Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

34 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Among authors: ruzzenente b. Hum Mutat. 2020 Feb;41(2):397-402. doi: 10.1002/humu.23937. Epub 2019 Nov 11. Hum Mutat. 2020. PMID: 31680380
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Among authors: ruzzenente b. Eur J Hum Genet. 2021 Mar;29(3):533-538. doi: 10.1038/s41431-020-00757-x. Epub 2020 Nov 9. Eur J Hum Genet. 2021. PMID: 33168986 Free PMC article.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, Besmond C, Roux CJ, Boddaert N, Desguerre I, Thorburn DR, Bratkovic D, Munnich A, Bonnefont JP, Rötig A, Steffann J. Barcia G, et al. Among authors: ruzzenente b. Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710. Haematologica. 2021. PMID: 33327715 Free PMC article.
Mouse models for mitochondrial diseases.
Ruzzenente B, Rötig A, Metodiev MD. Ruzzenente B, et al. Hum Mol Genet. 2016 Oct 1;25(R2):R115-R122. doi: 10.1093/hmg/ddw176. Epub 2016 Jun 21. Hum Mol Genet. 2016. PMID: 27329762 Review.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A. Sánchez-Caballero L, et al. Among authors: ruzzenente b. Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374773 Free PMC article.
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.
de Beaurepaire I, Grévent D, Rio M, Desguerre I, de Lonlay P, Levy R, Dangouloff-Ros V, Bonnefont JP, Barcia G, Funalot B, Besmond C, Metodiev MD, Ruzzenente B, Assouline Z, Munnich A, Rötig A, Boddaert N. de Beaurepaire I, et al. Among authors: ruzzenente b. J Med Genet. 2018 Jun;55(6):378-383. doi: 10.1136/jmedgenet-2017-105094. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358270
34 results