Human Genome Epidemiology Literature Finder
|
Records 1 - 21 (of 21 Records) |
| Query Trace: Disease and CMT1A[original query] |
|---|
| 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 |
| [PCR in the gene diagnosis of Charcot-Marie-Tooth disease]. Zhonghua yi xue za zhi 2002 1 81 (3): 138-41. Xiao J, Tang B, Xia |
| 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 |
| Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genetics in medicine : official journal of the American College of Medical Genetics 2006 Feb 8 (2): 86-92. Szigeti Kinga, Garcia Carlos A, Lupski James |
| The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease. Acta biochimica Polonica 2010 57 (3): 373-7. Sinkiewicz-Darol Elena, Kabzi?ska Dagmara, Moszy?ska Izabela, Kocha?ski Andrz |
| Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. Journal of neurology 2011 1 258 (7): 1234-9. McCorquodale Donald S, Montenegro Gladys, Peguero Ainsley, Carlson Nicole, Speziani Fiorella, Price Justin, Taylor Sean W, Melanson Michel, Vance Jeffery M, Züchner Steph |
| Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study. Journal of neurology, neurosurgery, and psychiatry 2013 Apr 84 (4): 392-7. Chanson Jean-Baptiste, Echaniz-Laguna Andoni, Blanc Frédéric, Lacour Arnaud, Ballonzoli Laurent, Kremer Stéphane, Namer Izzie-Jacques, Lannes Béatrice, Tranchant Christine, Vermersch Patrick, de Seze Jérô |
| [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 |
| The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Sep . Pehlivan Davut, Beck Christine R, Okamoto Yuji, Harel Tamar, Akdemir Zeynep H C, Jhangiani Shalini N, Withers Marjorie A, Goksungur Meryem Tuba, Carvalho Claudia M B, Czesnik Dirk, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna M, Gibbs Richard A, Rautenstrauss Bernd, Sereda Michael W, Lupski James |
| 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 |
| Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain). Journal of the peripheral nervous system : JPNS 2018 12 24 (1): 131-138. Lousa Manuel, Vázquez-Huarte-Mendicoa Carlos, Gutiérrez Antonio J, Saavedra Pedro, Navarro Beatriz, Tugores Anton |
| Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease. Clinical genetics 2019 Aug . Chen Cong-Xin, Dong Hai-Lin, Wei Qiao, Li Li-Xi, Yu Hao, Li Jia-Qi, Liu Gong-Lu, Li Hong-Fu, Bai Ge, Ma Huan, Wu Zhi-Yi |
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
- Content source: