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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 10, 2023. (Total: 217827Documents)
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Records 1 - 12 (of 12 Records)

Query Trace: Ataxia and SETX[original query]
[Update on hereditary neuropathy].
Rinsho shinkeigaku = Clinical neurology 2005 1 44 (11): 991-4.
Nakagawa Masanori, Takashima Hiros
Senataxin mutations and amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2010 12 12 (3): 223-7.
Hirano Michio, Quinzii Catarina M, Mitsumoto Hiroshi, Hays Arthur P, Roberts J Kirk, Richard Patricia, Rowland Lewis
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
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Brain : a journal of neurology 2013 Oct 136 (Pt 10): 3106-18.
Németh Andrea H, Kwasniewska Alexandra C, Lise Stefano, Parolin Schnekenberg Ricardo, Becker Esther B E, Bera Katarzyna D, Shanks Morag E, Gregory Lorna, Buck David, Zameel Cader M, Talbot Kevin, de Silva Rajith, Fletcher Nicholas, Hastings Rob, Jayawant Sandeep, Morrison Patrick J, Worth Paul, Taylor Malcolm, Tolmie John, O'Regan Mary, , Valentine Ruth, Packham Emily, Evans Julie, Seller Anneke, Ragoussis Jiann
Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan.
The Chinese journal of physiology 2014 Apr 57 (2): 83-9.
Shen Che-Piao, Lin Wei-Yong, Lin Ting-Fang, Wang Wen-Fu, Tsai Chon-Haw, Hsu Ban-Dar, Huang Chih-Yang, Liu Hsin-Ping, Tsai Fuu-J
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.
Journal of clinical neurology (Seoul, Korea) 2018 9 14 (4): 498-504.
Tariq Huma, Imran Rashid, Naz Sad
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Clinical genetics 2019 8 96 (6): 566-574.
Shakya Sunil, Kumari Renu, Suroliya Varun, Tyagi Nishu, Joshi Aditi, Garg Ajay, Singh Inder, Kalikavil Puthanveedu Divya, Cherian Ajith, Mukerji Mitali, Srivastava Achal K, Faruq Mohamm
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 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
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
Movement disorders : official journal of the Movement Disorder Society 2022 4 37 (6): 1309-1316.
da Costa Sophia Caldas Gonzaga, de Rezende-Filho Flávio C, de Freitas Júlian Leticia, de Assis Pereira Matos Paula Camila Alves, Della-Ripa Bruno, França Marcondes Cavalcante, Marques Wilson, Santos Mariana, Cronemberger Igor Vasconcelos Barros, Vale Thiago Cardoso, Kok Fernando, Alonso Isabel, Pedroso José Luiz, Barsottini Orlando G
A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.
Brain sciences 2022 2 12 (2): .
Chiang Ping-I, Liao Ting-Wei, Chen Chiung-M
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
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