Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
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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 |
| 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 |
| 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 |
| Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. Human mutation 2020 6 41 (8): e7-e45. Tunca Ceren, ?eker Tuncay, Akçimen Fulya, Co?kun Cemre, Bayraktar Elif, Palvadeau Robin, Zor Seyit, Koço?lu Cemile, Kartal Ece, ?en Nesli Ece, Hamzeiy Hamid, Özo?uz Erimi? Asl?han, Norman Utku, Karakahya O?uzhan, Olgun Gülden, Akgün Tahsin, Durmu? Hacer, ?ahin Erdi, Çakar Arman, Ba?ar Gürsoy Esra, Babacan Y?ld?z Gülsen, ??ak Bar??, Uluç Kay?han, Hana?as? Ha?met, Bilgiç Ba?ar, Turgut Nilda, Aysal Fikret, Erta? Mustafa, Boz Cavit, Kotan Dilcan, ?driso?lu Halil, Soysal Aysun, Uzun Adatepe Nurten, Akal?n Mehmet Ali, Koç Filiz, Tan Ersin, Oflazer Piraye, Deymeer Feza, Ta?tan Öznur, Çiçek A Ercüment, Kavak Er?en, Parman Ye?im, Ba?ak A Naz |
| Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan. Parkinsonism & related disorders 2021 5 87 87-91. Hsu Shao-Lun, Hsueh Hsueh-Wen, Chen Shih-Ying, Chang Yung-Yee, Tan Shennie, Hong Chien-Tai, Tsai Yu-Shuen, Yu Kai-Wei, Wu Hsiu-Mei, Liao Yi-Chu, Soong Bing-Wen, Hu Chaur-Jong, Lan Min-Yu, Lee Yi-Chu |
| 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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