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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. Cinarli Yuksel F, et al. Among authors: kleopa ka. J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4. J Neurol. 2023. PMID: 36738336 Free PMC article.
Chronic multiple paraneoplastic syndromes.
Kleopa KA, Teener JW, Scherer SS, Galetta SL, Bird SJ. Kleopa KA, et al. Muscle Nerve. 2000 Nov;23(11):1767-72. doi: 10.1002/1097-4598(200011)23:11<1767::aid-mus16>3.0.co;2-a. Muscle Nerve. 2000. PMID: 11054759
Inherited neuropathies.
Kleopa KA, Scherer SS. Kleopa KA, et al. Neurol Clin. 2002 Aug;20(3):679-709. doi: 10.1016/s0733-8619(01)00016-0. Neurol Clin. 2002. PMID: 12432826 Review.
119 results