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Page 1
Genes and genetic testing in hereditary ataxias.
Sandford E, Burmeister M. Sandford E, et al. Among authors: burmeister m. Genes (Basel). 2014 Jul 22;5(3):586-603. doi: 10.3390/genes5030586. Genes (Basel). 2014. PMID: 25055202 Free PMC article.
Evaluation of exome sequencing variation in undiagnosed ataxias.
Sandford E, Li JZ, Burmeister M. Sandford E, et al. Among authors: burmeister m. Brain. 2015 Oct;138(Pt 10):e383. doi: 10.1093/brain/awv087. Epub 2015 Apr 4. Brain. 2015. PMID: 25842391 Free PMC article. No abstract available.
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M. Kim M, et al. Among authors: burmeister m. Elife. 2016 Jan 26;5:e12245. doi: 10.7554/eLife.12245. Elife. 2016. PMID: 26812546 Free PMC article.
PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
Sandford E, Bird TD, Li JZ, Burmeister M. Sandford E, et al. Among authors: burmeister m. Am J Hum Genet. 2016 Mar 3;98(3):588-589. doi: 10.1016/j.ajhg.2016.01.009. Am J Hum Genet. 2016. PMID: 26942291 Free PMC article. No abstract available.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Among authors: burmeister m. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 Free PMC article.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Among authors: burmeister m. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.
304 results