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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 [21 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 Char cot-Marie-Tooth Disease,” Plos Genetics, vol. 6, no. 8, 2010.
- Ahmet Z. Burakgazi, and Ahmet Hoeke, “Respiratory muscle weakness in peripheral neuropathies,” Journal of The Peripheral Nervous System, vol. 15, no. 4, pp. 307–313, 2010.
- Mark E. Samuels, “Saturation of the Human Phenome,” Current Genomics, vol. 11, no. 7, pp. 482–499, 2010.
- 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.
- 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.
- 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.
- Peter Resko, Jan Radvansky, Zuzana Odnogova, Marian Baldovic, Gabriel Minarik, Helena Polakova, Roland Palffy, and Ludevit Kadasi, “Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth dise ase and hereditary neuropathy with liability to pressure palsies,” General Physiology and Biophysics, vol. 30, no. 4, pp. 379–388, 2011.
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- Federica Menotti, Francesco Felici, Antonello Damiani, Fortunato Mangiola, Roberto Vannicelli, and Andrea Macaluso, “Charcot-Marie-Tooth 1A patients with low level of impairment have a higher energy cost of walking than healthy individuals,” Neuromuscular Disorders, vol. 21, no. 1, pp. 52–57, 2011.
- Dolores D. Mruk, and C. Yan Cheng, “The myotubularin family of lipid phosphatases in disease and in spermatogen esis,” Biochemical Journal, vol. 433, pp. 253–262, 2011.
- 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.
- 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.
- Maria Marttila, Bernd Rautenstrauss, Kathrin Huehne, Virpi Laitinen, Kari Majamaa, and Mikko Karppa, “A novel mutation of myelin protein zero associated with late-onset predomin antly 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.
- Wang-yang Xu, Ming-min Gu, Lian-hua Sun, Wen-ting Guo, Hou-bao Zhu, Jian-fang Ma, Wen-tao Yuan, Ying Kuang, Bao-jun Ji, Xiao-lin Wu, Yan Chen, Hong-xin Zhang, Fu-ting Sun, Wei Huang, Lei Huang, Sheng-di Chen, and Zhu-gang Wang, “A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree,” The American Journal of Human Genetics, vol. 91, no. 6, pp. 1088–1094, 2012.
- Cecilia Bucci, Oddmund Bakke, and Cinzia Progida, “Charcot–Marie–Tooth disease and intracellular traffic,” Progress in Neurobiology, vol. 99, no. 3, pp. 191–225, 2012.
- 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.
- Makiko Hayashi, Akiko Abe, Tatsufumi Murakami, Satoshi Yamao, Hidee Arai, Hideji Hattori, Mizue Iai, Kyoko Watanabe, Nobuyuki Oka, Keiji Chida, Yumiko Kishikawa, and Kiyoshi Hayasaka, “Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan,” Journal of Human Genetics, 2013.
- Paola Gargiulo, Paola Vinci, Felipe Navarro-Cremades, and Alessandra H. Rellini, “Sexual Functioning in Women with Mild and Severe Symptoms of Charcot-Marie-Tooth Disease,” The Journal of Sexual Medicine, 2013.
- Federica Menotti, Luca Laudani, Antonello Damiani, and Andrea Macaluso, “Amount and intensity of daily living activities in Charcot-Marie-Tooth 1A patients,” Brain and Behavior, 2013.
- Obaid M. Albulym, Danqing Zhu, Stephen Reddel, Marina Kennerson, and Garth Nicholson, “The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family,” Journal of Neurodegenerative Diseases, vol. 2013, pp. 1–5, 2013.