PubRank

Marcy E MacDonald

Author PubWeight™ 106.48‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004 5.67
2 Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 2008 5.04
3 Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell 2013 4.45
4 Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron 2003 2.50
5 Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet 2012 2.45
6 Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem 2006 2.34
7 Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature 2010 2.10
8 Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 2008 2.06
9 HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum Mol Genet 2005 1.96
10 Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006 1.94
11 Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005 1.94
12 Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet 2003 1.92
13 A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet 2003 1.85
14 Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci 2006 1.72
15 Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet 2003 1.72
16 Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002 1.69
17 Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet 2002 1.67
18 Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet 2012 1.64
19 Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis 2008 1.58
20 TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J Biol Chem 2001 1.46
21 Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord 2008 1.41
22 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
23 Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci 2005 1.35
24 Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet 2009 1.32
25 Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease. Brain Pathol 2007 1.32
26 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
27 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
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
29 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
30 Huntington's disease: the case for genetic modifiers. Genome Med 2009 1.25
31 An ovine transgenic Huntington's disease model. Hum Mol Genet 2010 1.24
32 Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease. Neurobiol Dis 2006 1.22
33 Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet 2001 1.21
34 A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol 2010 1.20
35 Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-D-aspartate receptor activation in Huntington's disease knock-in striatal cells. J Biol Chem 2003 1.20
36 Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway. Hum Mol Genet 2004 1.19
37 Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics 2004 1.19
38 PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet 2002 1.19
39 Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet 2007 1.17
40 Huntingtin inhibits caspase-3 activation. EMBO J 2006 1.17
41 The serum- and glucocorticoid-induced kinase SGK inhibits mutant huntingtin-induced toxicity by phosphorylating serine 421 of huntingtin. Eur J Neurosci 2004 1.15
42 Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiol Dis 2005 1.11
43 Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease. J Biol Chem 2009 1.10
44 A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet 2012 1.09
45 Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet 2012 1.05
46 Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo. BMC Dev Biol 2005 1.04
47 HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet 2011 1.04
48 Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet A 2009 1.03
49 Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum Mol Genet 2002 1.03
50 Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice. Neurobiol Dis 2006 1.03
51 Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol 2004 1.01
52 Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. PLoS One 2011 1.01
53 Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology 2012 1.00
54 A human single-chain Fv intrabody preferentially targets amino-terminal Huntingtin's fragments in striatal models of Huntington's disease. Neurobiol Dis 2005 0.99
55 Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease. Neurobiol Dis 2006 0.95
56 Meclizine is neuroprotective in models of Huntington's disease. Hum Mol Genet 2010 0.92
57 Insoluble TATA-binding protein accumulation in Huntington's disease cortex. Brain Res Mol Brain Res 2002 0.92
58 Genetic modifiers of Huntington's disease. Mov Disord 2014 0.91
59 Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum. PLoS Genet 2011 0.91
60 Molecular investigation of TBP allele length: a SCA17 cellular model and population study. Neurobiol Dis 2003 0.90
61 Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A 2007 0.90
62 Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death. Neurobiol Dis 2012 0.90
63 A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice. PLoS One 2013 0.89
64 Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis. Hum Mol Genet 2011 0.89
65 An over-expression system for characterizing Ppt1 function in Drosophila. BMC Neurosci 2003 0.88
66 Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span. Genetics 2006 0.88
67 Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet 2011 0.87
68 Genetic analysis of the GRIK2 modifier effect in Huntington's disease. BMC Neurosci 2006 0.84
69 Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy. Hum Mol Genet 2013 0.83
70 Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat 2003 0.82
71 Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells. Chem Biol 2006 0.82
72 TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun 2012 0.81
73 The HD mutation does not alter neuronal death in the striatum of Hdh(Q92) knock-in mice after mild focal ischemia. Neurobiol Dis 2002 0.78
74 Characterization of mouse striatal precursor cell lines expressing functional dopamine receptors. Dev Neurosci 2006 0.78
75 Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler 2012 0.77
76 Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease. Mov Disord 2002 0.77
77 Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. Am J Med Genet B Neuropsychiatr Genet 2015 0.77
78 Chromosome substitution strain assessment of a Huntington's disease modifier locus. Mamm Genome 2015 0.76
79 Correction: RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. PLoS One 2016 0.75
80 Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt(Q111/+) model of Huntington's disease. Sci Rep 2017 0.75
81 Expanding the notion of disease in Huntington's disease. Biol Psychiatry 2007 0.75