Janet E. Sowden

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast et al. · The American Journal of Human Genetics · 2013 · 188 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 170 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +9

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

D. Herrmann, Rita Horváth, Janet E. Sowden et al. · The American Journal of Human Genetics · 2014 · 119 citations · Full text

Synaptotagmin 2, Mutations Cause, Medicine +11

Gene expression during normal and FSHD myogenesis

Koji Tsumagari, Shao-Chi Chang, Michelle Lacey et al. · BMC Medical Genomics · 2011 · 108 citations · Full text

Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective

Nicholas E. Johnson, Chad Heatwole, Nuran Dilek et al. · Neuromuscular Disorders · 2014 · 108 citations · Full text

Medicine, Quality Of Life, Dental Disease +1