Pages that link to "Q24296775"
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The following pages link to Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder (Q24296775):
Displaying 50 items.
- Proteolipid protein 1 (Q205986) (← links)
- Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination (Q24336543) (← links)
- Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid (Q24563063) (← links)
- Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant (Q24601977) (← links)
- Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis (Q24669755) (← links)
- Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease (Q24679670) (← links)
- Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene (Q28211729) (← links)
- A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease (Q28271002) (← links)
- A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis (Q28272538) (← links)
- Major Myelin proteolipid: the 4-alpha-helix topology (Q28274588) (← links)
- PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 (Q28300725) (← links)
- Update on genetic disorders affecting white matter (Q30628463) (← links)
- The Myelin-Deficient Rat Has a Single Base Substitution in the Third Exon of the Myelin Proteolipid Protein Gene (Q33253149) (← links)
- Molecular mechanisms for CMT1A duplication and HNPP deletion (Q33787286) (← links)
- Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome (Q34141813) (← links)
- Axon-glial interaction in the CNS: what we have learned from mouse models of Pelizaeus-Merzbacher disease. (Q34170562) (← links)
- Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. (Q34301488) (← links)
- CNS myelination and PLP gene dosage (Q34355269) (← links)
- Ludwig Merzbacher (1875-1942): the man behind the disease (Q34367080) (← links)
- Mutations in cardiovascular connexin genes (Q34426537) (← links)
- Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA (Q34568254) (← links)
- Using Temporal Genetic Switches to Synchronize the Unfolded Protein Response in Cell Populations In Vivo (Q34762845) (← links)
- Genetic ataxia (Q34997868) (← links)
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias (Q35059321) (← links)
- Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred (Q35194749) (← links)
- Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease (Q35204565) (← links)
- A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR (Q35882905) (← links)
- Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group (Q35889741) (← links)
- Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease (Q36508553) (← links)
- Molecular Genetics of X-Linked Mutants (Q36616433) (← links)
- Magnetic resonance imaging pattern recognition in hypomyelinating disorders (Q36661277) (← links)
- Isolation and characterization of a cDNA encoding the zebra finch myelin proteolipid protein (Q36676968) (← links)
- Demyelinating diseases and potential repair strategies (Q36780340) (← links)
- Sex chromosome complement influences functional callosal myelination (Q36918241) (← links)
- The molecular and cellular defects underlying Pelizaeus-Merzbacher disease (Q37165742) (← links)
- Recent advances in the genetics of spastic paraplegias (Q37186867) (← links)
- Differences in endoplasmic-reticulum quality control determine the cellular response to disease-associated mutants of proteolipid protein (Q37411567) (← links)
- Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. (Q37423081) (← links)
- Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (Q37672290) (← links)
- Pelizaeus-Merzbacher disease as a chromosomal disorder (Q38088319) (← links)
- Characterization of a Brain-Specific Sp1-Like Activity Interacting with an Unusual Binding Site within the Myelin Proteolipid Protein Promoter (Q38318028) (← links)
- Endoplasmic reticulum quality control and dysmyelination (Q38472569) (← links)
- Genetic basis of inherited peripheral neuropathies. (Q40389551) (← links)
- Molecular genetic analyses of myelin deficiency and cerebellar ataxia. (Q40418136) (← links)
- The Structure and Function of Central Nervous System Myelin (Q40486765) (← links)
- The molecular genetics of myelination: An update (Q40488037) (← links)
- Stimulation of myelin proteolipid protein gene expression by eicosapentaenoic acid in C6 glioma cells (Q40612097) (← links)
- A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. (Q41182431) (← links)
- Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene (Q43605216) (← links)
- Connatal Pelizaeus-Merzbacher disease associated with the jimpy(msd) mice mutation (Q48210622) (← links)