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Page 1
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. Margolin DH, et al. Among authors: hadjivassiliou m. N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8. N Engl J Med. 2013. PMID: 23656588 Free PMC article.
Mutations in TGM6 induce the unfolded protein response in SCA35.
Tripathy D, Vignoli B, Ramesh N, Polanco MJ, Coutelier M, Stephen CD, Canossa M, Monin ML, Aeschlimann P, Turberville S, Aeschlimann D, Schmahmann JD, Hadjivassiliou M, Durr A, Pandey UB, Pennuto M, Basso M. Tripathy D, et al. Among authors: hadjivassiliou m. Hum Mol Genet. 2017 Oct 1;26(19):3749-3762. doi: 10.1093/hmg/ddx259. Hum Mol Genet. 2017. PMID: 28934387
Medical and Paramedical Care of Patients With Cerebellar Ataxia During the COVID-19 Outbreak: Seven Practical Recommendations of the COVID 19 Cerebellum Task Force.
Manto M, Dupre N, Hadjivassiliou M, Louis ED, Mitoma H, Molinari M, Shaikh AG, Soong BW, Strupp M, Van Overwalle F, Schmahmann JD. Manto M, et al. Among authors: hadjivassiliou m. Front Neurol. 2020 May 22;11:516. doi: 10.3389/fneur.2020.00516. eCollection 2020. Front Neurol. 2020. PMID: 32574247 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: hadjivassiliou m. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate.
Hadjivassiliou M, Grunewald RA, Shanmugarajah PD, Sarrigiannis PG, Zis P, Skarlatou V, Hoggard N. Hadjivassiliou M, et al. Cerebellum. 2020 Oct;19(5):680-684. doi: 10.1007/s12311-020-01152-4. Cerebellum. 2020. PMID: 32524518 Free PMC article.
Gluten ataxia.
Hadjivassiliou M, Sanders DS, Woodroofe N, Williamson C, Grünewald RA. Hadjivassiliou M, et al. Cerebellum. 2008;7(3):494-8. doi: 10.1007/s12311-008-0052-x. Cerebellum. 2008. PMID: 18787912 Review.
Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias.
Mitoma H, Adhikari K, Aeschlimann D, Chattopadhyay P, Hadjivassiliou M, Hampe CS, Honnorat J, Joubert B, Kakei S, Lee J, Manto M, Matsunaga A, Mizusawa H, Nanri K, Shanmugarajah P, Yoneda M, Yuki N. Mitoma H, et al. Among authors: hadjivassiliou m. Cerebellum. 2016 Apr;15(2):213-32. doi: 10.1007/s12311-015-0664-x. Cerebellum. 2016. PMID: 25823827 Free PMC article. Review.
275 results