Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Ataxia and SPTBN2[original query] |
---|
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 |
De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain : a journal of neurology 2015 Jul 138 (Pt 7): 1817-32. Parolin Schnekenberg Ricardo, Perkins Emma M, Miller Jack W, Davies Wayne I L, D'Adamo Maria Cristina, Pessia Mauro, Fawcett Katherine A, Sims David, Gillard Elodie, Hudspith Karl, Skehel Paul, Williams Jonathan, O'Regan Mary, Jayawant Sandeep, Jefferson Rosalind, Hughes Sarah, Lustenberger Andrea, Ragoussis Jiannis, Jackson Mandy, Tucker Stephen J, Németh Andrea |
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 |
Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. Brain and behavior 2019 8 9 (9): e01372. Huang Ting, Gao Chen-Yu, Wu Liang, Gong Peng-Yu, Wang Ji-Zheng, Tian You-Yong, Zhang Ying-Do |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. Clinical genetics 2019 May . Nicita Francesco, Nardella Marta, Bellacchio Emanuele, Alfieri Paolo, Terrone Gaetano, Piccini Giorgia, Graziola Federica, Pignata Claudio, Capuano Alessandro, Bertini Enrico, Zanni Ginev |
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5. Annals of clinical and translational neurology 2021 3 8 (4): 956-963. Romaniello Romina, Citterio Andrea, Panzeri Elena, Arrigoni Filippo, De Rinaldis Marta, Trabacca Antonio, Bassi Maria Tere |
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 |
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. Neurology. Genetics 2023 12 9 (1): e200050. Fatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, Corien C Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J de Vries, Birgit Sikkema-Raddatz, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: