Lea Leonardis

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Wouter van Rheenen, Aleksey Shatunov, Annelot M. Dekker et al. · Nature Genetics · 2016 · 628 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 220 citations · Full text

Medicine, Molecular Genetics, Neurology +13

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

Life Sciences, Genetics, Neurology +17

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 · 84 citations

Life Sciences, Neuroscience, Physiology +13

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 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16