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
Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.
Lin P et al.
Pharmacogenomics and Personalized Medicine, 2025
Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.
Çelik N et al.
European Journal of Pediatrics, 2024
Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.
Peng W et al.
Medicine, 2024
Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene.
Zhang Q et al.
Frontiers in Pediatrics, 2022
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 2020
[Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome].
Wang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
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