Rosemary Shy
University of Iowa Health Care(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Botulinum Toxin and Related Neurological Disorders, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, Health, Medicine and Society
Most-Cited Works
- → CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis(2014)338 cited
- → Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability(2012)175 cited
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene(2015)106 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
- → Natural history of Charcot‐Marie‐Tooth disease during childhood(2017)75 cited
- → A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores(2020)51 cited
- → Stoichiometric Alteration of PMP22 Protein Determines the Phenotype of Hereditary Neuropathy With Liability to Pressure Palsies(2007)39 cited
- → The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)(2018)37 cited