Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference46 articles.
Cited by 31 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Pelizaeus–Merzbacher disease: on the cusp of myelin medicine;Trends in Molecular Medicine;2024-05
2. Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review;BMC Medical Genomics;2023-05-22
3. Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia;Biomedicines;2022-07-15
4. Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease;Orphanet Journal of Rare Diseases;2022-03-28
5. Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus–Merzbacher Disease;Neuroscience;2021-11
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