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by Bertolotto, Corine and Lesueur, Fabienne and Giuliano, Sandy and Strub, Thomas and De Lichy, Mahaut and Bille, Karine and Dessen, Philippe and D'Hayer, Benoit and Mohamdi, Hamida and Remenieras, Audrey and Maubec, Eve and De La Fouchardière, Arnaud and Molinié, Vincent and Vabres, Pierre and Dalle, Stéphane and Poulalhon, Nicolas and Martin-Denavit, Tanguy and Thomas, Luc and Andry-Benzaquen, Pascale and Dupin, Nicolas and Boitier, Fraņoise and Rossi, Annick and Perrot, Jean-Luc and Labeille, Bruno and Robert, Caroline and Escudier, Bernard and Caron, Olivier and Brugières, Laurence and Saule, Simon and Gardie, Betty and Gad, Sophie and Richard, Stéphane and Couturier, Jérôme and Teh, Bin Tean and Ghiorzo, Paola and Pastorino, Lorenza and Puig, Susana and Badenas, Celia and Olsson, Hakan and Ingvar, Christian and Rouleau, Etienne and Lidereau, Rosette and Bahadoran, Philippe and Vielh, Philippe and Corda, Eve and Blanché, Hélène and Zelenika, Diana and Galan, Pilar and Aubin, Fraņois and Bachollet, Bertrand and Becuwe, Céline and Berthet, Pascaline and Jean Bignon, Yves and Bonadona, Valérie and Bonafe, Jean-Louis and Bonnet-Dupeyron, Marie-Noëlle and Cambazard, Fréderic and Chevrant-Breton, Jacqueline and Coupier, Isabelle and Dalac, Sophie and Demange, Liliane and D'Incan, Michel and Dugast, Catherine and Faivre, Laurence and Vincent-Fétita, Lynda and Gauthier-Villars, Marion and Gilbert, Brigitte and Grange, Florent and Grob, Jean-Jacques and Humbert, Philippe and Janin, Nicolas and Joly, Pascal and Kerob, Delphine and Lasset, Christine and Leroux, Dominique and Levang, Julien and Limacher, Jean-Marc and Livideanu, Cristina and Longy, Michel and Lortholary, Alain and Stoppa-Lyonnet, Dominique and Mansard, Sandrine and Mansuy, Ludovic and Marrou, Karine and Matéus, Christine and Maugard, Christine and Meyer, Nicolas and Nogues, Catherine and Souteyrand, Pierre and Venat-Bouvet, Laurence and Zattara, Hélène and Chaudru, Valérie and Lenoir, Gilbert M and Lathrop, Mark and Davidson, Irwin and Avril, Marie-Fraņoise and Demenais, Florence and Ballotti, Robert and Bressac-De Paillerets, Brigitte and French Familial Melanoma Study Grp and French Familial Melanoma Study Group and The French Familial Melanoma Study Group and Surgery (Lund) and Lund University and Cancer Epidemiology and Cancerepidemiologi and EpiHealth: Epidemiology for Health and Kirurgi, Lund and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
Nature, ISSN 0028-0836, 12/2011, Volume 480, Issue 7375, pp. 94 - 98
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
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 06/2008, Volume 147B, Issue 4, pp. 538 - 539
Journal Article
Journal Article
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