Published in Brain on February 18, 2013
Functional and Structural Imaging and Motor Control in Spinocerebellar Ataxia (SCA) | NCT02488031
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PML in a patient treated with fumaric acid. N Engl J Med (2013) 3.87
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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet (2010) 2.66
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Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet (2009) 2.29
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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
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet (2002) 2.17
Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice. Mol Cell Biol (2004) 2.15
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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet (2011) 2.10
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet (2013) 2.10
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Progressive cognitive dysfunction in spinocerebellar ataxia type 3. Mov Disord (2013) 2.09
Pre-fibrillar alpha-synuclein variants with impaired beta-structure increase neurotoxicity in Parkinson's disease models. EMBO J (2009) 2.09
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet (2006) 2.09
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One (2008) 2.08
Variability in outcome and resource use in intensive care units. Intensive Care Med (2007) 2.04
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Epidemiology of mechanical ventilation: analysis of the SAPS 3 database. Intensive Care Med (2009) 1.88
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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
Impact of body mass on incidence and prognosis of acute kidney injury requiring renal replacement therapy. Intensive Care Med (2010) 1.83
Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series. J Neurol (2013) 1.82
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain (2003) 1.82
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
Genome-wide comparison of medieval and modern Mycobacterium leprae. Science (2013) 1.81
Postural and gait performance in children with attention deficit/hyperactivity disorder. Gait Posture (2008) 1.81
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REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol (2013) 1.77
Cellular pathology of Parkinson's disease: astrocytes, microglia and inflammation. Cell Tissue Res (2004) 1.76
Red flags for multiple system atrophy. Mov Disord (2008) 1.75
Postural deformities in Parkinson's disease. Lancet Neurol (2011) 1.73
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol (2007) 1.72
Movement disorders in spinocerebellar ataxias. Mov Disord (2011) 1.72
Short and long-term motor skill learning in an accelerated rotarod training paradigm. Neurobiol Learn Mem (2004) 1.72
Neuroprotection by hypoxic preconditioning requires sequential activation of vascular endothelial growth factor receptor and Akt. J Neurosci (2002) 1.72
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol (2012) 1.70
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
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Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain (2003) 1.68
Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease. J Neurosci (2005) 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
Efficient inhibition of the Alzheimer's disease beta-secretase by membrane targeting. Science (2008) 1.67
Transgenic rat model of Huntington's disease. Hum Mol Genet (2003) 1.66
Serial MRI of limbic encephalitis. Neuroradiology (2006) 1.63
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain (2008) 1.63
End-of-life practices in 282 intensive care units: data from the SAPS 3 database. Intensive Care Med (2008) 1.62
Protection by pioglitazone in the MPTP model of Parkinson's disease correlates with I kappa B alpha induction and block of NF kappa B and iNOS activation. J Neurochem (2004) 1.61
Kick and rush: paradoxical kinesia in Parkinson disease. Neurology (2008) 1.59