Phillipa J. Lamont

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

James F. Howard, Kimiaki Utsugisawa, Michael Benatar et al. · The Lancet Neurology · 2017 · 745 citations

Multicentre Study, Pharmacology, Medicine +3

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher S. Meredith, Ralf Herrmann, Cheryl Parry et al. · The American Journal of Human Genetics · 2004 · 227 citations · Full text

Mitochondrial Myopathy, Muscle Function, Skeletal Muscle +8

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 213 citations · Full text

Vestibular Areflexia Syndrome, Motor Dysfunction, Neurological Disorder +18

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Harriet Dashnow, Monkol Lek, Belinda Phipson et al. · Genome biology · 2018 · 175 citations · Full text