A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient
Lucia Corrado(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Sandra D’Alfonso(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Michela Godi(Azienda Ospedaliera Sant'Andrea), Emanuela Cova(Fondazione Istituto Neurologico Nazionale Casimiro Mondino), Luca Falasco(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Simona Mellone(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Letizia Mazzini(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Yari Carlomagno(Jacksonville College), Lucia Testa, Cristina Cereda(University of Milan)
Cited by 68
Related Papers
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>
|American Journal of Medical Genetics Part A|2015|617
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
|Nature Genetics|2021|567
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
|The Lancet Neurology|2013|441
Transancestral mapping and genetic load in systemic lupus erythematosus
|Nature Communications|2017|436