Paul R. Kasher

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 943 citations

Life Sciences, Genetics, Molecular Genetics +9

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan et al. · Cell · 2014 · 283 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, P. G. Barth, Paul R. Kasher et al. · Brain · 2010 · 223 citations · Full text

Life Sciences, Genetics, Neurology +11

Microarray Analysis of the Cellular Pathways Involved in the Adaptation to and Progression of Motor Neuron Injury in the SOD1 G93A Mouse Model of Familial ALS

Laura Ferraiuolo, Paul R. Heath, Hazel M. Holden et al. · Journal of Neuroscience · 2007 · 199 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17