Cinzia Bertolin

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Russell L. McLaughlin, Dick Schijven, Wouter van Rheenen et al. · Nature Communications · 2017 · 154 citations · Full text

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

Anny Devoy, Bernadett Kalmár, Michelle Stewart et al. · Brain · 2017 · 121 citations · Full text

Knockout Mouse, Neurodegenerative Diseases, Synaptic Plasticity +15

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Ramita Dewan, Ruth Chia, Jinhui Ding et al. · Neuron · 2020 · 79 citations · Full text

Amyotrophic Lateral Sclerosis, Alzheimer's Disease, Pathology +8

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

Giorgia Querin, Cinzia Bertolin, Elisa Da Re et al. · Journal of Neurology Neurosurgery & Psychiatry · 2015 · 78 citations · Full text

Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

Janel O. Johnson, Ruth Chia, Danny E. Miller et al. · JAMA Neurology · 2021 · 78 citations · Full text