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Scherer SS, Svaren J. (2024) Peripheral Nervous System (PNS) Myelin Diseases. Cold Spring Harbor Perspectives in Biology
Rebelo AP, Abad C, Dohrn MF, et al. (2023) Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights. Biorxiv : the Preprint Server For Biology
Dratch L, Azage M, Baldwin A, et al. (2023) Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts. Journal of Neurology
McLean JW, Wilson JA, Tian T, et al. (2022) Disruption of endosomal sorting in Schwann cells leads to defective myelination and endosomal abnormalities observed in Charcot-Marie-Tooth disease. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience
McCray BA, Scherer SS. (2021) Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics
Guo MH, Bardakjian TM, Brzozowski MR, et al. (2021) Temporal trends and yield of clinical diagnostic genetic testing in adult neurology. American Journal of Medical Genetics. Part A
Motley WW, Züchner S, Scherer SS. (2020) Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy. Neurology. Genetics. 6: e496
Sase S, Almad AA, Boecker CA, et al. (2020) mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. Elife. 9
Cortese A, Zhu Y, Rebelo AP, et al. (2020) Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics
Li JJ, Sarute N, Lancaster E, et al. (2020) A recessive Trim2 mutation causes an axonal neuropathy in mice. Neurobiology of Disease. 104845