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Longitudinal Patient Outcomes in Chronic Dizziness: A Scoping Review.
Canturk T, Bery AK, Piccoli D, Pyche J, Czikk D, Osborne J, Pearson A, Bhatt C, Shin J, Chow L, Azzi JL, Tohme A, Caulley L, Lelli D, Tse D. Canturk T, et al. Otol Neurotol. 2023 Oct 1;44(9):848-852. doi: 10.1097/MAO.0000000000004000. Otol Neurotol. 2023. PMID: 37703893 Review.
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G. McMillan HJ, et al. Among authors: lelli d. Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3. Orphanet J Rare Dis. 2018. PMID: 30012219 Free PMC article.
20 results