E-LIB Suche - Ergebnisse für: Ziosi, Marcello

1

Discovery of target genes and pathways at GWAS loci by pool..:

Morris, John A. ; Caragine, Christina ; Daniloski, Zharko...
Science. 380 (2023) 6646 - p. , 2023

Link: https://doi.org/10.1126/..

2

COVID-19 Causes Ferroptosis and Oxidative Stress in Human E..:

Jankauskas, Stanislovas S. ; Kansakar, Urna ; Sardu, Celestino...
Antioxidants. 12 (2023) 2 - p. 326 , 2023

Link: https://doi.org/10.3390/..

3

An autoimmune disease risk variant: A trans master regulato..:

Brandt, Margot ; Kim-Hellmuth, Sarah ; Ziosi, Marcello...
PLOS Genetics. 17 (2021) 7 - p. e1009684 , 2021

Link: https://doi.org/10.1371/..

4

Coenzyme Q10 modulates sulfide metabolism and links the mit..:

González-García, Pilar ; Hidalgo-Gutiérrez, Agustín ; Mascaraque, Cristina...
Human Molecular Genetics. 29 (2020) 19 - p. 3296-3311 , 2020

Link: https://doi.org/10.1093/..

5

A polyclonal allelic expression assay for detecting regulat..:

Brandt, Margot ; Gokden, Alper ; Ziosi, Marcello.
Genome Medicine. 12 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

6

Transcriptomic signatures across human tissues identify fun..:

Ferraro, Nicole M. ; Strober, Benjamin J. ; Einson, Jonah...
Science. 369 (2020) 6509 - p. , 2020

Link: https://doi.org/10.1126/..

7

Metabolic studies of a patient harbouring a novel S487L mut..:

Arita, Juliana Harumi ; Barros, Mário H. ; Ravagnani, Felipe Gustavo...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1864 (2018) 5 - p. 1896-1903 , 2018

Link: https://doi.org/10.1016/..

8

A splice-site mutation in USMG5 causes Leigh Syndrome due t..:

Barca, Emanuele ; Falgarona, Marti Juanola ; Emmanuele, Valentina...
Neurology. 90 (2018) 15_supplement - p. , 2018

Link: https://doi.org/10.1212/..

9

CoQ10 supplementation rescues nephrotic syndrome through no..:

Kleiner, Giulio ; Barca, Emanuele ; Ziosi, Marcello...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1864 (2018) 11 - p. 3708-3722 , 2018

Link: https://doi.org/10.1016/..

10

USMG5 Ashkenazi Jewish founder mutation impairs mitochondri..:

Barca, Emanuele ; Ganetzky, Rebecca D ; Potluri, Prasanth...
Human Molecular Genetics. 27 (2018) 19 - p. 3305-3312 , 2018

Link: https://doi.org/10.1093/..

11

The Role of Sulfide Oxidation Impairment in the Pathogenesi..:

Quinzii, Catarina M. ; Luna-Sanchez, Marta ; Ziosi, Marcello...
Frontiers in Physiology. 8 (2017) - p. , 2017

Link: https://doi.org/10.3389/..

12

Novel recessive mutations in COQ4 cause severe infantile ca..:

Sondheimer, Neal ; Hewson, Stacy ; Cameron, Jessie M....
Molecular Genetics and Metabolism Reports. 12 (2017) - p. 23-27 , 2017

Link: https://doi.org/10.1016/..

13

Coenzyme Q deficiency causes impairment of the sulfide oxid..:

Ziosi, Marcello ; Di Meo, Ivano ; Kleiner, Giulio...
Neurology. 88 (2017) 16_supplement - p. , 2017

Link: https://doi.org/10.1212/..

14

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Ce..:

Barca, Emanuele ; Kleiner, Giulio ; Tang, Guomei...
Journal of Neuropathology & Experimental Neurology. 75 (2016) 7 - p. 663-672 , 2016

Link: https://doi.org/10.1093/..

15

Coenzyme Q deficiency causes impairment of the sulfide oxid..:

Ziosi, Marcello ; Di Meo, Ivano ; Kleiner, Giulio...
EMBO Molecular Medicine. 9 (2016) 1 - p. 96-111 , 2016

Link: https://doi.org/10.15252..