Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Paraplegia and CYP7B1[original query] |
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Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clinical genetics 2011 1 81 (2): 150-7. Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D'Angelo M G, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi M |
SPG5 and multiple sclerosis: clinical and genetic overlap? Acta neurologica Scandinavica 2015 Sep . Criscuolo C, Carbone R, Lieto M, Peluso S, Guacci A, Filla A, Quarantelli M, Lanzillo R, Brescia Morra V, De Michele |
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. Molecular and cellular probes 2015 Dec . Schubert Sarah F, Hoffjan Sabine, Dekomien Gabrie |
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. Journal of neurology 2016 Jun . Polymeris Alexandros A, Tessa Alessandra, Anagnostopoulou Katherine, Rubegni Anna, Galatolo Daniele, Dinopoulos Argirios, Gika Artemis D, Youroukos Sotiris, Skouteli Eleni, Santorelli Filippo M, Pons Ros |
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. Molecular neurodegeneration 2018 07 13 (1): 36. Dong En-Lin, Wang Chong, Wu Shuang, Lu Ying-Qian, Lin Xiao-Hong, Su Hui-Zhen, Zhao Miao, He Jin, Ma Li-Xiang, Wang Ning, Chen Wan-Jin, Lin Xia |
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
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