Roberta La Piana

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Spectrum of Visual Disorders in Children With Cerebral Visual Impairment

Elisa Fazzi, Sabrina Signorini, Stefania Maria Bova et al. · Journal of Child Neurology · 2007 · 226 citations

Ocular Disease, Neurological Disorder, Optic Nerve +17

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

Neuro‐ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects

Elisa Fazzi, Sabrina Signorini, Roberta La Piana et al. · Developmental Medicine & Child Neurology · 2012 · 170 citations

Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

C. Uggetti, Roberta La Piana, Simona Orcesi et al. · American Journal of Neuroradiology · 2009 · 83 citations · Full text