Giuseppe Borghero
Azienda Ospedaliero-Universitaria Cagliari(IT)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Parkinson's Disease Mechanisms and Treatments, Neurological diseases and metabolism, Alzheimer's disease research and treatments
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
- → Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72(2012)205 cited
- → Genetic counselling in ALS: facts, uncertainties and clinical suggestions(2013)125 cited
- → Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials(2017)100 cited
- → Lithium carbonate in amyotrophic lateral sclerosis(2010)99 cited
- → C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population(2012)82 cited
- → Genetic architecture of ALS in Sardinia(2014)73 cited