Published in Ann Neurol on July 01, 2003
Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. BMC Mol Biol (2009) 0.86
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85
Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. J Neurol (2012) 0.83
SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications. Hum Genet (2009) 0.77
Seeking clarity through the genetic lens: a work in progress. Ann Neurol (2003) 0.75
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Mortality after surgery in Europe: a 7 day cohort study. Lancet (2012) 9.96
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Minimal changes of serum creatinine predict prognosis in patients after cardiothoracic surgery: a prospective cohort study. J Am Soc Nephrol (2004) 7.79
SAPS 3--From evaluation of the patient to evaluation of the intensive care unit. Part 2: Development of a prognostic model for hospital mortality at ICU admission. Intensive Care Med (2005) 4.66
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol (2004) 3.83
SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55
Acute kidney injury in critically ill patients classified by AKIN versus RIFLE using the SAPS 3 database. Intensive Care Med (2009) 3.20
A draft genome of Yersinia pestis from victims of the Black Death. Nature (2011) 3.18
SAPS 3--From evaluation of the patient to evaluation of the intensive care unit. Part 1: Objectives, methods and cohort description. Intensive Care Med (2005) 2.84
Prevention of atrial fibrillation after cardioversion: results of the PAFAC trial. Eur Heart J (2004) 2.78
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet (2005) 2.59
Impact of minimal increases in serum creatinine on outcome in patients after cardiothoracic surgery: do we have to revise current definitions of acute renal failure? Crit Care Med (2008) 2.51
Errors in administration of parenteral drugs in intensive care units: multinational prospective study. BMJ (2009) 2.46
Progression-specific genes identified by expression profiling of matched ductal carcinomas in situ and invasive breast tumors, combining laser capture microdissection and oligonucleotide microarray analysis. Cancer Res (2006) 2.36
Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet (2005) 2.28
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol (2013) 2.24
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol (2009) 2.09
Variability in outcome and resource use in intensive care units. Intensive Care Med (2007) 2.04
14-3-3 proteins in the nervous system. Nat Rev Neurosci (2003) 2.02
Incidence and prognosis of dysnatremias present on ICU admission. Intensive Care Med (2009) 1.97
The German hospital malnutrition study. Clin Nutr (2006) 1.93
Epidemiology of mechanical ventilation: analysis of the SAPS 3 database. Intensive Care Med (2009) 1.88
Impact of body mass on incidence and prognosis of acute kidney injury requiring renal replacement therapy. Intensive Care Med (2010) 1.83
Genome-wide comparison of medieval and modern Mycobacterium leprae. Science (2013) 1.81
Testing and estimation in flexible group sequential designs with adaptive treatment selection. Stat Med (2005) 1.80
Parkinson patient fibroblasts show increased alpha-synuclein expression. Exp Neurol (2008) 1.79
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain (2009) 1.66
Transgenic rat model of Huntington's disease. Hum Mol Genet (2003) 1.66
Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. PLoS One (2010) 1.62
End-of-life practices in 282 intensive care units: data from the SAPS 3 database. Intensive Care Med (2008) 1.62
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat (2010) 1.59
Suppression of paroxysmal atrial tachyarrhythmias--results of the SOPAT trial. Eur Heart J (2004) 1.58
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord (2005) 1.54
Prevalence and prognosis of COPD in critically ill patients between 1998 and 2008. Eur Respir J (2012) 1.46
Subjective memory complaints and objective memory impairment in the Vienna-Transdanube aging community. J Am Geriatr Soc (2004) 1.45
Patient volume affects outcome in critically ill patients. Wien Klin Wochenschr (2009) 1.45
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet (2005) 1.44
Patient safety in intensive care: results from the multinational Sentinel Events Evaluation (SEE) study. Intensive Care Med (2006) 1.39
Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci (2007) 1.34
Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease. Mov Disord (2005) 1.33
Reliability of a standardized reading chart system: variance component analysis, test-retest and inter-chart reliability. Graefes Arch Clin Exp Ophthalmol (2003) 1.33
Incidence and prognosis of early hepatic dysfunction in critically ill patients--a prospective multicenter study. Crit Care Med (2007) 1.31
SCA3: neurological features, pathogenesis and animal models. Cerebellum (2008) 1.31
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat (2009) 1.30
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage (2009) 1.29
Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease. Proc Natl Acad Sci U S A (2004) 1.29
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol (2003) 1.29
Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease. J Neurosci (2008) 1.28
The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring. J Neurosci (2007) 1.26
Sepsis mortality prediction based on predisposition, infection and response. Intensive Care Med (2007) 1.26
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke (2013) 1.25
Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease. Hum Mol Genet (2006) 1.25
Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum Mol Genet (2008) 1.23
Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis. Hum Mol Genet (2010) 1.22
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat (2004) 1.22
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet (2003) 1.22
Riluzole in Huntington's disease: a 3-year, randomized controlled study. Ann Neurol (2007) 1.21
A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat (2005) 1.19
An adaptive hierarchical test procedure for selecting safe and efficient treatments. Biom J (2006) 1.19
Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease. Clin Gastroenterol Hepatol (2005) 1.17
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet (2005) 1.17
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat (2010) 1.17
Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes. J Neurosci (2010) 1.15
How nutritional risk is assessed and managed in European hospitals: a survey of 21,007 patients findings from the 2007-2008 cross-sectional nutritionDay survey. Clin Nutr (2010) 1.15
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord (2008) 1.14
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain (2013) 1.14
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab (2005) 1.14
Two-stage designs for experiments with a large number of hypotheses. Bioinformatics (2005) 1.13
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis (2013) 1.13
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis (2011) 1.12
Assessment of simple movements reflects impairment in Huntington's disease. Mov Disord (2006) 1.11
Assessment of complex movements reflects dysfunction in Huntington's disease. J Neurol (2003) 1.10
14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta. Brain Res Mol Brain Res (2002) 1.09
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol (2007) 1.08
Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. Hum Mol Genet (2009) 1.07
Sex differences in a transgenic rat model of Huntington's disease: decreased 17beta-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males. Hum Mol Genet (2008) 1.07
A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats. Brain (2013) 1.07
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics (2005) 1.06
High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. Breast Cancer Res Treat (2009) 1.05