Umberto Balottin

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 425 citations · Full text

Genetic Disorder, Aicardi-goutières Syndrome, Genetics +9

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi et al. · The American Journal of Human Genetics · 2011 · 183 citations · Full text

Pol Iii, Mendelian Disorder, Genetic Disorder +7

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

Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

Maria Francesca Bedeschi, María Clara Bonaglia, Rita Grasso et al. · Pediatric Neurology · 2006 · 170 citations

Neurology, Corpus Callosum, Genetic Study +3

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

Michela Ripolone, Dario Ronchi, Raffaella Violano et al. · JAMA Neurology · 2015 · 130 citations · Full text