Locus-specific mutation databases for neurodegenerative brain diseases

Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations

(2012) Joanne E. Martindale et al.   HUMAN MUTATION

Ontological phenotype standards for neurogenetics

(2012) Sebastian Köhler et al.   HUMAN MUTATION

Developing the “next generation” of genetic association databases for complex diseases

(2012) Christina M. Lill et al.   HUMAN MUTATION

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

(2012) Christina M. Lill et al.   PLoS Genetics

An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research

(2011) Adam J. Webb et al.   HUMAN MUTATION

Database resources of the National Center for Biotechnology Information

(2011) E. W. Sayers et al.   NUCLEIC ACIDS RESEARCH

A novel ATP-dependent conformation in p97 N–D1 fragment revealed by crystal structures of disease-related mutants

(2010) Wai Kwan Tang et al.   EMBO JOURNAL

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

(2010) Karen Nuytemans et al.   HUMAN MUTATION

genenames.org: the HGNC resources in 2011

(2010) R. L. Seal et al.   NUCLEIC ACIDS RESEARCH

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

(2009) F. Clot et al.   BRAIN

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

(2009) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS

A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

(2009) G. Di Fede et al.   SCIENCE

Molecular genetics of Alzheimer's disease: An update

(2008) Nathalie Brouwers et al.   ANNALS OF MEDICINE

The Aging Brain

(2008) Bruce A. Yankner et al.   Annual Review of Pathology-Mechanisms of Disease

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update

(2008) I. Gijselinck et al.   HUMAN MUTATION

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

(2008) Rita Joao Guerreiro et al.   NEUROBIOLOGY OF AGING

NCBI Reference Sequences: current status, policy and new initiatives

(2008) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH