Janet E. Sowden
University of Rochester(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Botulinum Toxin and Related Neurological Disorders, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders
Most-Cited Works
- → Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia(2013)189 cited
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy(2014)120 cited
- → Gene expression during normal and FSHD myogenesis(2011)108 cited
- → Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective(2014)108 cited
- → Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2(2014)98 cited
- → Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease(2016)95 cited
- → Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study(2020)88 cited
- → Is skin biopsy a predictor of transition to symptomatic HIV neuropathy?(2006)67 cited
- → Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level(2009)58 cited