Published in Hum Mol Genet on February 13, 2010
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Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage. Hum Mol Genet (2007) 2.54
Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron (2003) 2.50
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Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem (2006) 2.34
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proc Natl Acad Sci U S A (2013) 2.21
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet (2011) 2.12
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature (2010) 2.10
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Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway. Mol Cell Biol (2009) 2.06
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum Mol Genet (2005) 1.96
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol (2006) 1.94
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet (2005) 1.94
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet (2003) 1.92
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet (2003) 1.85
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol (2009) 1.78
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci (2004) 1.75
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Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet (2003) 1.72
Population-specific expression analysis (PSEA) reveals molecular changes in diseased brain. Nat Methods (2011) 1.70
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet (2002) 1.67
A role for human brain pericytes in neuroinflammation. J Neuroinflammation (2014) 1.64
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
DNA instability in postmitotic neurons. Proc Natl Acad Sci U S A (2008) 1.61
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis (2008) 1.58
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Localization of Parkinson's disease-associated LRRK2 in normal and pathological human brain. Brain Res (2007) 1.50
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
The genetics of hyperekplexia: more than startle! Trends Genet (2008) 1.49
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J Biol Chem (2001) 1.46
Weight change associated with antiepileptic drugs. J Neurol Neurosurg Psychiatry (2012) 1.43
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord (2008) 1.41
Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet (2002) 1.41
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain (2013) 1.40
Paradoxical delay in the onset of disease caused by super-long CAG repeat expansions in R6/2 mice. Neurobiol Dis (2008) 1.38
Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci (2005) 1.35
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet (2010) 1.35
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm (2008) 1.33
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. J Neurosci (2010) 1.33
Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet (2009) 1.32
Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease. Brain Pathol (2007) 1.32
Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice. Hum Mol Genet (2006) 1.32
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet (2006) 1.30
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30
The effect of neurodegenerative diseases on the subventricular zone. Nat Rev Neurosci (2007) 1.28
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci (2004) 1.27
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet (2003) 1.26
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet (2006) 1.26
Huntington's disease: the case for genetic modifiers. Genome Med (2009) 1.25
Assessment of the relationship between pre-chip and post-chip quality measures for Affymetrix GeneChip expression data. BMC Bioinformatics (2006) 1.24
The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor. BMC Neurosci (2002) 1.24
Genomewide association study for onset age in Parkinson disease. BMC Med Genet (2009) 1.24
Distinct neuroinflammatory profile in post-mortem human Huntington's disease. Neuroreport (2009) 1.23