Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: Paraplegia and SPG11[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 |
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain : a journal of neurology 2014 Jul 137 (Pt 7): 1907-20. Pensato Viviana, Castellotti Barbara, Gellera Cinzia, Pareyson Davide, Ciano Claudia, Nanetti Lorenzo, Salsano Ettore, Piscosquito Giuseppe, Sarto Elisa, Eoli Marica, Moroni Isabella, Soliveri Paola, Lamperti Elena, Chiapparini Luisa, Di Bella Daniela, Taroni Franco, Mariotti Cateri |
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain : a journal of neurology 2015 Nov . Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton |
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Human mutation 2016 Apr . Günther Sven, Elert-Dobkowska Ewelina, Soehn Anne S, Hinreiner Sophie, Yoon Grace, Heller Raoul, Hellenbroich Yorck, Hübner Christian A, Ray Peter N, Hehr Ute, Bauer Peter, Sulek Anna, Beetz Christi |
JASPAC: Japan Spastic Paraplegia Research Consortium. Brain sciences 2018 8 8 (8): . Koh Kishin, Ishiura Hiroyuki, Tsuji Shoji, Takiyama Yoshihi |
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 |
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. NeuroImage. Clinical 2018 6 19 848-857. Faber Ingrid, Martinez Alberto Rolim Muro, de Rezende Thiago Junqueira Ribeiro, Martins Carlos Roberto, Martins Melina Pazian, Lourenço Charles Marques, Marques Wilson, Montecchiani Celeste, Orlacchio Antonio, Pedroso Jose Luiz, Barsottini Orlando Graziani Povoas, Lopes-Cendes Íscia, França Marcondes Cavalcan |
Quantification of dysarthr?phonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018 5 39 (9): 1547-1550. Konstantopoulos Kostas, Zamba-Papanicolaou Eleni, Christodoulou Kyprou |
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response. Movement disorders : official journal of the Movement Disorder Society 2018 10 33 (10): 1650-1656. Faber Ingrid, Martinez Alberto Rolim Muro, Martins Carlos Roberto, Maia Maidane Luise, Souza Juliana Pasquotto, Lourenço Charles Marques, Marques Wilson, Montecchiani Celeste, Orlacchio Antonio, Pedroso Jose Luiz, Barsottini Orlando Graziani Povoas, Ramos Celso Darío, Lopes-Cendes Íscia, Friedman Joseph H, Amorim Bárbara Juarez, França Marcondes Cavalcan |
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. Translational neurodegeneration 2019 8 19. Wei Qiao, Dong Hai-Lin, Pan Li-Ying, Chen Cong-Xin, Yan Yang-Tian, Wang Rou-Min, Li Hong-Fu, Liu Zhi-Jun, Tao Qing-Qing, Wu Zhi-Yi |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found. Neuroscience letters 2020 2 721 134800. Meszarosova Anna Uhrova, Seeman Pavel, Jencik Jan, Drabova Jana, Cibochova Renata, Stellmachova Julia, Safka Brozkova Da |
Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children. Developmental medicine and child neurology 2022 9 65 (3): 416-423. Wang Jiaping, Fang Fang, Ding Changhong, Li Jiuwei, Wu Yun, Zhang Weihua, Bao Xinhua, Lv Junlan, Wang Xiaohui, Ren Xiaotun, |
Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia. Frontiers in neurology 2022 5 13 872927. Shi Yuzhi, Wang An, Chen Bin, Wang Xingao, Niu Songtao, Li Wei, Li Shaowu, Zhang Zaiqia |
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 11 44 (3): 947-959. Fereshtehnejad Seyed-Mohammad, Saleh Philip A, Oliveira Lais M, Patel Neha, Bhowmick Suvorit, Saranza Gerard, Kalia Lorraine |
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 |
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 |
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia. Movement disorders : official journal of the Movement Disorder Society 2024 1 . Yuwen Cao, Haoran Zheng, Zeyu Zhu, Li Yao, Wotu Tian, Li C |
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- Page last updated:Mar 25, 2024
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