Title	Publication Date	Language	Citations
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes	1997/10/01	English	477
Decreased expression of striatal signaling genes in a mouse model of Huntington's disease	2000/05/22		477
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum Mol Genet 1999 May;8(5):943]	1999/03/01		476
SDHA is a tumor suppressor gene causing paraganglioma	2010/05/18	English	471
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation	2004/01/28	English	470
Dominant phenotypes produced by the HD mutation in STHdhQ111 striatal cells	2000/11/01		469
Molecular mechanisms of neurodegeneration in Alzheimer's disease	2010/04/15	English	463
Rapamycin alleviates toxicity of different aggregate-prone proteins	2005/12/20	English	459
Recurrent 16p11.2 microdeletions in autism	2007/11/07	English	453
Epigenetic gene silencing in cancer: the DNA hypermethylome	2007/04/15	English	453
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN	2005/02/09	English	452
The allelic architecture of human disease genes: common disease-common variant... or not?	2002/10/01		450
DNA methylation represses FMR-1 transcription in fragile X syndrome	1992/01/01	English	448
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk	2005/09/20	English	448
Impaired mitochondrial biogenesis, defective axonal transport of mitochondria, abnormal mitochondrial dynamics and synaptic degeneration in a mouse model of Alzheimer's disease	2011/08/25	English	442
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition	2001/03/01		442
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy	2000/01/01		439
Novel genes identified in a high-density genome wide association study for nicotine dependence	2006/12/07	English	432
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells	2001/02/01		427
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice	2004/09/06	English	417
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity	2007/01/02	English	417
Excess of High Activity Monoamine Oxidase A Gene Promoter Alleles in Female Patients with Panic Disorder	1999/04/01	English	413
BRCA1 and BRCA2 and the genetics of breast and ovarian cancer	2001/04/01		412
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation	1998/03/01		408
Modeling familial Alzheimer's disease with induced pluripotent stem cells	2011/09/07	English	403
Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing	2009/08/04	English	403
Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans	1997/09/01		402
A genome-wide scan for common alleles affecting risk for autism	2010/07/27	English	401
Isolation of a Candidate Human Telomerase Catalytic Subunit Gene, Which Reveals Complex Splicing Patterns in Different Cell Types	1997/11/01	English	401
Cancer risk associated with germline DNA mismatch repair gene mutations	1997/01/01		397