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Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves
Pantera H, Hu B, Moiseev D, et al.
Human molecular genetics, 2020
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
Wang H, Davison M, Wang K, et al.
Annals of clinical and translational neurology, 2020, 7, 1, p 69
Regulating PMP22 expression as a dosage sensitive neuropathy gene
Pantera H, Shy ME, Svaren J
Brain research, 2019, 1726
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A
Tao F, Beecham GW, Rebelo AP, et al.
Annals of neurology, 2019, 85, 3, p 316
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
Tao F, Beecham GW, Rebelo AP, et al.
Journal of Neuromuscular Diseases, 2019, 6, 2, p 201
Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer
Pantera H, Moran JJ, Hung HA, et al.
Human molecular genetics, 2018
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models
Zhao HT, Damle S, Ikeda-Lee K, et al.
The Journal of clinical investigation, 2018, 128, 1, p 359
