| Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ... Journal of neuromuscular diseases 4 (4), 293-306, 2017 | 169 | 2017 |
| A multi-source approach to determine SMA incidence and research ready population IEC Verhaart, A Robertson, R Leary, G McMacken, K König, J Kirschner, ... Journal of neurology 264, 1465-1473, 2017 | 155 | 2017 |
| Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea S Bauché, S O’regan, Y Azuma, F Laffargue, G McMacken, D Sternberg, ... The American Journal of Human Genetics 99 (3), 753-761, 2016 | 85 | 2016 |
| Molecular characterization of congenital myasthenic syndromes in Spain D Natera-de Benito, A Töpf, JJ Vilchez, L González-Quereda, ... Neuromuscular Disorders 27 (12), 1087-1098, 2017 | 59 | 2017 |
| The increasing genetic and phenotypical diversity of congenital myasthenic syndromes G McMacken, A Abicht, T Evangelista, S Spendiff, H Lochmueller Neuropediatrics 48 (04), 294-308, 2017 | 54 | 2017 |
| Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients G McMacken, RG Whittaker, T Evangelista, A Abicht, M Dusl, ... Journal of Neurology 265, 194-203, 2018 | 50 | 2018 |
| Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome GM McMacken, S Spendiff, RG Whittaker, E O’Connor, RM Howarth, ... Human molecular genetics 28 (14), 2339-2351, 2019 | 37 | 2019 |
| The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes G McMacken, D Cox, A Roos, J Müller, R Whittaker, H Lochmüller Human Molecular Genetics 27 (9), 1556-1564, 2018 | 34 | 2018 |
| Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy S Moreira, L Wood, D Smith, C Marini-Bettolo, M Guglieri, G McMacken, ... Journal of Neurology 264, 1271-1280, 2017 | 33 | 2017 |
| Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant S Balaraju, A Töpf, G McMacken, VP Kumar, A Pechmann, H Roper, ... European Journal of Human Genetics 28 (3), 373-377, 2020 | 27 | 2020 |
| Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome S Donkervoort, P Mohassel, L Laugwitz, MS Zaki, EJ Kamsteeg, ... American Journal of Medical Genetics Part A 182 (10), 2272-2283, 2020 | 21 | 2020 |
| Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion G McMacken, H Lochmüller, B Bansagi, A Pyle, A Lochmüller, ... Journal of neurology 267, 3643-3649, 2020 | 10 | 2020 |
| A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features AZ Lim, G McMacken, F Rastelli, M Oláhová, K Baty, S Hopton, G Falkous, ... Neuromuscular Disorders 30 (8), 661-668, 2020 | 9 | 2020 |
| Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome S Spendiff, R Howarth, G McMacken, T Davey, K Quinlan, E O'Connor, ... Frontiers in Molecular Neuroscience 13, 594220, 2020 | 6 | 2020 |
| Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies G McMacken, RG Whittaker, R Charlton, R Barresi, H Lochmüller, ... European journal of neurology 28 (1), 297-304, 2021 | 5 | 2021 |
| Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment G McMacken, RG Whittaker, R Wake, H Lochmuller, R Horvath Journal of Neurology 270 (6), 3112-3119, 2023 | 4 | 2023 |
| E-POSTERS–DMD–CLINICAL CARE: EP. 67Vitamin D levels in patients with neuromuscular disease: a retrospective audit G Eglon, L Hastings, S Specht, G McMacken, U Moore, M Guglieri, ... Neuromuscular Disorders 29, S172, 2019 | | 2019 |
| Congenital myasthenic syndromes and the therapeutic modulation of the neuromuscular junction GM McMacken Newcastle University, 2019 | | 2019 |
| Next generation sequencing technologies in the genetic diagnosis of Congenital Myasthenic Syndrome A Toepf, Y Azuma, S Gorokhova, E O'Connor, A Porter, P Lorenzoni, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 442-442, 2018 | | 2018 |
| Adrenergic agonists modulate neuromuscular junction formation in zebrafish models of human myasthenic syndromes G McMacken, D Cox, A Roos, J Müller, R Whittaker, H Lochmüller Neuromuscular Disorders 28, S28, 2018 | | 2018 |
