Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission-Reference-Cited by-同舟云学术

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

Published:2021-06-16 Issue:8 Volume:58 Page:543-546
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Tolomeo Deborah,Rubegni Anna,Nesti Claudia,Barghigiani Melissa,Battini Roberta,D'Amore Francesca,Doccini Stefano,Donati Maria Alice,Galatolo Daniele,Giglio Sabrina,Guarducci Silvia,Pantaleo Marilena,Pasquariello Rosa,Procopio Elena,Pochiero Francesca,Tessa Alessandra,Santorelli Filippo M M^ORCID

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Tan J , Wagner M , Stenton SL , Strom TM , Wortmann SB , Prokisch H , Meitinger T , Oexle K , Klopstock T . Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine 2020;54.doi:10.1016/j.ebiom.2020.102730

2. Genetics of mitochondrial diseases: identifying mutations to help diagnosis;Stenton;EBioMedicine,2020

3. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

4. Diagnostic criteria for respiratory chain disorders in adults and children

5. Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Investigating copy number variants in schizophrenia pedigrees using a new consensus pipeline called PECAN;Scientific Reports;2024-07-30

2. Decoding metabolic signatures in Alzheimer’s disease: a mitochondrial perspective;Cell Death Discovery;2023-12-01

3. PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients;Frontiers in Pharmacology;2023-07-26

4. DELE1 tracks perturbed protein import and processing in human mitochondria;Nature Communications;2022-04-06

5. Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration;Biomedicines;2021-07-17