Benedetta Ruzzenente

Paris, France

Last Updated: 09/26/2026

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Found 29 publications

Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Functional characterization of a biallelic MIPEP variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia.

Journal: Molecular genetics and metabolism reports

Published: March 25, 2026

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Journal: Journal of inherited metabolic disease

Published: May 19, 2025

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Journal: Life (Basel, Switzerland)

Published: November 30, 2022

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Journal: Brain : a journal of neurology

Published: June 14, 2022

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.

Journal: Molecular genetics and metabolism

Published: April 20, 2021

Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice.

Linear Density Sucrose Gradients to Study Mitoribosomal Biogenesis in Tissue-Specific Knockout Mice.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: February 19, 2021

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

Journal: Developmental medicine and child neurology

Published: December 15, 2020

Biallelic IARS2 mutations presenting as sideroblastic anemia.

Biallelic IARS2 mutations presenting as sideroblastic anemia.

Journal: Haematologica

Published: August 28, 2020

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

Journal: European journal of human genetics : EJHG

Published: January 02, 2020

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Journal: Human mutation

Published: June 16, 2019

Mitochondrial fusion is required for regulation of mitochondrial DNA replication.

Mitochondrial fusion is required for regulation of mitochondrial DNA replication.

Journal: PLoS genetics

Published: November 27, 2018

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Journal: Human molecular genetics

Published: November 13, 2018

Showing 1-12 of 29

Last Updated: 09/26/2026