Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG22
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P et al.
Frontiers in Endocrinology, 2020
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.
Charzewska A et al.
Clinical Genetics, 2016
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