Human Genome Epidemiology Literature Finder
|
Records 1 - 8 (of 8 Records) |
| Query Trace: Sclerosis and SPG11[original query] |
|---|
| Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiology of aging 2014 Dec 35 (12): 2881.e11-5. Liu Zhi-Jun, Li Hong-Fu, Tan Guo-He, Tao Qing-Qing, Ni Wang, Cheng Xue-Wen, Xiong Zhi-Qi, Wu Zhi-Yi |
| The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology of aging 2015 Apr 36 (4): 1764.e9-18. Özo?uz Asl?han, Uyan Özgün, Birdal Güne?, Iskender Ceren, Kartal Ece, Lahut Suna, Ömür Özgür, Agim Zeynep Sena, Eken Asl? Gündo?du, Sen Nesli Ece, Kavak P?nar, Sayg? Ceren, Sapp Peter C, Keagle Pamela, Parman Ye?im, Tan Ersin, Koç Filiz, Deymeer Feza, Oflazer Piraye, Hana?as? Ha?met, Gürvit Hakan, Bilgiç Ba?ar, Durmu? Hacer, Erta? Mustafa, Kotan Dilcan, Akal?n Mehmet Ali, Güllüo?lu Halil, Zarifo?lu Mehmet, Aysal Fikret, Dö?o?lu Nilgün, Bilguvar Kaya, Günel Murat, Keskin Özlem, Akgün Tahsin, Özçelik Hilmi, Landers John E, Brown Robert H, Ba?ak A Naz |
| 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 |
| Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. Frontiers in genetics 2019 10 732. Tripolszki Kornélia, Gampawar Piyush, Schmidt Helena, Nagy Zsófia F, Nagy Dóra, Klivényi Péter, Engelhardt József I, Széll Már |
| 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 |
| Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics : EJHG 2021 1 29 (4): 604-614. Borg Rebecca, Farrugia Wismayer Maia, Bonavia Karl, Farrugia Wismayer Andrew, Vella Malcolm, van Vugt Joke J F A, Kenna Brendan J, Kenna Kevin P, Vassallo Neville, Veldink Jan H, Cauchi Ruben |
| Novel compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis. Acta neurologica Belgica 2022 11 . Santos Silva Cláudia, Oliveira Santos Miguel, Madureira João, Reimão Sofia, de Carvalho Mame |
- Page last reviewed:Feb 1, 2024
- Content source: