Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Charcot-Marie-Tooth Disease and CMT1A[original query] |
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| Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Annals of neurology 2002 Feb 51 (2): 190-201. Boerkoel Cornelius F, Takashima Hiroshi, Garcia Carlos A, Olney Richard K, Johnson John, Berry Katherine, Russo Paul, Kennedy Shelley, Teebi Ahmad S, Scavina Mena, Williams Lowell L, Mancias Pedro, Butler Ian J, Krajewski Karen, Shy Michael, Lupski James |
| Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. Journal of the neurological sciences 2004 Apr 219 (1-2): 95-100. Lee Yi-Chung, Soong Bing-Wen, Lin Kon-Ping, Lee Hsiang-Ying, Wu Zin-An, Kao Ker-P |
| Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. Genetics in medicine : official journal of the American College of Medical Genetics 2006 Aug 8 (8): 532-5. Song Shujuan, Zhang Yuanzhi, Chen Biao, Zhang Yuanjin, Wang Manjie, Wang Yueying, Yan Ming, Zou Junhua, Huang Yu, Zhong Nanbe |
| A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. Journal of human genetics 2006 51 (3): 227-35. Lin Chia-Yun, Su Yi-Ning, Lee Chien-Nan, Hung Chia-Cheng, Cheng Wen-Fang, Lin Win-Li, Chen Chi-An, Hsieh Sung-Tsa |
| [Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population]. Revista de neurologia 2014 Aug 59 (3): 111-7. Cortés Hernán, Hernández-Hernández Óscar, Bautista-Tirado Teresa, Escobar-Cedillo Rosa Elena, Magaña Jonathan J, Leyva-García Norber |
| Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. JAMA neurology 2016 Apr . Cornett Kayla Md, Menezes Manoj P, Bray Paula, Halaki Mark, Shy Rosemary R, Yum Sabrina W, Estilow Timothy, Moroni Isabella, Foscan Maria, Pagliano Emanuela, Pareyson Davide, Laurá Matilde, Bhandari Trupti, Muntoni Francesco, Reilly Mary M, Finkel Richard S, Sowden Janet, Eichinger Katy J, Herrmann David N, Shy Michael E, Burns Joshua, |
| Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. Neuromuscular disorders : NMD 2018 Apr . Nam Soo Hyun, Kanwal Sumaira, Nam Da Eun, Lee Min Hee, Kang Tae Hoon, Jung Sung-Chul, Choi Byung-Ok, Chung Ki W |
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Journal of neuromuscular diseases 2019 6 (2): 201-211. Tao Feifei, Beecham Gary W, Rebelo Adriana P, Blanton Susan H, Moran John J, Lopez-Anido Camila, Svaren John, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan, |
| Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Annals of neurology 2019 Mar 85 (3): 316-330. Tao Feifei, Beecham Gary W, Rebelo Adriana P, Svaren John, Blanton Susan H, Moran John J, Lopez-Anido Camila, Morrow Jasper M, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan, |
| Optic Neuropathy in Charcot-Marie-Tooth Disease. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 5 41 (2): 233-238. Hamedani Ali G, Wilson James A, Avery Robert A, Scherer Steven |
| Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center. Annals of clinical and translational neurology 2021 7 8 (9): 1809-1816. Argente-Escrig Herminia, Frasquet Marina, Vázquez-Costa Juan Francisco, Millet-Sancho Elvira, Pitarch Inmaculada, Tomás-Vila Miguel, Espinós Carmen, Lupo Vincenzo, Sevilla Tere |
| Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation. Genes & genomics 2022 5 44 (8): 1007-1016. Park Jaehong, Kim Hyun Su, Kwon Hye Mi, Kim Jiah, Nam Soo Hyun, Jung Na Young, Lee Ah Jin, Jung Young Hee, Kim Sang Beom, Chung Ki Wha, Choi Byung- |
| Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients. Frontiers in genetics 2023 7 14 1188361. Yan Ma, Xiaohui Duan, Xiaoxuan Liu, Dongsheng F |
- Page last reviewed:Feb 1, 2024
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