Cinzia Bertolin
University of Padua(IT)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Metabolism and Genetic Disorders
Most-Cited Works
- → Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS(2014)368 cited
- → Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice(2017)122 cited
- → Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis(2020)82 cited
- → Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients(2015)79 cited
- → Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis(2021)78 cited
- → Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy(2019)75 cited
- → Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E(2015)65 cited
- → TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations(2015)51 cited
- → Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26(2006)49 cited
- → Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia(2012)42 cited