DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

(2015) Jose Bras et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA Triplet Repeat Expansion and Mismatch Repair

(2015) Ravi R. Iyer et al.   Annual Review of Biochemistry

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease

(2015) Helen Budworth et al.   PLoS Genetics

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

(2014) Sophie Tezenas du Montcel et al.   BRAIN

Personalised cancer medicine

(2014) Sarah E. Jackson et al.   INTERNATIONAL JOURNAL OF CANCER

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

The APOE ε2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population

(2014) Huirong Peng et al.   NEUROBIOLOGY OF AGING

DNA Damage and Its Links to Neurodegeneration

(2014) Ram Madabhushi et al.   NEURON

Genetic Cerebellar Ataxias

(2014) Elsdon Storey   SEMINARS IN NEUROLOGY

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions

(2013) M. Ambrose et al.   BLOOD

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

(2013) Amanda G. Mason et al.   HUMAN MOLECULAR GENETICS

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

(2013) Sarah J Tabrizi et al.   LANCET NEUROLOGY

The ATM protein kinase: regulating the cellular response to genotoxic stress and more

(2013) Yosef Shiloh et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Role of Interruptions in polyQ in the Pathology of SCA1

(2013) Rajesh P. Menon et al.   PLoS Genetics

MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice

(2013) Stéphanie Tomé et al.   PLoS Genetics

Power and Predictive Accuracy of Polygenic Risk Scores

(2013) Frank Dudbridge   PLoS Genetics

The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease

(2011) Conceição Bettencourt   ARCHIVES OF NEUROLOGY

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage

(2009) Janelle L. Harris et al.   HUMAN MOLECULAR GENETICS

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

Stoichiometry of Base Excision Repair Proteins Correlates with Increased Somatic CAG Instability in Striatum over Cerebellum in Huntington's Disease Transgenic Mice

(2009) Agathi-Vassiliki Goula et al.   PLoS Genetics

The role of the DNA damage response in neuronal development, organization and maintenance

(2008) Ari Barzilai et al.   DNA REPAIR

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

(2008) Ella Dragileva et al.   NEUROBIOLOGY OF DISEASE

DNA instability in postmitotic neurons

(2008) R. Gonitel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA