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1 . Academic Journal
Repeated witness social stress causes cardiomyocyte contractile impairment and intracellular Ca2+ derangement in female rats
저자
by
Barbetti, Margherita
;
Vilella, Rocchina
;
Naponelli, Valeria
;
Bilotti, Iolanda
;
Magistrati, Martina
, et al.
소스
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Physiology & Behavior
1 November 2023 271
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7 . Academic Journal
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
저자
by
Wongkittichote, Parith
;
Duque Lasio, Maria Laura
;
Magistrati, Martina
;
Pathak, Sheel
;
Sample, Brooke
, et al.
소스
In
Molecular Genetics and Metabolism
August 2023 139(4)
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7 . Academic Journal
P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7
저자
by
Wongkittichote, Parith
;
Lasio, Laura Duque
;
Magistrati, Martina
;
Pathak, Sheel
;
Sample, Brooke
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG‐related disorders.
저자
by
Gilea, Alexandru Ionut
;
Magistrati, Martina
;
Notaroberto, Ilenia
;
Tiso, Natascia
;
Dallabona, Cristina
, et al.
소스
IUBMB Life
. Dec2023, Vol. 75 Issue 12, p983-1002. 20p.
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7 . Academic Journal
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae.
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by
Magistrati, Martina
;
Gilea, Alexandru Ionut
;
Gerra, Maria Carla
;
Baruffini, Enrico
;
Dallabona, Cristina
.
소스
International Journal of Molecular Sciences
. Jul2023, Vol. 24 Issue 13, p10696. 34p.
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7 . Academic Journal
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
저자
by
Arribas-Carreira, Laura
;
Dallabona, Cristina
;
Swanson, Michael A
;
Farris, Joseph
;
Østergaard, Elsebet
, et al.
소스
Human Molecular Genetics; Mar2023, Vol. 32 Issue 6, p917-933, 17p
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7 . Academic Journal
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.
저자
by
Magistrati, Martina
;
Gilea, Alexandru Ionut
;
Ceccatelli Berti, Camilla
;
Baruffini, Enrico
;
Dallabona, Cristina
.
소스
International Journal of Molecular Sciences
. Feb2023, Vol. 24 Issue 3, p2178. 34p.
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7 . Academic Journal
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
저자
by
Wongkittichote, Parith
;
Magistrati, Martina
;
Shimony, Joshua S.
;
Smyser, Christopher D.
;
Fatemi, Seyed Ali
, et al.
소스
Molecular Genetics & Metabolism
. Aug2022, Vol. 136 Issue 4, p260-267. 8p.
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7 . Academic Journal
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
저자
by
Gilea, Alexandru Ionut
;
Ceccatelli Berti, Camilla
;
Magistrati, Martina
;
di Punzio, Giulia
;
Goffrini, Paola
, et al.
소스
Genes
. Dec2021, Vol. 12 Issue 12, p1866-1866. 1p.
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