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Items: 1 to 20 of 192

1.
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
P I Patel, C Garcia, R Montes de Oca-Luna, R I Malamut, B Franco, S Slaugenhaupt, A Chakravarti, J R Lupski
Am J Hum Genet. 1990 Dec; 47(6): 926–934.
PMCID:
PMC1683908
SummaryPage BrowsePDF–1.6MCite
2.
Gait Pattern in Charcot-Marie-Tooth Disease Type 1A According to Disease Severity
Jihyun Park, So Young Joo, Byung-Ok Choi, Dae-Hyun Kim, Jong Bum Park, Jong Weon Lee, Deog Young Kim
J Pers Med. 2023 Oct; 13(10): 1473. Published online 2023 Oct 8. doi: 10.3390/jpm13101473
PMCID:
PMC10608009
ArticlePubReaderPDF–737KCite
3.
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
Jonas Van Lent, Leen Vendredy, Elias Adriaenssens, Tatiana Da Silva Authier, Bob Asselbergh, Marcus Kaji, Sarah Weckhuysen, Ludo Van Den Bosch, Jonathan Baets, Vincent Timmerman
Brain. 2023 Jul; 146(7): 2885–2896. Published online 2022 Dec 13. doi: 10.1093/brain/awac475
PMCID:
PMC10316758
ArticlePubReaderPDF–1.2MCite
4.
CMT1A current gene therapy approaches and promising biomarkers
Marina Stavrou, Kleopas A. Kleopa
Neural Regen Res. 2023 Jul; 18(7): 1434–1440. Published online 2022 Nov 25. doi: 10.4103/1673-5374.361538
PMCID:
PMC10075121
ArticlePubReaderPDF–1.7MCite
5.
The systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressed PMP22
Iliana Michailidou, Jeroen Vreijling, Matthijs Rumpf, Maarten Loos, Bastijn Koopmans, Nina Vlek, Nina Straat, Cedrick Agaser, Thomas B. Kuipers, Hailiang Mei, Frank Baas, Kees Fluiter
Curr Res Neurobiol. 2023; 4: 100077. Published online 2023 Feb 4. doi: 10.1016/j.crneur.2023.100077
PMCID:
PMC10011818
ArticlePubReaderPDF–6.8MCite
6.
Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data
Yeo Jin Kim, Hyun Su Kim, Ji Hyun Lee, Young Cheol Yoon, Byung-Ok Choi
Sci Rep. 2022; 12: 16622. Published online 2022 Oct 5. doi: 10.1038/s41598-022-21112-8
PMCID:
PMC9534835
ArticlePubReaderPDF–1.3MCite
7.
Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A
Helen AZEVEDO, Henrique COSTA, Eduardo DAVIDOVICH, Camila PUPE, Osvaldo José Moreira NASCIMENTO
Arq Neuropsiquiatr. 2021 May; 79(5): 414–419. Published online 2021 May 9. doi: 10.1590/0004-282X-ANP-2020-0132
PMCID:
PMC9394555
ArticlePubReaderPDF–317KCite
8.
Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study
Florian P. Thomas, Mario A. Saporta, Shahram Attarian, Teresa Sevilla, Rafael Sivera, Gian M. Fabrizi, Filippo Genovese, Amy J. Gray, Simon Bull, Daniel Tanesse, Manuel Rego, Allison Moore, Courtney Hollett, Xavier Paoli, Thomas Sénéchal, Laura Day, Chengyu Ouyang, Samuel Llewellyn, Mark Larkin, Youcef Boutalbi
J Clin Neuromuscul Dis. 2022 Sep; 24(1): 7–17. Published online 2022 Aug 19. doi: 10.1097/CND.0000000000000426
PMCID:
PMC9394494
ArticlePubReaderPDF–396KCite
9.
Feasibility of simultaneous high-resolution anatomical and quantitative MR imaging of sciatic nerves in patients with Charcot-Marie-Tooth Type 1A (CMT1A) at 7T
Bragi Sveinsson, Olivia E Rowe, Jason P Stockmann, Daniel J Park, Peter J Lally, Matthew S Rosen, Robert L Barry, Florian Eichler, Bruce R Rosen, Reza Sadjadi
Muscle Nerve. Author manuscript; available in PMC 2023 Aug 1.
Published in final edited form as: Muscle Nerve. 2022 Aug; 66(2): 206–211. Published online 2022 Jun 13. doi: 10.1002/mus.27647
PMCID:
PMC9308706
ArticlePubReaderPDF–802KCite
10.
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
Katy Eichinger, Janet E. Sowden, Joshua Burns, Michael P. McDermott, Jeffrey Krischer, John Thornton, Davide Pareyson, Steven S. Scherer, Michael E. Shy, Mary M. Reilly, David N. Herrmann
Front Neurol. 2022; 13: 930435. Published online 2022 Jun 27. doi: 10.3389/fneur.2022.930435
PMCID:
PMC9271780
ArticlePubReaderPDF–1.3MCite
11.
