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List of works by Maria Marchese

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

scientific article published on 25 April 2020

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

scientific article

Distal motor neuropathy associated with novel EMILIN1 mutation

scientific article published on 21 January 2020

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

scientific article published on 9 June 2016

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.

scientific article

Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging

scientific article published on 21 March 2020

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.

scientific article published on 15 May 2019

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.

scientific article

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

scientific article published on 2 May 2014

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

scientific article published on 25 March 2020

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

scientific article published on 04 June 2022

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

scientific article published in October 2013

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

scientific article published on 10 December 2019

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

scientific article published on 4 November 2015

Understanding Spreading Depression from Headache to Sudden Unexpected Death.

scientific article published in February 2018

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