Published in Mov Disord on November 15, 2010
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45
Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet (2009) 2.29
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
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol (2009) 2.09
Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*. Brain (2005) 1.85
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Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet (2012) 1.68
Kick and rush: paradoxical kinesia in Parkinson disease. Neurology (2008) 1.59
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet (2013) 1.59
Cholestenoic acids regulate motor neuron survival via liver X receptors. J Clin Invest (2014) 1.55
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord (2005) 1.54
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat (2013) 1.53
The valence of action outcomes modulates the perception of one's actions. Conscious Cogn (2011) 1.52
GBA-associated PD. Neurodegeneration, altered membrane metabolism, and lack of energy failure. Neurology (2012) 1.51
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain (2013) 1.51
Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res (2009) 1.50
SNCA: major genetic modifier of age at onset of Parkinson's disease. Mov Disord (2013) 1.48
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. Neurology (2012) 1.41
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet (2013) 1.41
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Prog Neurobiol (2013) 1.40
Cortical PIB binding in Lewy body disease is associated with Alzheimer-like characteristics. Neurobiol Dis (2008) 1.39
Genetics of hereditary spastic paraplegias. Semin Neurol (2012) 1.36
Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease. Mov Disord (2005) 1.33
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet (2008) 1.33
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest (2012) 1.32
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging (2014) 1.32
SCA3: neurological features, pathogenesis and animal models. Cerebellum (2008) 1.31
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
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol (2003) 1.29
The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring. J Neurosci (2007) 1.26
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
Long-term effects of coordinative training in degenerative cerebellar disease. Mov Disord (2010) 1.16
Depression comorbidity in spinocerebellar ataxia. Mov Disord (2011) 1.15
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain (2013) 1.14
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis (2013) 1.13
Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurol (2013) 1.09
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). Eur J Hum Genet (2013) 1.09
The transcription factor PITX3 is associated with sporadic Parkinson's disease. Neurobiol Aging (2007) 1.09
S100B is increased in Parkinson's disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-α pathway. Brain (2012) 1.07
Axonal transport deficit in a KIF5A( -/- ) mouse model. Neurogenetics (2012) 1.06
The effects of COMT (Val108/158Met) and DRD4 (SNP -521) dopamine genotypes on brain activations related to valence and magnitude of rewards. Cereb Cortex (2009) 1.05
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. PLoS Genet (2012) 1.05
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology (2013) 1.05
Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord (2009) 1.04
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Ann Neurol (2002) 1.04
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci (2007) 1.04
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology (2009) 1.04
First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Ann Neurol (2010) 1.03
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging (2012) 1.02
Loss of nocturnal blood pressure fall in various extrapyramidal syndromes. Mov Disord (2009) 1.02
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain (2013) 1.00
How physicians allocate scarce resources at the bedside: a systematic review of qualitative studies. J Med Philos (2008) 0.99
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . Neurogenetics (2012) 0.99
GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study. Mov Disord (2014) 0.99
Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI. Mov Disord (2007) 0.99
Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Mov Disord (2004) 0.99
Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study. Cerebellum (2010) 0.98
ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2. PLoS One (2010) 0.98
Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology (2012) 0.98
PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol (2013) 0.97
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet (2011) 0.97
Genetic variability in the dopamine system (dopamine receptor D4, catechol-O-methyltransferase) modulates neurophysiological responses to gains and losses. Biol Psychiatry (2009) 0.97
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet (2011) 0.97
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet (2012) 0.97
Autoantibodies against amyloid and glial-derived antigens are increased in serum and cerebrospinal fluid of Lewy body-associated dementias. J Alzheimers Dis (2011) 0.94
Characterizing POLG ataxia: clinics, electrophysiology and imaging. Cerebellum (2012) 0.94
Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis. FASEB J (2012) 0.93
Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum (2012) 0.93
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. Orphanet J Rare Dis (2014) 0.93
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet (2012) 0.93
The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2010) 0.92
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry (2013) 0.92
A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet (2010) 0.92
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci (2008) 0.91
Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord (2010) 0.91
Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. Neurology (2013) 0.91
Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions. Brain Pathol (2006) 0.91
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry (2010) 0.90
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics (2008) 0.90