Giuseppe Marangi
Università Cattolica del Sacro Cuore(IT)Agostino Gemelli University Polyclinic(IT)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Genomic variations and chromosomal abnormalities, Neurogenetic and Muscular Disorders Research, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases
Most-Cited Works
- → Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis(2014)441 cited
- → A Genome-Wide Association Study of Myasthenia Gravis(2015)218 cited
- → On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review(2008)203 cited
- → Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype(2012)160 cited
- → Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges(2014)148 cited
- → SYT1-associated neurodevelopmental disorder: a case series(2018)140 cited
- → P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis