Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: PLP1[original query] |
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Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenatal diagnosis 2002 1 21 (13): 1133-6. Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork C D, Wakui K, Fukushima Y, Lupski J R, Shaffer L |
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. Neurogenetics 2006 Mar 7 (1): 31-7. Combes Patricia, Bonnet-Dupeyron Marie-Noelle, Gauthier-Barichard Fernande, Schiffmann Raphael, Bertini Enrico, Rodriguez Diana, Armour John A L, Boespflug-Tanguy Odile, Vaurs-Barrière Catheri |
The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. Journal of neurology 2007 Sep 254 (9): 1221-6. DeLuca G C, Ramagopalan S V, Cader M Z, Dyment D A, Herrera B M, Orton S, Degenhardt A, Pugliatti M, Sadovnick A D, Sotgiu S, Ebers G |
Genomewide association study of movement-related adverse antipsychotic effects.
Biological psychiatry 2010 Feb 67 (3): 279-82. Aberg Karolina, Adkins Daniel E, Bukszár József, Webb Bradley T, Caroff Stanley N, Miller Del D, Sebat Jonathan, Stroup Scott, Fanous Ayman H, Vladimirov Vladimir I, McClay Joseph L, Lieberman Jeffrey A, Sullivan Patrick F, van den Oord Edwin J C |
PLP1 gene analysis in 88 patients with leukodystrophy. Clinical genetics 2013 Dec 84 (6): 566-71. Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó M J, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano |
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. European journal of medical genetics 2015 Sep 58 (9): 466-70. Ferreira Marie-Céleste, Dorboz Imen, Rodriguez Diana, Boespflug Tanguy Odi |
Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1. Molecular neurobiology 2018 9 56 (6): 3999-4012. Ocklenburg Sebastian, Anderson Catrona, Gerding Wanda M, Fraenz Christoph, Schlüter Caroline, Friedrich Patrick, Raane Maximilian, Mädler Burkhard, Schlaffke Lara, Arning Larissa, Epplen Jörg T, Güntürkün Onur, Beste Christian, Genç Erh |
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease. Colombia medica (Cali, Colombia) 2018 8 49 (2): 182-187. Velasco Parra Harvy Mauricio, Maradei Anaya Silvia Juliana, Acosta Guio Johanna Carolina, Arteaga Diaz Clara Eugenia, Prieto Rivera Juan Carl |
PLP1 and CNTN1 gene variation modulates the microstructure of human white matter in the corpus callosum. Brain structure & function 2018 8 223 (8): 3875-3887. Anderson Catrona, Gerding Wanda M, Fraenz Christoph, Schlüter Caroline, Friedrich Patrick, Raane Maximilian, Arning Larissa, Epplen Jörg T, Güntürkün Onur, Beste Christian, Genç Erhan, Ocklenburg Sebasti |
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PloS one 2018 2 13 (2): e0188869. Ji Haoran, Li Dongxiao, Wu Ye, Zhang Quanli, Gu Qiang, Xie Han, Ji Taoyun, Wang Huifang, Zhao Lu, Zhao Haijuan, Yang Yanling, Feng Hongchun, Xiong Hui, Ji Jinhua, Yang Zhixian, Kou Liping, Li Ming, Bao Xinhua, Chang Xingzhi, Zhang Yuehua, Li Li, Li Huijuan, Niu Zhengping, Wu Xiru, Xiao Jiangxi, Jiang Yuwu, Wang Jingm |
PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries. Molecular neurobiology 2018 Feb . Ocklenburg Sebastian, Gerding Wanda M, Raane Maximilian, Arning Larissa, Genç Erhan, Epplen Jörg T, Güntürkün Onur, Beste Christi |
PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations. Journal of clinical medicine 2018 10 7 (10): . Cloake Nancy C, Yan Jun, Aminian Atefeh, Pender Michael P, Greer Judith |
Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey. Neurologia i neurochirurgia polska 2020 Apr . Akçakaya Nihan H, Öze? Ak Burçak, Gonzalez Michael A, Züchner Stefan, Battalo?lu Esra, Parman Ye? |
Hypomyelinating leukodystrophies in adults: Clinical and genetic features. European journal of neurology 2020 11 28 (3): 934-944. Di Bella Daniela, Magri Stefania, Benzoni Chiara, Farina Laura, Maccagnano Carmelo, Sarto Elisa, Moscatelli Marco, Baratta Silvia, Ciano Claudia, Piacentini Sylvie H M J, Draghi Lara, Mauro Elena, Pareyson Davide, Gellera Cinzia, Taroni Franco, Salsano Etto |
Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease. Aging 2021 1 13 (1): 1488-1497. Xue Huili, Yu Aili, Chen Xuemei, Lin Na, Lin Min, Huang Hailong, Xu Liang |
Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene. Annals of Indian Academy of Neurology 2022 4 24 (6): 958-960. Kim Ae Ryoung, Lee Yun-Jeong, Kwack Mi Hee, Lee Jong-M |
Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease. Orphanet journal of rare diseases 2022 3 17 (1): 137. Duan Ruoyu, Ji Haoran, Yan Huifang, Wang Junyu, Zhang Yu, Zhang Qian, Li Dongxiao, Cao Binbin, Gu Qiang, Wu Ye, Jiang Yuwu, Li Ming, Wang Jingm |
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review. Molecular syndromology 2023 12 14 (6): 477-484. Aida Ghasemi, Zahra Sadr, Mojgan Babanejad, Mohammad Rohani, Afagh Ala |
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- Page last updated:Apr 22, 2024
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