Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: TWNK: 908G>A; Arg303Gln
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Movement Disorders : Official Journal Of The Movement Disorder Society
Percetti, Marco M; Franco, Giulia G; Monfrini, Edoardo E; Caporali, Leonardo L; Minardi, Raffaella R; La Morgia, Chiara C; Valentino, Maria Lucia ML; Liguori, Rocco R; Palmieri, Ilaria I; Ottaviani, Donatella D; Vizziello, Maria M; Ronchi, Dario D; Di Berardino, Federica F; Cocco, Antoniangela A; Macao, Bertil B; Falkenberg, Maria M; Comi, Giacomo Pietro GP; Albanese, Alberto A; Giometto, Bruno B; Valente, Enza Maria EM; Carelli, Valerio V; Di Fonzo, Alessio A
Publication Date: 2022-09
Variant appearance in text: PEO: 908G>A; rs137852956
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
Journal Of Clinical Medicine
Bermejo-Guerrero, Laura L; de Fuenmayor-Fernández de la Hoz, Carlos Pablo CP; Serrano-Lorenzo, Pablo P; Blázquez-Encinar, Alberto A; Gutiérrez-Gutiérrez, Gerardo G; Martínez-Vicente, Laura L; Galán-Dávila, Lucía L; García-García, Jorge J; Arenas, Joaquín J; Muelas, Nuria N; Hernández-Laín, Aurelio A; Domínguez-González, Cristina C; Martín, Miguel A MA
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
Journal Of Clinical Medicine
Bermejo-Guerrero, Laura L; de Fuenmayor-Fernández de la Hoz, Carlos Pablo CP; Serrano-Lorenzo, Pablo P; Blázquez-Encinar, Alberto A; Gutiérrez-Gutiérrez, Gerardo G; Martínez-Vicente, Laura L; Galán-Dávila, Lucía L; García-García, Jorge J; Arenas, Joaquín J; Muelas, Nuria N; Hernández-Laín, Aurelio A; Domínguez-González, Cristina C; Martín, Miguel A MA
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: TWNK: 908G>A; Arg303Gln; rs137852956
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Neurology
Fratter, C C; Gorman, G S GS; Stewart, J D JD; Buddles, M M; Smith, C C; Evans, J J; Seller, A A; Poulton, J J; Roberts, M M; Hanna, M G MG; Rahman, S S; Omer, S E SE; Klopstock, T T; Schoser, B B; Kornblum, C C; Czermin, B B; Lecky, B B; Blakely, E L EL; Craig, K K; Chinnery, P F PF; Turnbull, D M DM; Horvath, R R; Taylor, R W RW