John McConville

Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies

Werner Hoch, John McConville, Sigrun Helms et al. · Nature Medicine · 2001 · 1.2K citations

Immunology, Pathology, Medicine +2

Detection and characterization of MuSK antibodies in seronegative myasthenia gravis

John McConville, Maria Elena Farrugia, David Beeson et al. · Annals of Neurology · 2004 · 445 citations

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Gerald Pfeffer, Gráinne S. Gorman, Helen Griffin et al. · Brain · 2014 · 174 citations · Full text

Mitochondrial Dna Maintenance, Ocular Disease, Mendelian Disorder +13

Clinical comparison of muscle‐specific tyrosine kinase (MuSK) antibody‐positive and ‐negative myasthenic patients

Lan Zhou, John McConville, Vinay Chaudhry et al. · Muscle & Nerve · 2004 · 124 citations

Muscle‐specific Tyrosine Kinase, Immunology, Musk Antibody +17

<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