Published in Am J Med Genet A on January 01, 2011
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Anticipatory postural adjustments in a bimanual load-lifting task in children with developmental coordination disorder. Dev Med Child Neurol (2010) 1.43
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SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst (2006) 1.38
Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J Neurosci (2004) 1.38
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med (2012) 1.35
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Mol Genet Metab (2009) 1.35
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VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
Gene therapy of the brain in the dog model of Hurler's syndrome. Ann Neurol (2006) 1.32
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis (2008) 1.32
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MRI prognostic factors for relapse after acute CNS inflammatory demyelination in childhood. Brain (2004) 1.31
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. PLoS One (2008) 1.30
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Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther (2010) 1.23
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