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Brain : a Journal of Neurology|July 30, 2014
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndromeTeddy Y Wu, Jennifer M Taylor, Dean H Kilfoyle, et al.
Plos One|December 11, 2025
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history studyKarlien Mul, Kate Eichinger, Man Hung, et al.
Neurology|February 26, 2026
Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1Kristofoor E Leeuwenberg, Valeria A Sansone, Johanna Hamel, et al.
Muscle & Nerve|May 11, 2026
Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1Valeria A Sansone, Andrea Lizio, Carola R Ferrari Aggradi, et al.
Frontiers in Neurology|July 12, 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar AtaxiasAndreas Traschütz, Selina Reich, Astrid D Adarmes, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|November 1, 2019
Redefining the Multiple Sclerosis Severity Score (MSSS): The effect of sex and onset phenotypeYuan Zhou, Suzi B Claflin, Jim Stankovich, et al.
Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.
Global Change Biology|December 20, 2015
Testing the generality of above-ground biomass allometry across plant functional types at the continent scaleKeryn I Paul, Stephen H Roxburgh, Jerome Chave, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
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