Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.
Neuroscience Letters
Perez-Pastene, Carolina C; Cobb, Stephanie A SA; Díaz-Grez, Fernando F; Hulihan, Mary M MM; Miranda, Marcelo M; Venegas, Pablo P; Godoy, Osvaldo Trujillo OT; Kachergus, Jennifer M JM; Ross, Owen A OA; Layson, Luis L; Farrer, Matthew J MJ; Segura-Aguilar, Juan J
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.
American Journal Of Human Genetics
Zabetian, Cyrus P CP; Hutter, Carolyn M CM; Yearout, Dora D; Lopez, Alexis N AN; Factor, Stewart A SA; Griffith, Alida A; Leis, Berta C BC; Bird, Thomas D TD; Nutt, John G JG; Higgins, Donald S DS; Roberts, John W JW; Kay, Denise M DM; Edwards, Karen L KL; Samii, Ali A; Payami, Haydeh H