Publications by authors named "Ricardo Parolin Schnekenberg"

7Publications

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Am J Hum Genet 2017 Sep;101(3):451-458

Nuffield Department of Clinical Neurosciences, University of Oxford, 6th Floor West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK. Electronic address:

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September 2017

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Brain 2015 Jul 16;138(Pt 7):1817-32. Epub 2015 May 16.

4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 16 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 7LJ, UK

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July 2015

Next-generation sequencing in childhood disorders.

Arch Dis Child 2014 Mar 29;99(3):284-90. Epub 2013 Oct 29.

Wellcome Trust Centre for Human Genetics, University of Oxford, , Oxford, UK.

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March 2014