About 200 results

ALLMedicine™ Pelizaeus-Merzbacher Disease Center

Research & Reviews  77 results

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pe...
Orphanet Journal of Rare Diseases; Duan R, Ji H et. al.

Mar 30th, 2022 - The natural history and genotype-phenotype correlation of Pelizaeus-Merzbacher disease (PMD) of Chinese patients has been rarely reported. Patients who met the criteria for PMD were enrolled in our study. Genomic analysis was conducted by multiple...

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting f...
Neuroscience Duan R, Li L et. al.

Sep 11th, 2021 - Among the hypomyelinating leukodystrophies, Pelizaeus-Merzbacher disease (PMD) is a representative disorder. The disease is caused by different types of PLP1 mutations, among which PLP1 duplication accounts for ∼70% of the mutations. Previous stud...

A novel non-human primate model of Pelizaeus-Merzbacher disease.
Neurobiology of Disease; Sherman LS, Su W et. al.

Aug 9th, 2021 - Pelizaeus-Merzbacher disease (PMD) is a severe hypomyelinating disorder of the central nervous system (CNS) linked to mutations in the proteolipid protein-1 (PLP1) gene. Although there are multiple animal models of PMD, few of them fully mimic the...

Identifying oligodendrocyte enhancers governing Plp1 expression.
Human Molecular Genetics; Kim D, An H et. al.

Jul 8th, 2021 - Oligodendrocytes (OLs) produce myelin in the central nervous system (CNS), which accelerates the propagation of action potentials and supports axonal integrity. As a major component of CNS myelin, proteolipid protein 1 (Plp1) is indispensable for ...

see more →

Clinicaltrials.gov  2 results

Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD)

May 13th, 2016 - Only subjects who underwent HuCNS-SC transplantation under Protocol CL-N01-PMD will be enrolled in this long term follow-up study. Subjects will return to the site six months and one year after completion of the Phase I study and then annually for...

Study of Human Central Nervous System (CNS) Stem Cells Transplantation in Pelizaeus-Merzbacher Disease (PMD) Subjects

Jan 15th, 2015 - Enrolled subjects will be transplanted with HuCNS-SC cells into the brain and will receive immunosuppression for nine months. The study observation period is for one year after transplant surgery. Thereafter, subjects will be enrolled in a long-te...

see more →

News  1 results

Older Meds May Offer New Hope for Rare Demyelinating Disease

Oct 15th, 2019 - New insight into the underlying mechanisms of a rare and fatal pediatric dymyelinating disease suggests older medications approved by the US Food and Drug Administration (FDA) may help these patients. Pelizaeus-Merzbacher disease (PMD) has no appr...

see more →