Concepedia

Susan E Tomlinson

SE

7

Publications

373

Citations

7

H-Index

2010

Active since

Affiliations

The University of Sydney(Current)

St Vincent's Hospital Sydney

University College London

National Hospital for Neurology and Neurosurgery

Royal Prince Alfred Hospital

Susan E Tomlinson is an author at The University of Sydney specializing in neurology, medicine, and electrophysiology.

Top concepts

Publications per year

2010–2022

7

Publications

7

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 159 citations · Full text

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Nerve excitability studies characterize KV1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1

Susan E Tomlinson, S. Veronica Tan, Dimitri M. Kullmann et al. · Brain · 2010 · 95 citations · Full text

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

Susan E Tomlinson, Sanjeev Rajakulendran, S. Veronica Tan et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 49 citations · Full text

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission

Susan E Tomlinson, Hugh Bostock, Bronwyn E. Grinton et al. · Brain · 2012 · 19 citations · Full text

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

Robert D. S. Pitceathly, Susan E Tomlinson, Iain P. Hargreaves et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 19 citations

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