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Showing articles 0 to 3 of 3 Filter Applied: exome sequencing (Click to remove) Niemann-Pick Type C Disease www.UpToDate.com, Nov, Schiffmann, R., 2026 Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017 Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012 Showing articles 0 to 3 of 3