Cheryl Longman
Queen Elizabeth University Hospital(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of -dystroglycan(2003)416 cited
- → Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C(2009)267 cited
- → Brain involvement in muscular dystrophies with defective dystroglycan glycosylation(2008)178 cited
- → Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance(2014)175 cited
- → Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies(2012)167 cited
- → Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene(2005)153 cited
- → Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period(2017)129 cited
- → Not all SCN1A epileptic encephalopathies are Dravet syndrome(2017)125 cited
- → Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease(2012)110 cited
- → De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1(2018)109 cited