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Publications by Michael Nafisinia
Mutations in RARS Cause a Hypomyelination Disorder Akin to Pelizaeus–Merzbacher Disease
European Journal of Human Genetics
Genetics
Related publications
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
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
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
Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease
Nature Genetics
Genetics
Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy
Human Mutation
Genetics
