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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
2023 Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Feride Cinarli, Paschalis Nicolaou, Kerri Spontarelli, Maike Franziska Dohrn, Adriana P. Rebelo, Pantelitsa Koutsou, +5 more

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