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Publications by Laura Denegri
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
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
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
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
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
MEF2C-related Epilepsy: Delineating the Phenotypic Spectrum From a Novel Mutation and Literature Review
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Unreported RSK2 Missense Mutation in Two Male Sibs With an Unusually Mild Form of Coffin-Lowry Syndrome
Journal of Medical Genetics
Genetics
An Unusually Low Microsatellite Mutation Rate in Dictyostelium Discoideum, an Organism With Unusually Abundant Microsatellites
Genetics
Genetics
