Gabriella Restagno
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, Parkinson's Disease Mechanisms and Treatments, Prenatal Screening and Diagnostics
Most-Cited Works
- → A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD(2011)4,423 cited
- → Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS(2010)1,222 cited
- → Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study(2012)1,213 cited
- → Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis(2014)441 cited
- → The origin of the major cystic fibrosis mutation (ΔF508) in European populations(1994)343 cited
- → SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis(2012)279 cited
- → Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy(2014)275 cited
- → Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data(2007)221 cited
- → Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene(2000)219 cited
- → A Genome-Wide Association Study of Myasthenia Gravis(2015)218 cited