Ronen Spiegel
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
- → Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting(2013)331 cited
- → A Double-Blind Comparative Study of Clozapine and Risperidone in the Management of Severe Chronic Schizophrenia(2001)178 cited
- → Genetic spectrum of hereditary neuropathies with onset in the first year of life(2011)133 cited
- → A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans(2004)129 cited
- → Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation(2015)114 cited
- → Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2(2012)105 cited
- → Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy(2015)102 cited