A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice
Marina Stavrou, Alexia Kagiava, Sarah G. Choudury, Matthew J. Jennings, Lindsay M. Wallace, Allison M. Fowler, Amanda Heslegrave, Jan Richter, Christina Tryfonos, Christina Christodoulou, Henrik Zetterberg, Rita Horvath, Scott Q. Harper, Kleopas A. Kleopa
J Clin Invest. 2022 Jul 1; 132(13): e159814. Published online 2022 Jul 1. doi: 10.1172/JCI159814
PMCID:
PMC9246392
ArticlePubReaderPDF–3.3MCite
12.
Physical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A
Vukan Ivanovic, Bogdan Bjelica, Aleksa Palibrk, Marija Brankovic, Ivo Bozovic, Ivana Basta, Andrija Savic, Vidosava Rakocevic Stojanovic, Aleksandra Kacar
Front Neurol. 2022; 13: 852150. Published online 2022 Mar 16. doi: 10.3389/fneur.2022.852150
PMCID:
PMC8966677
ArticlePubReaderPDF–288KCite
13.
Nerve Ultrasound Findings before and after Surgery in a Patient with Charcot-Marie-Tooth Disease Type 1A and Comorbid Carpal Tunnel Syndrome
Lisa B.E. Shields, Vasudeva G. Iyer, Yi Ping Zhang, Christopher B. Shields
Case Rep Neurol. 2022 Jan-Apr; 14(1): 111–116. Published online 2022 Mar 10. doi: 10.1159/000522574
PMCID:
PMC8958582
ArticlePubReaderPDF–513KCite
14.
Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A
Zhiyong Chen, Monica Saini, Shermyn X. M. Neo, Peng-Soon Ng, Jasmine S. Koh, Kalpana Prasad, Kamal Verma, Sonia Davila, Weng Khong Lim, Ziqun Phua, Michelle M. Li, Corrine Kang, Karine S. S. Tay, Josiah Y. H. Chai
Front Neurol. 2022; 13: 826634. Published online 2022 Feb 25. doi: 10.3389/fneur.2022.826634
PMCID:
PMC8914073
ArticlePubReaderPDF–512KCite
15.
Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients
Hyun Su Kim, Ji Hyun Lee, Young Cheol Yoon, Min Jae Cha, Soo Hyun Nam, Hye Mi Kwon, Seonwoo Kim, Hojeong Won, Byung-Ok Choi
Sci Rep. 2021; 11: 21535. Published online 2021 Nov 2. doi: 10.1038/s41598-021-00819-0
PMCID:
PMC8563983
ArticlePubReaderPDF–1.4MCite
16.
MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
Hongge Wang, Matthew Davison, Kathryn Wang, Tai-he Xia, Katherine M. Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Alexa Bacha, Yunhong Bai, Laurie Gutmann, Shawna M.E. Feely, Tiffany Grider, Alexander M. Rossor, Mary M. Reilly, Michael E. Shy, John Svaren
Neurology. 2021 Aug 3; 97(5): e489–e500. doi: 10.1212/WNL.0000000000012266
PMCID:
PMC8356381
ArticlePubReaderPDF–1.0MCite
17.
Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A
Yuichi Hamada, Kazusa Takahashi, Takamichi Kanbayashi, Yuki Hatanaka, Shunsuke Kobayashi, Masahiro Sonoo
Intern Med. 2021 May 15; 60(10): 1611–1614. Published online 2020 Dec 22. doi: 10.2169/internalmedicine.6153-20
PMCID:
PMC8188030
ArticlePubReaderPDF–872KCite
18.
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
BMC Neurol. 2021; 21: 64. Published online 2021 Feb 11. doi: 10.1186/s12883-021-02087-x
PMCID:
PMC7876803
ArticlePubReaderPDF–945KCite
19.
A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot–Marie–Tooth disease type 1A
Nina Ha, Young Il Choi, Namhee Jung, Ju Young Song, Dae Kwon Bae, Min Cheol Kim, Yong Jae Lee, Hyeseung Song, Geon Kwak, Soyeon Jeong, Saeyoung Park, Soo Hyun Nam, Sung‐Chul Jung, Byung‐Ok Choi
Br J Pharmacol. 2020 Nov; 177(22): 5096–5113. Published online 2020 Sep 27. doi: 10.1111/bph.15231
PMCID:
PMC7589015
ArticlePubReaderPDF–28MCite
20.
Exploiting Sphingo- and Glycerophospholipid Impairment to Select Effective Drugs and Biomarkers for CMT1A
Davide Visigalli, Giovanna Capodivento, Abdul Basit, Roberto Fernández, Zeeshan Hamid, Barbora Pencová, Chiara Gemelli, Daniela Marubbi, Cecilia Pastorino, Adrienne M. Luoma, Christian Riekel, Daniel A. Kirschner, Angelo Schenone, José A. Fernández, Andrea Armirotti, Lucilla Nobbio
Front Neurol. 2020; 11: 903. Published online 2020 Aug 25. doi: 10.3389/fneur.2020.00903
PMCID:
PMC7477391
ArticlePubReaderPDF–6.0MCite

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