Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene
Stefania Battistini(University of Siena), Cristina Cereda(University of Milan), R. Zucco(Santa Maria Nuova Hospital), Norina Marcello(University of Cagliari), Enrico Maria Lotti(Azienda Unità Sanitaria Locale Della Romagna), Mauro Ceroni(University of Pavia), Michele Benigni(University of Siena), Stella Gagliardi(University of Pavia), Claudia Ricci(University of Siena), Massimo Bondavalli
Cited by 19
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