Ruxandra Dafinca

<i>C9orf72</i> Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Ruxandra Dafinca, Jakub Scaber, Nidaa A. Ababneh et al. · Stem Cells · 2016 · 238 citations · Full text

Neurogenomics, Sporadic Als, Stem Cells 2016 +24

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

Yoshitsugu Aoki, Raquel Manzano, Yi Lee et al. · Brain · 2017 · 151 citations · Full text

Neurodegenerative Diseases, Vesicle Trafficking, Neurobiology Of Disease +15

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

Topaz Altman, Ariel Ionescu, Amjad Ibraheem et al. · Nature Communications · 2021 · 132 citations · Full text

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 · 127 citations · Full text

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

David F. Gordon, Ruxandra Dafinca, Jakub Scaber et al. · Neurobiology of Disease · 2018 · 104 citations · Full text

Bac Transgenic Mice, Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis +9