Benedetta Ruzzenente | Institut Imagine

Presentation

PhD, HDR, CRCN

Benedetta Ruzzenente

Ophthalmic genetics

Contact :

01 42 75 43 23

benedetta.ruzzenente@institutimagine.org

About

Scientific Publications

Publications

2026

Functional characterization of a biallelic variant associated with global de..., Mol Genet Metab Rep
2026

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficien..., J Inherit Metab Dis
2023

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurolog..., Life (Basel)
2022

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus..., Brain
2021

Variants in the MIPEP gene presenting with complex neurological phenotype wit..., Mol Genet Metab
2021

Biallelic mutations presenting as sideroblastic anemia., Haematologica
2021

Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-..., Methods Mol Biol
2021

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic di..., Dev Med Child Neurol
2019

Clinical, neuroimaging and biochemical findings in patients and patient fibro..., Hum Mutat
2018

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein..., Hum Mol Genet
2018

Inhibition of mitochondrial translation in fibroblasts from a patient express..., Hum Mutat
2018

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso..., Am J Hum Genet
2018

High predictive value of brain MRI imaging in primary mitochondrial respirato..., J Med Genet
2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ..., Am J Hum Genet
2016

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and..., Am J Hum Genet

Faire un don

Presentation

About

Scientific Publications

Functional characterization of a biallelic variant associated with global de..., Mol Genet Metab Rep

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficien..., J Inherit Metab Dis

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurolog..., Life (Basel)

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus..., Brain

Variants in the MIPEP gene presenting with complex neurological phenotype wit..., Mol Genet Metab

Biallelic mutations presenting as sideroblastic anemia., Haematologica

Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-..., Methods Mol Biol

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic di..., Dev Med Child Neurol

Clinical, neuroimaging and biochemical findings in patients and patient fibro..., Hum Mutat

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein..., Hum Mol Genet

Inhibition of mitochondrial translation in fibroblasts from a patient express..., Hum Mutat

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso..., Am J Hum Genet

High predictive value of brain MRI imaging in primary mitochondrial respirato..., J Med Genet

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ..., Am J Hum Genet

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and..., Am J Hum Genet