Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H et al.
Science Advances, 2018
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
Lu Y et al.
Human Genome Variation, 2017
28101371 (PubMed )
Supplement: hgv201644-s1.doc
Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.
Garbern JY
Cellular and Molecular Life Sciences : Cmls, 2007
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