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Browsing publications by Dr Grace McMacken

Newcastle AuthorsTitleYearFull text
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 features2020
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 patients2018
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 syndromes2018
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 population2017
Dr Ana Topf
Dr Nuria Muelas Gomez
Dr Teresinha Evangelista
Dr Yoshiteru Azuma
Dr Grace McMacken
et al.
Molecular characterization of congenital myasthenic syndromes in Spain2017
Libby Wood
Dr Chiara Marini Bettolo
Dr Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy2017
Dr Grace McMacken
Dr Teresinha Evangelista
Dr Sally Spendiff
Professor Hanns Lochmuller
The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes2017
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 Apnea2016