Published in J Neurol on August 30, 2013
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Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord (2009) 1.04
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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
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Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. Mov Disord (2004) 0.99
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Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet (2011) 0.97
PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol (2013) 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
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Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry (2013) 0.92
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Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord (2010) 0.91
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Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics (2008) 0.90
Mirror neurons in monkey area F5 do not adapt to the observation of repeated actions. Nat Commun (2013) 0.90
Spectrin mutations in spinocerebellar ataxia (SCA). Bioessays (2006) 0.90
Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism. Mov Disord (2010) 0.89
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Complex hyperkinetic movement disorders associated with POLG mutations. Mov Disord (2010) 0.87
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Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). J Neurol (2014) 0.87
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Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). Neurogenetics (2008) 0.87
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Hum Mol Genet (2012) 0.87
Retinal nerve fiber layer loss in multiple system atrophy. Mov Disord (2011) 0.87
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Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol (2003) 0.86
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). Orphanet J Rare Dis (2013) 0.84
Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev (2009) 0.84
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol (2014) 0.84
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol (2005) 0.84
The contribution of different cues of facial movement to the emotional facial expression adaptation aftereffect. J Vis (2013) 0.84
Baroreflex sensitivity and power spectral analysis during autonomic testing in different extrapyramidal syndromes. Mov Disord (2010) 0.84
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A Potential Role for a Genetic Variation of AKAP5 in Human Aggression and Anger Control. Front Hum Neurosci (2011) 0.82