

Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy. Neurology (2007) 0.86

Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings. J Inherit Metab Dis (2001) 0.86

Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835. J Submicrosc Cytol Pathol (1999) 0.86

Diagnostic value of ultrastructural skin biopsy studies in CADASIL. Neurology (2007) 0.86

Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing. Dev Neurosci (1991) 0.86

Exercise-induced bilateral anterior tibial compartment syndrome without pain. Ital J Neurol Sci (1986) 0.85

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. J Neurol Sci (2008) 0.85

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. Hum Mutat (2001) 0.85

Relationship of blood trace elements to liver damage, nutritional status, and oxidative stress in chronic nonalcoholic liver disease. Biol Trace Elem Res (2001) 0.85

Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in a MELAS case and in a 25-week-old miscarried fetus. J Neurol (2000) 0.85

Polarographic analyses of subsarcolemmal and intermyofibrillar mitochondria from rat skeletal and cardiac muscle. J Neurol Sci (1995) 0.84

The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci (2006) 0.84

Chronic cerebro-spinal venous insufficiency (CCSVI) and multiple sclerosis. Neurol Sci (2010) 0.84

The treatment of NAFLD. Eur Rev Med Pharmacol Sci (2005) 0.84

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. Neurol Sci (2005) 0.84

Myocardial findings in fatal carbon monoxide poisoning: a human and experimental morphometric study. Int J Legal Med (2000) 0.84

Functional reorganization of motor cortex increases with greater axonal injury from CADASIL. Stroke (2002) 0.83

Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome. J Neurol (1999) 0.83

Normal rhodanese activity in leukocytes from Leber patients: enzyme characterization and activity levels. Neurology (1987) 0.83

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. J Neurol (2012) 0.83

Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis. J Lipid Res (1996) 0.83

Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy. J Submicrosc Cytol Pathol (1996) 0.83

Recurrent venous thrombosis including cerebral venous sinus thrombosis in a patient taking sildenafil for erectile dysfunction. J Neurol Sci (2007) 0.83

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. J Neurol Neurosurg Psychiatry (1996) 0.83

Alcoholic beverages and gastric epithelial cell viability: effect on oxidative stress-induced damage. J Physiol Pharmacol (2009) 0.83

Acute inflammatory neuropathy in Charcot-Marie-Tooth disease. Neurology (1999) 0.83