publication venue for
- Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight.. 31:1762-1775. 2022
- A multiethnic whole genome sequencing study to identify novel loci for bone mineral density.. 31:1067-1081. 2022
- Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease.. 31:423-439. 2022
- A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.. 28:2615-2633. 2019
- GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.. 28:1594-1607. 2019
- Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.. 28:675-687. 2019
- Behavioral and transcriptomic analysis of Trem2-null mice: not all knockout mice are created equal.. 27:211-223. 2018
- Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.. 26:4588-4605. 2017
- LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease.. 26:4340-4351. 2017
- APOE ε4/ε4 diminishes neurotrophic function of human iPSC-derived astrocytes.. 26:2690-2700. 2017
- Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.. 25:5234-5243. 2016
- Common variants in DRD2 are associated with sleep duration: the CARe consortium.. 25:167-79. 2015
- Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.. 24:3908-17. 2015
- Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.. 24:3582-94. 2015
- Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.. 23:6684-93. 2014
- Competing targets of microRNA-608 affect anxiety and hypertension.. 23:4569-80. 2014
- Meta-analysis of loci associated with age at natural menopause in African-American women.. 23:3327-42. 2014
- Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.. 23:3054-68. 2014
- Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily.. 23:2055-77. 2013
- Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.. 23:1957-63. 2013
- Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.. 23:1606-18. 2013
- Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.. 22:5107-20. 2013
- Methylomics of gene expression in human monocytes.. 22:5065-74. 2013
- The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.. 22:3583-96. 2013
- Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.. 22:890-903. 2012
- Neurodegenerative phenotypes in an A53T α-synuclein transgenic mouse model are independent of LRRK2.. 21:2420-31. 2012
- Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease.. 21:4558-71. 2012
- Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.. 21:1099-110. 2011
- Transcriptional responses to loss or gain of function of the leucine-rich repeat kinase 2 (LRRK2) gene uncover biological processes modulated by LRRK2 activity.. 21:163-74. 2011
- Inhibitors of LRRK2 kinase attenuate neurodegeneration and Parkinson-like phenotypes in Caenorhabditis elegans and Drosophila Parkinson's disease models.. 20:3933-42. 2011
- Absence of disturbed axonal transport in spinal and bulbar muscular atrophy.. 20:1776-86. 2011
- Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies.. 19:2754-66. 2010
- Molecular genetic advances in neurological disease: special review issue.. 19:R1-3. 2010
- Synphilin-1 attenuates neuronal degeneration in the A53T alpha-synuclein transgenic mouse model.. 19:2087-98. 2010
- Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology.. 19:313-28. 2009
- Autophagy-mediated clearance of aggresomes is not a universal phenomenon.. 17:2570-82. 2008
- Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets.. 17:1318-28. 2008
- Lysine 63-linked ubiquitination promotes the formation and autophagic clearance of protein inclusions associated with neurodegenerative diseases.. 17:431-9. 2007
- Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.. 16:1593-603. 2007
- Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.. 16:223-32. 2007
- Beta-synuclein modulates alpha-synuclein neurotoxicity by reducing alpha-synuclein protein expression.. 15:3002-11. 2006
- Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy.. 15:2225-38. 2006
- Stress-induced alterations in parkin solubility promote parkin aggregation and compromise parkin's protective function.. 14:3885-97. 2005
- Endoplasmic reticulum stress and mitochondrial cell death pathways mediate A53T mutant alpha-synuclein-induced toxicity.. 14:3801-11. 2005
- Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.. 14:2571-86. 2005
- Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress.. 14:71-84. 2004
- CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation.. 13:703-14. 2004
- Strand bias in oligonucleotide-mediated dystrophin gene editing.. 14:221-33. 2004
- Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.. 13:53-67. 2003
- Intramembrane-cleaving aspartic proteases and disease: presenilins, signal peptide peptidase and their homologs.. R201-6. 2003
- Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.. 12:41-50. 2003
- Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping.. 12:1087-99. 2003
- Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects.. 11:1927-37. 2002
- Identification of a novel family of presenilin homologues.. 11:1037-44. 2002
- Inducible expression of mutant alpha-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis.. 10:919-26. 2001
- Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.. 7:959-67. 1998
- Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture.. 7:783-90. 1998
- mdx muscle pathology is independent of nNOS perturbation.. 7:823-9. 1998
- A multiethnic whole genome sequencing study to identify novel loci for bone mineral density 2022