Ruth Glasgow

Artiklar

Article: SCIENTIFIC REPORTS. 2019;9(1):5108
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Perli E; Pisano A; Glasgow RIC; Carbo M; Hardy SA; Falkous G; He L; Cerbelli B; Pignataro MG; Zacara E; Re F; Della Monica PL; Morea V; Bonnen PE; Taylor RW; d'Amati G; Giordano C
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(4):592-601
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston CL; Heidler J; Dibley MG; Kremer LS; Taylor LS; Fratter C; French CE; Glasgow RIC; Feichtinger RG; Delon I; Pagnamenta AT; Dolling H; Lemonde H; Aiton N; Bjørnstad A; Henneke L; Gärtner J; Thiele H; Tauchmannova K; Quaghebeur G; Houstek J; Sperl W; Raymond FL; Prokisch H; Mayr JA; McFarland R; Poulton J; Ryan MT; Wittig I; Henneke M; Taylor RW
Article: NEUROGENETICS. 2017;18(4):227-235
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Glasgow RIC; Thompson K; Barbosa IA; He L; Alston CL; Deshpande C; Simpson MA; Morris AAM; Neu A; Löbel U; Hall J; Prokisch H; Haack TB; Hempel M; McFarland R; Taylor RW

Published conference paper: JOURNAL OF INHERITED METABOLIC DISEASE. 2020;43(1):36-50
Recent advances in understanding the molecular genetic basis of mitochondrial disease.
Thompson K; Collier JJ; Glasgow RIC; Robertson FM; Pyle A; Blakely EL; Alston CL; Oláhová M; McFarland R; Taylor RW