H. Roper
Heartlands Hospital(GB)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Cellular transport and secretion, Genetic Neurodegenerative Diseases, Selenium in Biological Systems, Endoplasmic Reticulum Stress and Disease
Most-Cited Works
- → Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling(2013)367 cited
- → De novo LMNA mutations cause a new form of congenital muscular dystrophy(2008)281 cited
- → Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies(2007)175 cited
- → SEPN1 -related myopathies(2011)82 cited
- → Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant(2019)33 cited
- → Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies(2012)3 cited
- → O7-8 The selenoprotein N related congenital muscular dystrophy, the UK experience: clinical course and genotype/phenotype correlation(2009)1 cited
- → G.P.157(2014)1 cited
- → P67 SEPN1 related myopathies: Clinical course in a large cohort of patients(2011)
- → CONGENITAL MUSCULAR DYSTROPHIES(2020)