Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Paraplegia and SPAST[original query] |
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| Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. European journal of neurology : the official journal of the European Federation of Neurological Societies 2007 Jul 14 (7): 809-14. Erichsen A K, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen C M |
| Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. BMC neurology 2010 10 17. Braschinsky Mark, Tamm Riin, Beetz Christian, Sachez-Ferrero Elena, Raukas Elve, Lüüs Siiri-Merike, Gross-Paju Katrin, Boillot Catherine, Canzian Federico, Metspalu Andres, Haldre Sul |
| Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC neurology 2010 10 (1): 89. Alvarez Victoria, Sánchez-Ferrero Elena, Beetz Christian, Díaz Marta, Alonso Belén, Corao Ana I, Gámez Josep, Esteban Jesús, Gonzalo Juan F, Pascual-Pascual Samuel I, López de Munain Adolfo, Moris Germán, Ribacoba Renne, Márquez Celedonio, Rosell Jordi, Marín Rosario, García-Barcina Maria J, Del Castillo Emilia, Benito Carmen, Coto Eliecer, |
| Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. Journal of the neurological sciences 2015 Oct 357 (1-2): 167-72. Park Hyunwoong, Kang Seong-Ho, Park Seungman, Kim So Yeon, Seo Soo Hyun, Lee Seung Jun, Lee Jung Ae, Cho Sung Im, Sung Jung-Joon, Lee Kwang-Woo, Kim Ji Yeon, Park Sung Sup, Seong Moon-W |
| Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. Journal of the neurological sciences 2015 Dec 359 (1-2): 35-9. Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Rajkiewicz Marta, Rakowicz Maria, Sobanska Anna, Rudzinska Monika, Wasielewska Anna, Pilch Jacek, Kubalska Jolanta, Lipczynska-Lojkowska Wanda, Kulczycki Jerzy, Kurdziel Katarzyna, Sikorska Agata, Beetz Christian, Zaremba Jacek, Sulek An |
| 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 |
| SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. Journal of human genetics 2016 Oct 61 (10): 845-850. Mészárosová Anna Uhrová, Putzová Martina, ?ermáková Marie, Vávrová Dagmar, Doležalová Kate?ina, Smetanová Irena, Stejskal David, Beetz Christian, Seeman Pav |
| Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. Journal of molecular medicine (Berlin, Germany) 2018 6 96 (7): 701-712. Lu Cong, Li Li-Xi, Dong Hai-Lin, Wei Qiao, Liu Zhi-Jun, Ni Wang, Gitler Aaron D, Wu Zhi-Yi |
| Autonomic dysfunction in hereditary spastic paraplegia type 4. European journal of neurology 2018 11 26 (4): 687-693. González-Salazar C, Takazaki K A G, Martinez A R M, Pimentel-Silva L R, Jacinto-Scudeiro L A, Nakagawa É Y, Fujiwara Murakami C E, Saute J A M, Pedroso J L, Barsottini O G P, Teive H A G, França M |
| Novel mutations in the SPAST gene cause hereditary spastic paraplegia. Parkinsonism & related disorders 2019 11 69 125-133. Zhu Zeyu, Zhang Chao, Zhao Guohua, Liu Qing, Zhong Ping, Zhang Mei, Tang Weiguo, Zhan Feixia, Tian Wotu, Wang Yan, Yin Kaili, Huang Xiaojun, Jiang Jingwen, Liu Xiaoli, Liu Shihua, Zhou Haiyan, Luan Xinghua, Tang Huidong, Wang Ying, Chen Shengdi, Cao |
| Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. Scientific reports 2019 Oct 9 (1): 14412. Kadnikova V A, Rudenskaya G E, Stepanova A A, Sermyagina I G, Ryzhkova O |
| Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a Novel SPAST Mutation. Frontiers in neurology 2020 6 11 399. Lin Jian-Zhong, Zheng Hong-Hua, Ma Qi-Lin, Wang Chen, Fan Li-Ping, Wu Han-Ming, Wang Dan-Ni, Zhang Jia-Xing, Zhan Yi-Ho |
| [Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 11 37 (11): 1261-1264. Qi Na, Ma Mingming, Yang Ke, Lou Guiyu, Qin Litao, Hou Qiaofang, Zhang Yuwei, Liao Shix |
| 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 |
| A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province. Annals of translational medicine 2022 3 10 (2): 67. Shen Tao, Zhang Wen, Li Li, Zuo Rong-Xia, Wang Zi-Jun, Xiao Tai, Zheng Kun-W |
| Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
| 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 |
| Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations. Frontiers in neurology 2023 12 14 1296924. Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Stefano Gambardel |
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