Matt Parton

Mutations in<i>GMPPB</i>cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu et al. · Brain · 2015 · 139 citations · Full text

Targeting protein homeostasis in sporadic inclusion body myositis

Mhoriam Ahmed, Pedro Machado, Adrian Miller et al. · Science Translational Medicine · 2016 · 134 citations · Full text

A practical approach to diagnosing adult onset leukodystrophies

Rebekah M. Ahmed, Elaine Murphy, Indran Davagnanam et al. · Journal of Neurology Neurosurgery & Psychiatry · 2013 · 93 citations · Full text

Diagnosis, Cerebrovascular Disease, Neurovascular Disease +23

Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis

James B Lilleker, Anke Rietveld, Stephen R. Pye et al. · Annals of the Rheumatic Diseases · 2017 · 88 citations · Full text

<i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Anna Sárközy, Debbie Hicks, Judith A. Hudson et al. · Human Mutation · 2013 · 70 citations · Full text

Genetics, Genetic Epidemiology, Pathology +19