Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-14771-5.pdf
Reference41 articles.
1. Birouk, N. et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120(Pt 5), 813–823 (1997).
2. Lupski, J. R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232 (1991).
3. Liu, P. et al. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am. J. Hum. Genet. 94, 462–469 (2014).
4. Chance, P. F. et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143–151 (1993).
5. Mouton, P. et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 52, 1440–1446 (1999).
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1. Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report;Heliyon;2023-07
2. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients;Genes;2022-07-08
3. Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests;Biomolecules;2021-04-19
4. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01
5. A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP;Journal of Neuromuscular Diseases;2020-09-18
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