Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and SPAST[original query] |
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| A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). European journal of human genetics : EJHG 2010 Sep 18 (9): 1065-7. Schlipf Nina A, Beetz Christian, Schüle Rebecca, Stevanin Giovanni, Erichsen Anne Kjersti, Forlani Sylvie, Zaros Cécile, Karle Kathrin, Klebe Stephan, Klimpe Sven, Durr Alexandra, Otto Susanne, Tallaksen Chantal M E, Riess Olaf, Brice Alexis, Bauer Peter, Schöls Ludg |
| 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 |
| 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 |
| Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. Journal of the neurological sciences 2016 May 364 116-21. Balicza Peter, Grosz Zoltan, Gonzalez Michael A, Bencsik Renata, Pentelenyi Klara, Gal Aniko, Varga Edina, Klivenyi Peter, Koller Julia, Züchner Stephan, Molnar Judit Mar |
| Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European journal of human genetics : EJHG 2017 8 25 (11): 1217-1228. Morais Sara, Raymond Laure, Mairey Mathilde, Coutinho Paula, Brandão Eva, Ribeiro Paula, Loureiro José Leal, Sequeiros Jorge, Brice Alexis, Alonso Isabel, Stevanin Giovan |
| The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Neurogenetics 2018 4 19 (2): 111-121. Travaglini Lorena, Aiello Chiara, Stregapede Fabrizia, D'Amico Adele, Alesi Viola, Ciolfi Andrea, Bruselles Alessandro, Catteruccia Michela, Pizzi Simone, Zanni Ginevra, Loddo Sara, Barresi Sabina, Vasco Gessica, Tartaglia Marco, Bertini Enrico, Nicita Frances |
| Genetic analysis of neurodegenerative diseases in a pathology cohort. Neurobiology of aging 2018 12 76 214.e1-214.e9. Blauwendraat Cornelis, Pletnikova Olga, Geiger Joshua T, Murphy Natalie A, Abramzon Yevgeniya, Rudow Gay, Mamais Adamantios, Sabir Marya S, Crain Barbara, Ahmed Sarah, Rosenthal Liana S, Bakker Catherine C, Faghri Faraz, Chia Ruth, Ding Jinhui, Dawson Ted M, Pantelyat Alexander, Albert Marilyn S, Nalls Mike A, Resnick Susan M, Ferrucci Luigi, Cookson Mark R, Hillis Argye E, Troncoso Juan C, Scholz Sonja |
| 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 |
| 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 |
| Whole genome sequencing of 45 Japanese patients with intellectual disability. American journal of medical genetics. Part A 2021 2 185 (5): 1468-1480. Abe-Hatano Chihiro, Iida Aritoshi, Kosugi Shunichi, Momozawa Yukihide, Terao Chikashi, Ishikawa Keiko, Okubo Mariko, Hachiya Yasuo, Nishida Hiroya, Nakamura Kazuyuki, Miyata Rie, Murakami Chie, Takahashi Kan, Hoshino Kyoko, Sakamoto Haruko, Ohta Sayaka, Kubota Masaya, Takeshita Eri, Ishiyama Akihiko, Nakagawa Eiji, Sasaki Masayuki, Kato Mitsuhiro, Matsumoto Naomichi, Kamatani Yoichiro, Kubo Michiaki, Takahashi Yoshiyuki, Natsume Jun, Inoue Ken, Goto Yu-Ic |
| 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, |
| 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 |
| 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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