Intrafamilial phenotypic variability in B4GALNT1-related disorders: A sibling case report

This publication has 14 references indexed in Scilit:

• Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1‐Associated Hereditary Spastic Paraplegia
  Movement Disorders Clinical Practice, 2025
• Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis
  American Journal of Medical Genetics Part A, 2022
• The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central‐Southern China
  Molecular Genetics & Genomic Medicine, 2021
• Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis
  Nature, 2019
• Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
  Annals of Neurology, 2016
• An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models
  Movement Disorders Clinical Practice, 2015
• Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia
  Clinical Genetics, 2013
• Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
  Brain, 2013
• Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
  The American Journal of Human Genetics, 2013
• Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects
  Proceedings of the National Academy of Sciences, 1999