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Publications by Federica Lanza
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
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Pelizaeus Merzbacher Disease: Dysmyelination Versus Demyelination
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The Unfolded Protein Response Modulates Disease Severity in Pelizaeus-Merzbacher Disease
Neuron
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Mutations in RARS Cause a Hypomyelination Disorder Akin to Pelizaeus–Merzbacher Disease
European Journal of Human Genetics
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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
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Evidence for Disease Penetrance Relating to CNV Size: Pelizaeus-Merzbacher Disease and Manifesting Carriers With a Familial 11 Mb Duplication at Xq22
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PLP1 Gene Duplication Causes Overexpression and Alteration of the PLP/DM20 Splicing Balance in Fibroblasts From Pelizaeus–Merzbacher Disease Patients
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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
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An Unusually Low Microsatellite Mutation Rate in Dictyostelium Discoideum, an Organism With Unusually Abundant Microsatellites
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