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2013, ISBN 0444595651, Volume 113
Book Chapter
Journal Article
Brain Pathology, ISSN 1015-6305, 09/2018, Volume 28, Issue 5, pp. 611 - 630
Pelizaeus‐Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic... 
bioenergetic failure | antioxidants | oxidative stress | Pelizaeus‐Merzbacher disease | mitochondrial dynamics | Pelizaeus-Merzbacher disease | EXPERIMENTAL AUTOIMMUNE ENCEPHALOMYELITIS | ALZHEIMERS-DISEASE | PATHOLOGY | PROTEOMIC IDENTIFICATION | NEUROSCIENCES | CLINICAL NEUROLOGY | AXONAL DEGENERATION | X-ADRENOLEUKODYSTROPHY | MULTIPLE-SCLEROSIS | CENTRAL-NERVOUS-SYSTEM | TRANSGENIC MOUSE MODEL | ENERGY-METABOLISM | MYELIN PROTEOLIPID PROTEIN | Mitochondrial Dynamics | Pelizaeus-Merzbacher Disease - metabolism | Spinal Cord - metabolism | Oxidative Stress | Humans | Child, Preschool | DNA, Mitochondrial | Infant | Male | RNA, Messenger - metabolism | Mitochondrial Proteins - metabolism | Pelizaeus-Merzbacher Disease - pathology | Spinal Cord - pathology | Myelin Proteolipid Protein - metabolism | Child | Fibroblasts - metabolism | Mice, Inbred C57BL | Cells, Cultured | Mice, Transgenic | Mitochondria - metabolism | Mitochondria - pathology | Fibroblasts - pathology | Animals | Myelin Proteolipid Protein - genetics | Glutamic Acid - metabolism | Antioxidants | Oxidative stress | Enzymes | Cysteine | Creatine kinase | Analysis | Mitochondrial DNA | Creatine | Myelin proteins | Tricarboxylic acid cycle | Phosphorylation | Reactive oxygen species | Central nervous system | Impairment | Homeostasis | Motors | Krebs cycle | Depolarization | Proteins | Cords | Mitochondria | Myelin proteolipid protein | Neurodegeneration | Oligodendrocytes | Fibroblasts | Ataxia | Phenotypes | Myelin | Abnormalities | Spasticity | Pharmacology | Life span | Oxidative phosphorylation | Morphology | Proteolipid protein | Nystagmus | Glycolysis | Life Sciences
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2019, Volume 61, Issue 12, pp. 1439 - 1447
The aim of the study was to redefine the phenotype of Allan–Herndon–Dudley syndrome (AHDS), which is caused by mutations in the SLC16A2 gene that encodes the... 
Journal Article
Brain, ISSN 0006-8950, 02/2015, Volume 138, Issue 2, pp. 284 - 292
Journal Article
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2013, Volume 34, Issue 8, pp. 1160 - 1171
Journal Article