Lea Leonardis

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

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Christian Guelly, Peng-Peng Zhu, Lea Leonardis et al. · The American Journal of Human Genetics · 2010 · 140 citations · Full text

Reference values for jitter recorded by concentric needle electrodes in healthy controls: A multicenter study

Erik Stålberg, Donald B. Sanders, Sajjad Ali et al. · Muscle & Nerve · 2015 · 82 citations

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Jorge Alonso‐Pérez, Lidia González‐Quereda, Luca Bello et al. · Brain · 2020 · 74 citations · Full text

Genetic Epidemiology, Human Polymorphism, Pathology +29

Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred

Duśan Butinar, Janez Zidar, Lea Leonardis et al. · Annals of Neurology · 1999 · 72 citations · Full text