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Publications by Karina Akinaga
Pelizaeus Merzbacher Disease: Dysmyelination Versus Demyelination
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
Neurology
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The Unfolded Protein Response Modulates Disease Severity in Pelizaeus-Merzbacher Disease
Neuron
Neuroscience
Mutations in RARS Cause a Hypomyelination Disorder Akin to Pelizaeus–Merzbacher Disease
European Journal of Human Genetics
Genetics
Evidence for Disease Penetrance Relating to CNV Size: Pelizaeus-Merzbacher Disease and Manifesting Carriers With a Familial 11 Mb Duplication at Xq22
Clinical Genetics
Genetics
Depletion of Molecular Chaperones From the Endoplasmic Reticulum and Fragmentation of the Golgi Apparatus Associated With Pathogenesis in Pelizaeus-Merzbacher Disease
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
PLP1 Gene Duplication Causes Overexpression and Alteration of the PLP/DM20 Splicing Balance in Fibroblasts From Pelizaeus–Merzbacher Disease Patients
Biochimica et Biophysica Acta - Molecular Basis of Disease
Molecular Medicine
Molecular Biology
Expanded Spectrum of Pelizaeus–Merzbacher-Like Disease: Literature Revision and Description of a Novel GJC2 Mutation in an Unusually Severe Form
European Journal of Human Genetics
Genetics
Axonal Demyelination Versus Wallerian Degeneration in Human Spinal Cord Injuries
Journal of Neurology and Experimental Neuroscience
Quantum Mechanics (Merzbacher, Eugen)
Journal of Chemical Education
Chemistry
Education
Fingolimod Rescues Demyelination in a Mouse Model of Krabbe's Disease
Journal of Neuroscience
Neuroscience