Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Ataxia and SACS[original query] |
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| Copy number variation in pediatric multiple sclerosis. Multiple sclerosis (Houndmills, Basingstoke, England) 2012 Dec . McElroy J, Krupp L, Johnson B, McCauley J, Qi Z, Caillier S, Gourraud P, Yu J, Nathanson L, Belman A, Hauser S, Waubant E, Hedges D, Oksenberg J |
| 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 |
| New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Annals of neurology 2015 Aug . Pilliod Julie, Moutton Sébastien, Lavie Julie, Maurat Elise, Hubert Christophe, Bellance Nadège, Anheim Mathieu, Forlani Sylvie, Mochel Fanny, N'Guyen Karine, Thauvin-Robinet Christel, Verny Christophe, Milea Dan, Lesca Gaëtan, Koenig Michel, Rodriguez Diana, Houcinat Nada, Van-Gils Julien, Durand Christelle M, Guichet Agnès, Barth Magalie, Bonneau Dominique, Convers Philippe, Maillart Elisabeth, Guyant-Marechal Lucie, Hannequin Didier, Fromager Guillaume, Afenjar Alexandra, Chantot-Bastaraud Sandra, Valence Stéphanie, Charles Perrine, Berquin Patrick, Rooryck Caroline, Bouron Julie, Brice Alexis, Lacombe Didier, Rossignol Rodrigue, Stevanin Giovanni, Benard Giovanni, Burglen Lydie, Durr Alexandra, Goizet Cyril, Coupry Isabel |
| Progressive myoclonus epilepsy associated with SACS gene mutations. Neurology. Genetics 2016 Aug 2 (4): e83. Nascimento Fábio A, Canafoglia Laura, Aljaafari Danah, Muona Mikko, Lehesjoki Anna-Elina, Berkovic Samuel F, Franceschetti Silvana, Andrade Danielle |
| 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 |
| 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 |
| Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases. Genes 2023 2 14 (2): . Zaman Qaiser, Khan Muhammad Abbas, Sahar Kalsoom, Rehman Gauhar, Khan Hamza, Rehman Mehwish, Najumuddin , Ahmad Ilyas, Tariq Muhmmad, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Naseer Muhammad Imran, Faisal Muhammad Shah, Wasif Naveed, Jelani Musharr |
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