Paola Barbagallo

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia

Yoshitsugu Aoki, Raquel Manzano, Yi Lee et al. · Brain · 2017 · 157 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD

Ruxandra Dafinca, Paola Barbagallo, Lucy Farrimond et al. · Stem Cell Reports · 2020 · 131 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair

Nidaa A. Ababneh, Jakub Scaber, Rowan Flynn et al. · Human Molecular Genetics · 2020 · 76 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability

Altair Brito dos Santos, Silas Dalum Larsen, Liangchen Guo et al. · Cell Reports Medicine · 2023 · 14 citations · Full text

Life Sciences, Genetics, Neuroscience +17