| [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene]. | [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].
Yao L, Li M, Liu L, Fan Z, Jia Y, Wang J, Du F. | 04/5/2024 |
| Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel. | Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel.
Lee JK, Kwon H, Park JH, Jang MA, Kim YG, Kim JW, Choi BO, Jang JH. | 03/26/2024 |
| Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. | Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Pipis M, Won S, Poh R, Efthymiou S, Polke JM, Skorupinska M, Blake J, Rossor AM, Moran JJ, Munot P, Muntoni F, Laura M, Svaren J, Reilly MM., Free PMC Article | 10/13/2023 |
| Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A. | Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
Van Lent J, Vendredy L, Adriaenssens E, Da Silva Authier T, Asselbergh B, Kaji M, Weckhuysen S, Van Den Bosch L, Baets J, Timmerman V., Free PMC Article | 07/7/2023 |
| How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease. | How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.
Stefanski KM, Li GC, Marinko JT, Carter BD, Samuels DC, Sanders CR., Free PMC Article | 02/24/2023 |
| Young infants with PMP22 duplication can have minor nerve conduction study abnormalities. | Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.
Davion JB, Cassim F, Péréon Y, Nguyen The Tich S. | 12/3/2022 |
| Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation. | Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
Jaffry M, Bouchachi S, Ahmed M, Gad SN, Sathe S, Souayah N. | 11/19/2022 |
| Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients. | Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Jung NY, Kwon HM, Nam DE, Tamanna N, Lee AJ, Kim SB, Choi BO, Chung KW., Free PMC Article | 08/6/2022 |
| Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies. | Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
Koike H, Furukawa S, Mouri N, Fukami Y, Iijima M, Katsuno M. | 06/18/2022 |
| Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer. | Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer.
Hou J, Wang L, Zhao J, Zhuo H, Cheng J, Chen X, Zheng W, Hong Z, Cai J., Free PMC Article | 03/19/2022 |
| Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene. | Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.
Fernandes M, Caetano A, Castelhano L, Santos L. | 03/19/2022 |
| Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. | Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
Nan H, Wu Y, Cui S, Sun H, Wang J, Li Y, Meng L, Nagasaka T, Wu L., Free PMC Article | 01/15/2022 |
| Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy. | Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy.
Fantin SM, Parson KF, Yadav P, Juliano B, Li GC, Sanders CR, Ohi MD, Ruotolo BT., Free PMC Article | 12/11/2021 |
| Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22. | Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22.
Marinko JT, Wright MT, Schlebach JP, Clowes KR, Heintzman DR, Plate L, Sanders CR., Free PMC Article | 08/21/2021 |
| Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves. | Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Pantera H, Hu B, Moiseev D, Dunham C, Rashid J, Moran JJ, Krentz K, Rubinstein CD, Won S, Li J, Svaren J., Free PMC Article | 08/14/2021 |
| Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies. | Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Stavrou M, Sargiannidou I, Georgiou E, Kagiava A, Kleopa KA., Free PMC Article | 07/17/2021 |
| Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum. | Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
Taghizadeh S, Vazehan R, Beheshtian M, Sadeghinia F, Fattahi Z, Mohseni M, Arzhangi S, Nafissi S, Kariminejad A, Najmabadi H, Kahrizi K. | 07/10/2021 |
| Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies. | Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Padilha JPD, Brasil CS, Hoefel AML, Winckler PB, Donis KC, Brusius-Facchin AC, Saute JAM. | 07/10/2021 |
| Yield of the PMP22 deletion analysis in patients with compression neuropathies. | Yield of the PMP22 deletion analysis in patients with compression neuropathies.
Ivanovic V, Brankovic M, Bjelica B, Kacar A, Tubic R, Jankovic M, Marjanovic A, Novakovic I, Rakocevic-Stojanovic V, Peric S. | 06/26/2021 |
| The miR-139-5p/peripheral myelin protein 22 axis modulates TGF-beta-induced hepatic stellate cell activation and CCl4-induced hepatic fibrosis in mice. | The miR-139-5p/peripheral myelin protein 22 axis modulates TGF-β-induced hepatic stellate cell activation and CCl(4)-induced hepatic fibrosis in mice.
He C, Shu B, Zhou Y, Zhang R, Yang X. | 05/8/2021 |
| Regulating PMP22 expression as a dosage sensitive neuropathy gene. | Regulating PMP22 expression as a dosage sensitive neuropathy gene.
Pantera H, Shy ME, Svaren J., Free PMC Article | 04/3/2021 |
| Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future. | Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future.
Boutary S, Echaniz-Laguna A, Adams D, Loisel-Duwattez J, Schumacher M, Massaad C, Massaad-Massade L. | 02/20/2021 |
| Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22. | Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22.
Marinko JT, Carter BD, Sanders CR., Free PMC Article | 01/23/2021 |
| PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India. | PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.
Nagappa M, Sharma S, Govindaraj P, Chickabasaviah YT, Siram R, Shroti A, Debnath M, Sinha S, Bindu PS, Taly AB. | 01/9/2021 |
| Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease. | Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX, Dong HL, Wei Q, Li LX, Yu H, Li JQ, Liu GL, Li HF, Bai G, Ma H, Wu ZY. | 09/5/2020 |