Publications by authors named "Penelope J Spring"

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Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.
Bianca R Grosz, Melina Ellis, Shuchi Trivedi, Carolin Scriba, Marion Stoll, Penelope J Spring

J Peripher Nerv Syst· December 2025

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Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome.
James D Triplett, Jessica Qiu, Billy O'Brien, Sumana Gopinath, Benjamin Trewin, Penelope J Spring

Eur J Neurol· June 2022

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The neuro-otology of Susac syndrome.
Todd A Hardy, Rachael L Taylor, Jessica Qiu, Billy O'Brien, Sumana Gopinath, Penelope J Spring

J Neurol· December 2020

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RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kishore R Kumar, Andrea Cortese, Susan E Tomlinson, Stephanie Efthymiou, Melina Ellis, Penelope J Spring

Brain· October 2020

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Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia mimicking systemic lupus erythematosus cerebral vasculitis.
Michal Lubomski, Michael E Buckland, Joanne Sy, Heng Wei, Irene Yew Lan Tan, Penelope J Spring

J Neurol Sci· December 2018

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Encephalopathy after chocolate consumption.
Amy Kunchok, Penelope J Spring, Michael W Hayes

Med J Aust· February 2018

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Myosin storage (hyaline body) myopathy: a case report.
Meena V Shingde, Penelope J Spring, Adam Maxwell, Edward J Wills, Clive G Harper

Neuromuscul Disord· December 2006

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Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.
Penelope J Spring, Cindy Kok, Garth A Nicholson, Alvin J Ing, Judith M Spies

Brain· December 2005

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