Mariola Skorupinska
National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Botulinum Toxin and Related Neurological Disorders, Neurological diseases and metabolism
Most-Cited Works
- → Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes(2020)172 cited
- → Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease(2019)99 cited
- → Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study(2020)88 cited
- → Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease(2017)73 cited
- → Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity(2019)64 cited
- → Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease(2024)33 cited
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