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1 . Academic Journal
P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7
저자
by
Parith Wongkittichote
;
Laura Duque Lasio
;
Martina Magistrati
;
Sheel Pathak
;
Brooke Sample
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100388- (2023)
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7 . Academic Journal
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae
저자
by
Martina Magistrati
;
Alexandru Ionut Gilea
;
Maria Carla Gerra
;
Enrico Baruffini
;
Cristina Dallabona
.
소스
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10696 (2023)
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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
Martina Magistrati
;
Alexandru Ionut Gilea
;
Camilla Ceccatelli Berti
;
Enrico Baruffini
;
Cristina Dallabona
.
소스
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2178 (2023)
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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
Alexandru Ionut Gilea
;
Camilla Ceccatelli Berti
;
Martina Magistrati
;
Giulia di Punzio
;
Paola Goffrini
, et al.
소스
Genes, Vol 12, Iss 12, p 1866 (2021)
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7 .
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
저자
by
Laura Arribas-Carreira
;
Cristina Dallabona
;
Michael A Swanson
;
Joseph Farris
;
Elsebet Østergaard
, et al.
소스
Human molecular genetics
.
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7 .
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
저자
by
Parith Wongkittichote
;
Martina Magistrati
;
Joshua S. Shimony
;
Christopher D. Smyser
;
Seyed Ali Fatemi
, et al.
소스
Molecular genetics and metabolism
. 136(4)
Full Text (ScienceDirect)
Scopus
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7 .
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability
저자
by
Cristina Dallabona
;
Camilla Ceccatelli Berti
;
Martina Magistrati
;
Alexandru Ionut Gilea
;
Enrico Baruffini
, et al.
소스
Genes, Vol 12, Iss 1866, p 1866 (2021)
Genes
Open Access (OpenAIRE)
Scopus
JCR 저널정보
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