Grace McMacken

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Zaïda Koeks, Catherine L. Bladen, David Salgado et al. · Journal of Neuromuscular Diseases · 2017 · 182 citations · Full text

Medicine, Neurology, Clinical Epidemiology +4

A multi-source approach to determine SMA incidence and research ready population

Ingrid E.C. Verhaart, Agata Robertson, Rebecca Leary et al. · Journal of Neurology · 2017 · 175 citations · Full text

Medicine, Genetics, Neurology +14

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Life Sciences, Neuroscience, Physiology +15

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez et al. · Neuromuscular Disorders · 2017 · 80 citations

Life Sciences, Genetics, Molecular Genetics +14

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Grace McMacken, Roger G. Whittaker, Teresinha Evangelista et al. · Journal of Neurology · 2017 · 46 citations · Full text

Life Sciences, Genetics, Neurology +15