Nick Gutowski

LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition

J.Michael Frangiskakis, Amanda K. Ewart, Colleen A. Morris et al. · Cell · 1996 · 561 citations · Full text

Life Sciences, Neuroscience, Psychology +11

Human <i>CHN1</i> Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

Noriko Miyake, John K. Chilton, Maria Psatha et al. · Science · 2008 · 177 citations · Full text

Life Sciences, Genetics, Neuroscience +17

110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs)

Nick Gutowski, Thomas M. Bosley, Elizabeth C. Engle · Neuromuscular Disorders · 2003 · 169 citations · Full text

Medicine, Neurobiology, Neuroscience +14

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

Malcolm J. Proudfoot, Nick Gutowski, Dieter Edbauer et al. · Acta Neuropathologica · 2014 · 77 citations

Life Sciences, Genetics, Neurology +13

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31

Julie Evans, Timothy M. Frayling, Sian Ellard et al. · Human Genetics · 2000 · 57 citations

Life Sciences, Genetics, Molecular Genetics +7