Tom Cullup

ABCA12 Is the Major Harlequin Ichthyosis Gene

Anna Thomas, Tom Cullup, Elizabeth E. Norgett et al. · Journal of Investigative Dermatology · 2006 · 114 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

S. Robb, Caroline A. Sewry, James J. Dowling et al. · Neuromuscular Disorders · 2011 · 110 citations

Mitochondrial Myopathy, Neuromusculoskeletal Disorder, Neuromuscular Junction +13

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

Pinki Munot, Daniel Lashley, Heinz Jungbluth et al. · Neuromuscular Disorders · 2010 · 64 citations

Developmental Biology, Genetic Disorder, Genetics +4

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

Heinz Jungbluth, Tom Cullup, Suzanne Lillis et al. · Neuromuscular Disorders · 2009 · 40 citations

Ocular Disease, Ophthalmology, Pathology +4

A novel <i>ABCA12</i> mutation underlying a case of Harlequin ichthyosis

S. F. Rajpar, Tom Cullup, David P. Kelsell et al. · British Journal of Dermatology · 2006 · 19 citations

Biology, Mendelian Disorder, Genetic Disorder +6