Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Ataxia and SYNE1[original query] |
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Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Movement disorders : official journal of the Movement Disorder Society 2012 Mar 27 (3): 442-6. Fogel Brent L, Lee Ji Yong, Lane Jessica, Wahnich Amanda, Chan Sandy, Huang Alden, Osborn Greg E, Klein Eric, Mamah Catherine, Perlman Susan, Geschwind Daniel H, Coppola Giovan |
Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations. Journal of neurology 2016 May . Wiethoff Sarah, Hersheson Joshua, Bettencourt Conceicao, Wood Nicholas W, Houlden Hen |
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 21 (1): 195-206. Sun Miao, Johnson Amy Knight, Nelakuditi Viswateja, Guidugli Lucia, Fischer David, Arndt Kelly, Ma Lan, Sandford Erin, Shakkottai Vikram, Boycott Kym, Warman-Chardon Jodi, Li Zejuan, Del Gaudio Daniela, Burmeister Margit, Gomez Christopher M, Waggoner Darrel J, Das So |
Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants. Cerebellum (London, England) 2020 Sep . Duan Xiaohui, Hao Ying, Cao Zhenhua, Zhou Chao, Zhang Jin, Wang Renbin, Sun Shaojie, Gu Weiho |
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 |
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Translational neurodegeneration 2021 10 10 (1): 40. Cheng Hao-Ling, Shao Ya-Ru, Dong Yi, Dong Hai-Lin, Yang Lu, Ma Yin, Shen Ying, Wu Zhi-Yi |
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2021 1 48 (5): 655-665. Haj Salem Ikhlass, Beaudin Marie, Stumpf Monica, Estiar Mehrdad A, Côté Pierre-Olivier, Brunet Francis, Gamache Pierre-Luc, Rouleau Guy A, Mourabit-Amari Karim, Gan-Or Ziv, Dupré Nicol |
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 |
Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant. Clinical parkinsonism & related disorders 2023 6 9 100205. Francesca Spagnolo, Edoardo Monfrini, Vincenza Pinto, Giovanni Di Maggio, Paolo De Marco, Giacomo P Comi, Augusto Rini, Alessio Di Fon |
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- Page last updated:Mar 25, 2024
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