Lea Leonardis
University of Ljubljana(SI)Ljubljana University Medical Centre(SI)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Amyotrophic Lateral Sclerosis Research, Muscle Physiology and Disorders
Most-Cited Works
- → Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis(2016)620 cited
- → Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion(2020)217 cited
- → Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I(2010)140 cited
- → Reference values for jitter recorded by concentric needle electrodes in healthy controls: A multicenter study(2015)82 cited
- → New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(2020)75 cited
- → Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred(1999)72 cited