Cheryl Longman

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of  -dystroglycan

Cheryl Longman · Human Molecular Genetics · 2003 · 416 citations · Full text

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić et al. · Nature Genetics · 2009 · 267 citations · Full text

Ankyrin Domain, Scapuloperoneal Sma, Molecular Biology +4

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Emma Clement, Eugenio Mercuri, Caroline Godfrey et al. · Annals of Neurology · 2008 · 177 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 and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Andrea Klein, Suzanne Lillis, Iulia Munteanu et al. · Human Mutation · 2012 · 166 citations

Genetics, Genetic Epidemiology, Pathology +17