K. Bushby
Publications by Year
Research Areas
Muscle Physiology and Disorders, Nuclear Structure and Function, Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies, Mitochondrial Function and Pathology
Most-Cited Works
- → Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene(2000)486 cited
- → A refined diagnostic algorithm for Bethlem myopathy(2008)85 cited
- → Becker muscular dystrophy with onset after 60 years(1994)58 cited
- → RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases(2014)50 cited
- Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy(2002)
- → Neuromuscular Disorders: Clinical and Molecular Genetics(1998)4 cited
- → Limb-girdle muscular dystrophy: A follow-up study of 79 patients(1996)3 cited
- Novel dysferlin mutations in Brazilian LGMD2B patients(2001)
- Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes(2005)
- → Does the performance of upper limb capture functional variations in dysferlinopathy?(2017)2 cited