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Publications by Paola Moyers-Pérez

An Uncommon Inheritance Pattern in Niemann-Pick Disease Type C: Identification of Probable Paternal Germline Mosaicism in a Mexican Family

BMC Neurology
MedicineNeurology
2016English

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Functional Analysis of Niemann-Pick Disease Type C Family Protein, NPC1a, in Drosophila Melanogaster

Development (Cambridge)
Developmental BiologyMolecular Biology
2019English

The Spectrum of Niemann-Pick Type C Disease in Greece

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2017English

Ambulatory Anaesthesia in a Patient With Niemann-Pick Disease Type C

Journal of Anesthesia & Clinical Research
2015English

Niemann-Pick Disease Type C in Adulthood - A Psychiatric and Neurological Disorder

European Neurological Review
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2010English

Niemann-Pick Disease Type C: Cataplexy and Hypocretin in Cerebrospinal Fluid

Tohoku Journal of Experimental Medicine
BiochemistryMedicineGeneticsMolecular Biology
2006English

Genetic and Laboratory Diagnostic Approach in Niemann Pick Disease Type C

Journal of Neurology
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2014English

Endogenous and Synthetic Neurosteroids in Treatment of Niemann–Pick Type C Disease

Brain Research Reviews
2008English

Niemann-Pick Disease

Turkish Journal of Haematology
Hematology
2011English

Abnormal LAMP1 Glycosylation May Play a Role in Niemann-Pick Disease, Type C Pathology

PLoS ONE
Multidisciplinary
2020English

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