Andrea H. Németh

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Neuropathy target esterase activity defines phenotypes among <i>PNPLA6</i> disorders

Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers

Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy

Germline selection shapes human mitochondrial DNA diversity

Clinical application of next-generation sequencing to the practice of neurology

A clinical diagnostic algorithm for early onset cerebellar ataxia

Flow cytometric analysis of extracellular vesicle subsets in plasma: impact of swarm by particles of non‐interest

EV-TRACK: transparent reporting and centralizing knowledge in extracellular vesicle research

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Improved Characterization of EV Preparations Based on Protein to Lipid Ratio and Lipid Properties

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

<i>ALDH18A1</i>gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Safety and Tolerability of Selisistat for the Treatment of Huntington’s Disease: Results from a Randomized, Double-Blind, Placebo-Controlled Phase II Trial (S47.004)

N02 Safety And Tolerability Of Selisistat For The Treatment Of Huntington's Disease: Results From A Randomised, Double-blind, Placebo-controlled Phase Ii Trial