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Publications by Stefano Regis
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
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Pelizaeus Merzbacher Disease: Dysmyelination Versus Demyelination
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
Neurology
The Unfolded Protein Response Modulates Disease Severity in Pelizaeus-Merzbacher Disease
Neuron
Neuroscience
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
Mutations in RARS Cause a Hypomyelination Disorder Akin to Pelizaeus–Merzbacher Disease
European Journal of Human 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
Gene Expression Profile in Fibroblasts of Huntington's Disease Patients and Controls
Journal of the Neurological Sciences
Neurology
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
Alternative Splicing After Gene Duplication Drives CEACAM1-paralog Diversification in the Horse
BMC Evolutionary Biology
Evolution
Ecology
Systematics
Behavior
Duplication of the Hoxd11 Gene Causes Alterations in the Axial and Appendicular Skeleton of the Mouse
Developmental Biology
Developmental Biology
Cell Biology
Molecular Biology
