Spinocerebellar ataxia with axonal neuropathy type 1 revisited

The cerebellar cognitive affective syndrome

Jeremy D. Schmahmann · Brain · 1998 · 3.2K citations · Full text

Life Sciences, Neurology, Neuroscience +17

The Raven's Progressive Matrices: Change and Stability over Culture and Time

John Raven · Cognitive Psychology · 2000 · 1.6K citations

Social Sciences, Sociology, Culture +2

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Hiroshi Takashima, Cornelius F. Boerkoel, Joy John et al. · Nature Genetics · 2002 · 526 citations

Life Sciences, Genetics, Molecular Biology +15

wANNOVAR: annotating genetic variants for personal genomes via the web

Xiao Chang, Kai Wang · Journal of Medical Genetics · 2012 · 461 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

Sherif F. El‐Khamisy, Gulam Mustafa Saifi, Michael Weinfeld et al. · Nature · 2005 · 419 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +16