Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: ATL1[original query] |
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Haplotype analysis at the FRAXA locus in Thai subjects. American journal of medical genetics 2001 Jan 98 (3): 224-9. Limprasert P, Saechan V, Ruangdaraganon N, Sura T, Vasiknanote P, Jaruratanasirikul S, Brown W |
FMR1 haplotype analyses among Indians: a weak founder effect and other findings. Human genetics 2003 Mar 112 (3): 262-71. Sharma Deepti, Gupta Meena, Thelma B |
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 |
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, |
Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys. Annals of human genetics 2012 Mar 76 (2): 110-20. Barasoain Maitane, Barrenetxea Gorka, Ortiz-Lastra Eduardo, González Javier, Huerta Iratxe, Télez Mercedes, Ramírez Juan Manuel, Domínguez Amaia, Gurtubay Paula, Criado Begoña, Arrieta Isab |
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 |
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 |
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 |
Three novel mutations in 20 patients with hereditary spastic paraparesis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018 6 39 (9): 1551-1557. Duz Mehmet Bugrahan, Dasdemir Selcuk, Kalayci Yigin Aysel, Akalin Mehmet Ali, Seven Mehm |
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 |
Are genetic variations in glutathione S-transferases involved in anti-tuberculosis drug-induced liver injury? A meta-analysis. Journal of clinical pharmacy and therapeutics 2019 Aug . Zhang Meng, Wu Shou-Quan, He Jian-Qi |
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics 2019 2 20 (1): 27-38. Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Ziora-Jakutowicz Karolina, Rakowicz Maria, Sobanska Anna, Pilch Jacek, Antczak-Marach Dorota, Zaremba Jacek, Sulek An |
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 |
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 aspects of hereditary spastic paraplegia in patients from Turkey. Neurologia i neurochirurgia polska 2020 Apr . Akçakaya Nihan H, Öze? Ak Burçak, Gonzalez Michael A, Züchner Stefan, Battalo?lu Esra, Parman Ye? |
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 |
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 |
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Annals of clinical and translational neurology 2022 1 9 (2): 193-205. Chopra Maya, Gable Dustin L, Love-Nichols Jamie, Tsao Alexa, Rockowitz Shira, Sliz Piotr, Barkoudah Elizabeth, Bastianelli Lucia, Coulter David, Davidson Emily, DeGusmao Claudio, Fogelman David, Huth Kathleen, Marshall Paige, Nimec Donna, Sanders Jessica Solomon, Shore Benjamin J, Snyder Brian, Stone Scellig S D, Ubeda Ana, Watkins Colyn, Berde Charles, Bolton Jeffrey, Brownstein Catherine, Costigan Michael, Ebrahimi-Fakhari Darius, Lai Abbe, O'Donnell-Luria Anne, Paciorkowski Alex R, Pinto Anna, Pugh John, Rodan Lance, Roe Eugene, Swanson Lindsay, Zhang Bo, Kruer Michael C, Sahin Mustafa, Poduri Annapurna, Srivastava Siddhar |
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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