Suchergebnisse - "Garone, Caterina"

PubPharm (46)

1

Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage

enthalten in: European journal of human genetics : EJHG | 2023

von Garone, C.

CommentOn: Eur J Hum Genet. 2023 Dec;31(12):1414-1420. - PMID 37468577

2

Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder

enthalten in: Neurology. Genetics | 2023

von Pietra, A. | Palombo, F. | Giannotta, M. | +8

3

From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases

enthalten in: Life (Basel, Switzerland) | 2022

von Garone, C. | Pietra, A. | Nesci, S.

4

A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit

enthalten in: Nature communications | 2022

von Rebelo-Guiomar, P. | Pellegrino, S. | Dent, K. | +12

5

The Transcriptome of SH-SY5Y at Single-Cell Resolution : A CITE-Seq Data Analysis Workflow

enthalten in: Methods and protocols | 2021

von Mercatelli, D. | Balboni, N. | Giorgio, F. | +3

6

SARS-CoV-2 infection in patients with primary mitochondrial diseases : Features and outcomes in Italy

enthalten in: Mitochondrion | 2021

von Mancuso, M. | La Morgia, C. | Valentino, M. | +10

7

Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy

enthalten in: American journal of physiology. Gastrointestinal and liver physiology | 2021

von Boschetti, E. | D'Angelo, R. | Tardio, M. | +18

8

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement

enthalten in: Molecular genetics and metabolism | 2020

von Protasoni, M. | Bruno, C. | Donati, M. | +7

9

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

enthalten in: Nucleic acids research | 2019

von Van Haute, L. | Lee, S. | McCann, B. | +11

10

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

enthalten in: Annals of neurology | 2019

von Domínguez-González, C. | Madruga-Garrido, M. | Mavillard, F. | +24

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