Published in Cerebellum on June 01, 2010
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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
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Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet (2013) 2.10
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Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet (2010) 1.95
The nuclear receptor PPAR gamma selectively inhibits Th17 differentiation in a T cell-intrinsic fashion and suppresses CNS autoimmunity. J Exp Med (2009) 1.95
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Consensus paper: roles of the cerebellum in motor control--the diversity of ideas on cerebellar involvement in movement. Cerebellum (2012) 1.92
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Thymosin beta4 mediated PKC activation is essential to initiate the embryonic coronary developmental program and epicardial progenitor cell activation in adult mice in vivo. J Mol Cell Cardiol (2009) 1.88
Spatial remapping of cortico-striatal connectivity in Parkinson's disease. Cereb Cortex (2009) 1.88
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol (2006) 1.87
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature (2011) 1.87
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet (2009) 1.85
Cerebrospinal fluid amyloid beta42/phosphorylated tau ratio discriminates between Alzheimer's disease and vascular dementia. J Gerontol A Biol Sci Med Sci (2006) 1.85
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Postural and gait performance in children with attention deficit/hyperactivity disorder. Gait Posture (2008) 1.81
Nonsteroidal anti-inflammatory drugs repress beta-secretase gene promoter activity by the activation of PPARgamma. Proc Natl Acad Sci U S A (2006) 1.81
Neurological gait disorders in elderly people: clinical approach and classification. Lancet Neurol (2007) 1.80
The "posture second" strategy: a review of wrong priorities in Parkinson's disease. J Neurol Sci (2006) 1.78
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G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol (2013) 1.77
Gait-related cerebral alterations in patients with Parkinson's disease with freezing of gait. Brain (2010) 1.76
Red flags for multiple system atrophy. Mov Disord (2008) 1.75
Postural deformities in Parkinson's disease. Lancet Neurol (2011) 1.73
Movement disorders in spinocerebellar ataxias. Mov Disord (2011) 1.72
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol (2007) 1.72
Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol (2004) 1.72
The clinical utility of posturography. Clin Neurophysiol (2008) 1.70
Tracing past human male movements in northern/eastern Africa and western Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12. Mol Biol Evol (2007) 1.69
Neuropsychological features of patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. Cerebellum (2010) 1.69
Sleep attacks, daytime sleepiness, and dopamine agonists in Parkinson's disease. Mov Disord (2003) 1.69
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
Contribution of inflammatory processes to Alzheimer's disease: molecular mechanisms. Int J Dev Neurosci (2006) 1.68
Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain (2003) 1.68
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet (2010) 1.67
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain (2010) 1.67
Cerebrospinal fluid amyloid-β and phenotypic heterogeneity in de novo Parkinson's disease. J Neurol Neurosurg Psychiatry (2012) 1.66
Serial MRI of limbic encephalitis. Neuroradiology (2006) 1.63
Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial. Lancet Neurol (2012) 1.61
Integrated multidisciplinary care in Parkinson's disease: a non-randomised, controlled trial (IMPACT). Lancet Neurol (2013) 1.60
Molecular pathogenesis of spinocerebellar ataxias. Brain (2006) 1.59
Kick and rush: paradoxical kinesia in Parkinson disease. Neurology (2008) 1.59
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations. Mov Disord (2007) 1.58
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. PLoS One (2010) 1.58
Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients. Mov Disord (2007) 1.58
Promotion of physical activity and fitness in sedentary patients with Parkinson's disease: randomised controlled trial. BMJ (2013) 1.57
Nonsteroidal anti-inflammatory drugs and peroxisome proliferator-activated receptor-gamma agonists modulate immunostimulated processing of amyloid precursor protein through regulation of beta-secretase. J Neurosci (2003) 1.56
Moving from physician-centered care towards patient-centered care for Parkinson's disease patients. Parkinsonism Relat Disord (2013) 1.55
Cholestenoic acids regulate motor neuron survival via liver X receptors. J Clin Invest (2014) 1.55
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. J Neurol Neurosurg Psychiatry (2013) 1.55
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Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord (2005) 1.54
G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol (2005) 1.54