Examinant per Autoria "McMacken, Grace M."
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features(Elsevier, 2020) Lim, Albert Z.; McMacken, Grace M.; Rastelli, Francesca; Oláhová, Monika; Baty, Karen; Hopton, Sila; Falkous, Gavin; Töpf, Ana; Lochmüller, Hanns; Marini-Bettolo, Chiara; McFarland, Robert; Taylor, Robert W.
Ítem Accés Obert Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion(Springer, 2020) McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita
Ítem Accés Obert Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome(Frontiers Media, 2020) Spendiff, Sally; Howarth, Rachel M.; McMacken, Grace M.; Davey, Tracey; Quinlan, Kaitlyn; O'Connor, Emily; Slater, Clarke R.; Hettwer, Stefan; Mäder, Armin; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns
Ítem Accés Obert Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome(Oxford University Press, 2019) McMacken, Grace M.; Spendiff, Sally; Whittaker, Roger G.; O'Connor, Emily; Howarth, Rachel M.; Boczonadi, Veronika; Horvath, Rita; Slater, Clarke R.; Lochmüller, Hanns