Works matching DE "PELIZAEUS-merzbacher disease"
Results: 45
Potential for Cell-Mediated Immune Responses in Mouse Models of Pelizaeus-Merzbacher Disease.
- Published in:
- Brain Sciences (2076-3425), 2013, v. 3, n. 4, p. 1417, doi. 10.3390/brainsci3041417
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- Publication type:
- Article
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.
- Published in:
- 2017
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- Publication type:
- Case Study
Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene.
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/453105
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- Article
Mutations in cardiovascular connexin genes.
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- Biology of the Cell (Wiley-Blackwell), 2014, v. 106, n. 9, p. 269, doi. 10.1111/boc.201400038
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- Publication type:
- Article
Gait Abnormalities and Progressive Myelin Degeneration in a New Murine Model of Pelizaeus-Merzbacher Disease with Tandem Genomic Duplication.
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- Journal of Neuroscience, 2013, v. 33, n. 29, p. 11788, doi. 10.1523/JNEUROSCI.1336-13.2013
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- Publication type:
- Article
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.
- Published in:
- 2016
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- Publication type:
- journal article
Brain atrophy in Pelizaeus-Merzbacher disease.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.
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- Colombia Medica, 2018, v. 49, n. 2, p. 182, doi. 10.25100/cm.v49i2.2522
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- Article
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 300, doi. 10.1038/jhg.2014.21
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- Publication type:
- Article
Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 553, doi. 10.1038/jhg.2012.85
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- Article
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 580, doi. 10.1038/jhg.2012.71
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- Publication type:
- Article
General anesthesia for an adolescent with Pelizaeus-Merzbacher disease - A case report -.
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- Anesthesia & Pain Medicine, 2019, v. 14, n. 1, p. 44, doi. 10.17085/apm.2019.14.1.44
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- Publication type:
- Article
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease.
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- Brain Pathology, 2018, v. 28, n. 5, p. 611, doi. 10.1111/bpa.12571
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- Publication type:
- Article
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00144-y
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- Publication type:
- Article
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.
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- Clinical Genetics, 2016, v. 90, n. 4, p. 293, doi. 10.1111/cge.12811
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- Publication type:
- Article
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
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- Clinical Genetics, 2014, v. 85, n. 3, p. 267, doi. 10.1111/cge.12154
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- Article
PLP1 gene analysis in 88 patients with leukodystrophy.
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- Clinical Genetics, 2013, v. 84, n. 6, p. 566, doi. 10.1111/cge.12103
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- Publication type:
- Article
PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 169, doi. 10.1111/j.1399-0004.2012.01854.x
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- Article
High frequency of GJA12/ GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
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- Clinical Genetics, 2013, v. 83, n. 1, p. 66, doi. 10.1111/j.1399-0004.2012.01846.x
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- Article
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
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- Clinical Genetics, 2012, v. 81, n. 6, p. 532, doi. 10.1111/j.1399-0004.2011.01716.x
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- Publication type:
- Article
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 34, doi. 10.1038/ejhg.2012.93
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- Article
Anesthetic challenges and successful management of a child with Pelizaeus-Merzbacher disease using general and caudal anesthesia.
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- 2018
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- Publication type:
- Letter to the Editor
Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.
- Published in:
- 2017
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- Publication type:
- journal article
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication.
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- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005050
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- Publication type:
- Article
The Clinical and Molecular Cytogenetic Analyses of Six Patients with Pelizaeus-Merzbacher Disease From Four Families.
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- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2023, v. 17, n. 6, p. 445, doi. 10.12956/tchd.1275274
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- Article
Phenotype of PLP1‐related Disorder Caused by Novel Mutation: A Case Report.
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- 2018
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- Publication type:
- Case Study
A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus.
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- Canadian Journal of Neurological Sciences, 2012, v. 39, n. 2, p. 220, doi. 10.1017/S0317167100013263
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- Article
Modulation of the Innate Immune Response by Human Neural Precursors Prevails over Oligodendrocyte Progenitor Remyelination to Rescue a Severe Model of Pelizaeus-Merzbacher Disease.
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- Stem Cells, 2016, v. 34, n. 4, p. 984, doi. 10.1002/stem.2263
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- Publication type:
- Article
R131: Auditory Testing Profiles of Pelizaeus‐Merzbacher Disease.
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- 2006
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- Publication type:
- Abstract
Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet.
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- Nature Medicine, 2012, v. 18, n. 7, p. 1130, doi. 10.1038/nm.2833
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- Article
Auditory function in Pelizaeus-Merzbacher disease.
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- Journal of Neurology, 2018, v. 265, n. 7, p. 1580, doi. 10.1007/s00415-018-8884-x
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- Publication type:
- Article
A new mutation in GJC2 associated with subclinical leukodystrophy.
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- Journal of Neurology, 2014, v. 261, n. 10, p. 1929, doi. 10.1007/s00415-014-7429-1
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- Article
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
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- Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5
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- Publication type:
- Article
'Pelizaeus-Merzbacher-like disease' presenting as complicated hereditary spastic paraplegia.
- Published in:
- 2012
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- Publication type:
- Letter
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Misalignment of PLP/DM20 Transmembrane Domains Determines Protein Misfolding in Pelizaeus-Merzbacher Disease.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 42, p. 14961, doi. 10.1523/JNEUROSCI.2097-11.2011
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- Publication type:
- Article
Fatal Tracheo-innominate Artery Fistula after Tracheostomy in a Patient with Pelizaeus-Merzbacher Disease.
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- Journal of Nippon Medical School, 2012, v. 79, n. 4, p. 274, doi. 10.1272/jnms.79.274
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- Publication type:
- Article
Altered high-energy phosphate and membrane metabolism in Pelizaeus-Merzbacher disease using phosphorus magnetic resonance spectroscopy.
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- Brain Communications, 2022, v. 4, n. 4, p. 1, doi. 10.1093/braincomms/fcac202
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- Publication type:
- Article
Curcumin therapy in a Plp1 transgenic mouse model of Pelizaeus-Merzbacher disease.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 787, doi. 10.1002/acn3.219
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- Publication type:
- Article
Restoration of the Normal Splicing Pattern of the <i>PLP1</i> Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073633
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- Publication type:
- Article
Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease.
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- Journal of Child Neurology, 2014, v. 29, n. 7, p. 924, doi. 10.1177/0883073813492387
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- Publication type:
- Article
Age-Related Changes in a Patient With Pelizaeus-Merzbacher Disease Determined by Repeated 1H-Magnetic Resonance Spectroscopy.
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- Journal of Child Neurology, 2014, v. 29, n. 2, p. 283, doi. 10.1177/0883073813499635
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- Publication type:
- Article
Pelizaeus-Merzbacher–Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.
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- Journal of Child Neurology, 2013, v. 28, n. 11, p. 1467, doi. 10.1177/0883073812463610
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- Publication type:
- Article
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
- Published in:
- 2015
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- Publication type:
- Case Study