Andrew G. L. Douglas

<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

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai, Jenny Lord, Matthew Lyon et al. · Genetics in Medicine · 2020 · 178 citations · Full text

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

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 · 69 citations · Full text

Case of Dilatation of the Common Bile Duct

Andrew G. L. Douglas · Europe PMC (PubMed Central) · 1852 · 64 citations · Full text

Biliary Tract, Gastroenterology, Common Bile Duct +5