Publications by authors named "C Scriba"

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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

J Peripher Nerv Syst· December 2025

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Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with expansions.
Anthony Garvey, I Zay Melville, Carolin K Scriba, Vivien Yong, Miriam Rodrigues

Brain Commun· December 2025

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Relationships Between Nerve Ultrasound Findings and Clinical, Genetic, Laboratory and Electrophysiological Findings in Patients With Chronic Idiopathic Axonal Polyneuropathy.
L Pelosi, A Garvey, I Z Melville, C Scriba, V Yong

Muscle Nerve· December 2025

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Diagnosis of Australasian Patients with Neuromuscular Disease: Insights from a Comprehensive Panel Approach.
Carolin K Scriba, Fathimath Faiz, Michael Black, Rebecca Gooding, Padma Sivadorai

J Mol Diagn· July 2025

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Carolin K Scriba

Nat Commun· October 2024

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