Publications by Dr Grace McMacken - ePrints

Browsing publications by Dr Grace McMacken.

Newcastle Authors	Title	Year
Dr Albert Lim Dr Grace McMacken Francesca Rastelli Dr Monika Olahova Karen Baty et al.	A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features	2020
Dr Grace McMacken Professor Hanns Lochmuller Dr Boglarka Bansagi Dr Angela Pyle Professor Patrick Chinnery et al.	Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion	2020
Dr Sally Spendiff Rachel Howarth Dr Grace McMacken Tracey Davey Dr Andreas Roos et al.	Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome	2020
Dr Grace McMacken Professor Roger Whittaker Dr Teresinha Evangelista Professor Hanns Lochmuller	Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients	2018
Dr Grace McMacken Daniel Cox Dr Andreas Roos Professor Roger Whittaker Professor Hanns Lochmuller et al.	The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes	2018
Dr Ingrid Verhaart Agata Robertson Becca Leary Dr Grace McMacken Professor Hanns Lochmuller et al.	A multi-source approach to determine SMA incidence and research ready population	2017
Dr Ana Topf Professor Jordi Diaz Manera Dr Nuria Muelas Gomez Dr Teresinha Evangelista Dr Yoshiteru Azuma et al.	Molecular characterization of congenital myasthenic syndromes in Spain	2017
Libby Wood Professor Chiara Marini Bettolo Professor Michela Guglieri Dr Grace McMacken Dr Anna Mayhew et al.	Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy	2017
Dr Grace McMacken Dr Teresinha Evangelista Dr Sally Spendiff Professor Hanns Lochmuller	The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes	2017
Dr Yoshiteru Azuma Dr Grace McMacken Dr Ana Topf Professor Hanns Lochmuller	Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea	2016