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Benedetta Ruzzenente

Showing results (31-40 of 36) with videos related to

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Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.
Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Brain : a Journal of Neurology|November 9, 2022
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defectLucile Boutaud, Benedetta Ruzzenente, Aude Tessier, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
American Journal of Human Genetics|April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Pageof 4

Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
Journal of Inherited Metabolic Disease|January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in AdultsDaniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.
Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Brain : a Journal of Neurology|November 9, 2022
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defectLucile Boutaud, Benedetta Ruzzenente, Aude Tessier, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
American Journal of Human Genetics|April 7, 2018
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Pageof 4