Neurology Specific Literature Search   
 
[home][thesaurus]
    

Enter your terms
above and click
the 'Search' button.
Showing articles 0 to 7 of 7

Filter Applied: exome sequencing (Click to remove)

Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025

Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025

A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024

Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022

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 7 of 7