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Journal of Biomedicine and Biotechnology
Volume 2009 (2009), Article ID 985415, 10 pages
Diagnosis of Charcot-Marie-Tooth Disease
1Molecular Diagnosis Center of Inherited Diseases, Institut de Investigació Biomèdica de Bellvitge (IDIBELL), Gran Via 199, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
2Unitat de Neuromuscular, Neurology Department, Hospital Universitari de Bellvitge-IDIBELL, Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
Received 24 March 2009; Revised 24 June 2009; Accepted 8 July 2009
Academic Editor: John McGregor
Copyright © 2009 Isabel Banchs et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Citations to this Article [28 citations]
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- Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark Ludman, David L. Skidmore, Timothy Benstead, and Mark E. Samuels, “Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease,” Plos Genetics, vol. 6, no. 8, 2010.
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- Mauro Mondelli, and Gian Maria Fabrizi, “Some considerations on atypical cases of Charcot-Marie-Tooth disease and use of genetic testing in idiopathic polyneuropathies,” Clinical Neurology and Neurosurgery, vol. 112, no. 9, pp. 745–746, 2010.
- Mark E. Samuels, “Saturation of the Human Phenome,” Current Genomics, vol. 11, no. 7, pp. 482–499, 2010.
- Levent Ediz, Özcan Hiz, Mehmet Fethi Ceylan, Murat Toprak, and Yasemin Özkan, “Pes cavus and Charcot Marie tooth disease: A case report and brief review of the literature,” Journal of Clinical and Analytical Medicine, vol. 2, no. 3, pp. 149–151, 2011.
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- Ruxu Zhang, Xiaobo Li, Xiaohong Zi, Shunxiang Huang, Fufeng Zhang, Kun Xia, Qian Pan, and Beisha Tang, “Clinical classification and gene mutation of Chinese probands with Charcot-Marie-Tooth disease Analysis of 57 cases,” Neural Regeneration Research, vol. 6, no. 9, pp. 706–711, 2011.
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- Federica Menotti, Ilenia Bazzucchi, Francesco Felici, Antonello Damiani, Maria Cristina Gori, and Andrea Macaluso, “Neuromuscular function after muscle fatigue in Charcot-Marie-Tooth type 1A patients,” Muscle & Nerve, vol. 46, no. 3, pp. 434–439, 2012.
- Jason S. Hoellwarth, Susan T. Mahan, and Samantha A. Spencer, “Painful pes planovalgus,” Journal of Pediatric Orthopaedics B, vol. 21, no. 5, pp. 428–433, 2012.
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- Maria Marttila, Bernd Rautenstrauss, Kathrin Huehne, Virpi Laitinen, Kari Majamaa, and Mikko Karppa, “A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease,” Journal Of Neurology, vol. 259, no. 8, pp. 1585–1589, 2012.
- Sarah E. Yagerman, Michael B. Cross, Daniel W. Green, and David M. Scher, “Pediatric orthopedic conditions in Charcot–Marie–Tooth disease,” Current Opinion in Pediatrics, vol. 24, no. 1, pp. 50–56, 2012.
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- A. Melián-Suárez, I. Santana-Casiano, L. Rivero-González, N. Martín-Álamo, E. Martín-Castillo, R. Bellini-García, and E. de la Peña-Naranjo, “Deformidad raquídea en los pacientes afectos de la enfermedad de Charcot-Marie-Tooth,” Rehabilitación, 2013.
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- Dana Gabrikova, Martin Mistrik, Jarmila Bernasovska, Alexandra Bozikova, Regina Behulova, Iveta Tothova, and Sona Macekova, “Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia,” Journal of Applied Genetics, vol. 54, no. 4, pp. 455–460, 2013.
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