Sadaf Saba
Wayne State University(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Botulinum Toxin and Related Neurological Disorders, Sphingolipid Metabolism and Signaling, Neurological diseases and metabolism
Most-Cited Works
- → Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study(2020)88 cited
- → Principles and Applications of CRISPR Toolkit in Virus Manipulation, Diagnosis, and Virus-Host Interactions(2022)13 cited
- → Expanded genetic insight and clinical experience of DNMT1-complex disorder(2020)13 cited
- → Demyelination in hereditary sensory neuropathy type‐1C(2020)9 cited
- → Fatigue in patients with hereditary neuropathy with liability to pressure palsies(2020)7 cited
- → Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family(2023)4 cited
- → Can Proximal Nerve Morphometrics Predict Disease Severity in Polyneuropathies?(2023)
- → Compound Mutations in IGHMBP2 are Associated with a Demyelinating Polyneuropathy (P10-13.007)(2022)
- → eP225: Novel compound variants in IGHMBP2 associated with CMT(2022)
- → A Novel Missense Mutation Causing Fascioscapulohumeral Dystrophy Type 2: A Case Report (2512)(2020)