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You searched for: Author/Creator Brunetti, Maura

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1. A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment. Issue 12 (25th April 2014)

2. A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation. (May 2020)

3. A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course. Issue 1 (March 2015)

4. A novel splice site FUS mutation in a familial ALS case: effects on protein expression. Issue 1 (2nd January 2022)

5. ALS phenotype is influenced by age, sex, and genetics: A population-based study. (25th February 2020)

6. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. Issue 7 (1st May 2012)

7. Amyotrophic lateral sclerosis onset after prolonged treatment with a VEGF receptors inhibitor. Issue 1 (March 2015)

8. Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis. (26th December 2022)

9. Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy. Issue 2 (25th April 2014)

10. Cognitive impairment across ALS clinical stages in a population-based cohort. (3rd September 2019)