Stéphanie Efthymiou

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 564 citations · Full text

Biallelic Expansion, Neurological Disorder, Genetic Disorder +5

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 236 citations · Full text

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 213 citations · Full text

Vestibular Areflexia Syndrome, Motor Dysfunction, Neurological Disorder +18

<i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy

Riccardo Curró, Alessandro Salvalaggio, Stefano Tozza et al. · Brain · 2021 · 128 citations · Full text

Neurological Disorder, Diagnosis, Neuropathic Pain +22

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 117 citations · Full text

Synaptic Plasticity, Molecular Neuroscience, Developmental Biology +12