Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: SPG11[original query] |
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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 |
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 |
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 |
Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Mar 1-4. Zou Zhang-Yu, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Yi |
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 |
JASPAC: Japan Spastic Paraplegia Research Consortium. Brain sciences 2018 8 8 (8): . Koh Kishin, Ishiura Hiroyuki, Tsuji Shoji, Takiyama Yoshihi |
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. Molecular neurodegeneration 2018 07 13 (1): 36. Dong En-Lin, Wang Chong, Wu Shuang, Lu Ying-Qian, Lin Xiao-Hong, Su Hui-Zhen, Zhao Miao, He Jin, Ma Li-Xiang, Wang Ning, Chen Wan-Jin, Lin Xia |
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. NeuroImage. Clinical 2018 6 19 848-857. Faber Ingrid, Martinez Alberto Rolim Muro, de Rezende Thiago Junqueira Ribeiro, Martins Carlos Roberto, Martins Melina Pazian, Lourenço Charles Marques, Marques Wilson, Montecchiani Celeste, Orlacchio Antonio, Pedroso Jose Luiz, Barsottini Orlando Graziani Povoas, Lopes-Cendes Íscia, França Marcondes Cavalcan |
Quantification of dysarthr?phonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018 5 39 (9): 1547-1550. Konstantopoulos Kostas, Zamba-Papanicolaou Eleni, Christodoulou Kyprou |
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 |
SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response. Movement disorders : official journal of the Movement Disorder Society 2018 10 33 (10): 1650-1656. Faber Ingrid, Martinez Alberto Rolim Muro, Martins Carlos Roberto, Maia Maidane Luise, Souza Juliana Pasquotto, Lourenço Charles Marques, Marques Wilson, Montecchiani Celeste, Orlacchio Antonio, Pedroso Jose Luiz, Barsottini Orlando Graziani Povoas, Ramos Celso Darío, Lopes-Cendes Íscia, Friedman Joseph H, Amorim Bárbara Juarez, França Marcondes Cavalcan |
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 |
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. Translational neurodegeneration 2019 8 19. Wei Qiao, Dong Hai-Lin, Pan Li-Ying, Chen Cong-Xin, Yan Yang-Tian, Wang Rou-Min, Li Hong-Fu, Liu Zhi-Jun, Tao Qing-Qing, Wu Zhi-Yi |
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 |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
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? |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found. Neuroscience letters 2020 2 721 134800. Meszarosova Anna Uhrova, Seeman Pavel, Jencik Jan, Drabova Jana, Cibochova Renata, Stellmachova Julia, Safka Brozkova Da |
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 |
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 |
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 3 43 (8): 4989-4996. Xing Fu, Du Ju |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
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 |
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 11 44 (3): 947-959. Fereshtehnejad Seyed-Mohammad, Saleh Philip A, Oliveira Lais M, Patel Neha, Bhowmick Suvorit, Saranza Gerard, Kalia Lorraine |
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 |
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 12 . Tamás Szlepák, Annabel P Kossev, Dóra Csabán, Anett Illés, Szabolcs Udvari, Péter Balicza, Beáta Borsos, Annamária Takáts, Péter Klivényi, Mária J Moln |
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia. Movement disorders : official journal of the Movement Disorder Society 2024 1 . Yuwen Cao, Haoran Zheng, Zeyu Zhu, Li Yao, Wotu Tian, Li C |
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- Page last updated:Apr 22, 2024
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