Varaico: Literature-Extracted Genetic Variants

Gene:PLP1
Variant:p.L85R
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PLP1

NM_000533.5:p.L85R

Associated Papers

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Duan R et al.

Orphanet Journal of Rare Diseases, 2022

When glia meet induced pluripotent stem cells (iPSCs).

Li L et al.

Molecular and Cellular Neurosciences, 2020

Chemical Screening Identifies Enhancers of Mutant Oligodendrocyte Survival and Unmasks a Distinct Pathological Phase in Pelizaeus-Merzbacher Disease.

Elitt MS et al.

Stem Cell Reports, 2018

Induction of myelinating oligodendrocytes in human cortical spheroids.

Madhavan M et al.

Nature Methods, 2018

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J et al.

Bmc Pediatrics, 2018

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H et al.

Plos One, 2018

29451896 (PubMed )
Supplement: pone.0188869.s005.xlsx › _S5_Table

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.

Nevin ZS et al.

American Journal of Human Genetics, 2017

Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.

Laukka JJ et al.

Journal of Neuroscience Research, 2014

Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.

Laukka JJ et al.

Journal of the Neurological Sciences, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."