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1.
Musashi-2 causes cardiac hypertrophy and heart failure by inducing mitochondrial dysfunction through destabilizing Cluh and Smyd1 mRNA.
Basic Res Cardiol
; 118(1): 46, 2023 11 03.
Article
in English
| MEDLINE | ID: mdl-37923788
2.
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.
Am J Med Genet A
; 191(4): 1089-1093, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36579410
3.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29282788
4.
Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?
Dev Neurosci
; 40(4): 337-343, 2018.
Article
in English
| MEDLINE | ID: mdl-30391947
5.
Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
Am J Med Genet A
; 164A(7): 1815-20, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24700535
6.
Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease.
J Pediatr Gastroenterol Nutr
; 69(5): e142-e145, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31259789
7.
Skin lesions in a patient with Cobalamin C disease in poor metabolic control.
J Inherit Metab Dis
; 41(2): 279-280, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29098535
8.
COVID-19: A Mitochondrial Perspective.
DNA Cell Biol
; 40(6): 713-719, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33872068
9.
Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease.
Transl Gastroenterol Hepatol
; 6: 4, 2021.
Article
in English
| MEDLINE | ID: mdl-33437892
10.
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.
Eur J Hum Genet
; 29(10): 1566-1569, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33840812
11.
Role of mitochondria in pathogenesis of type 2 diabetes mellitus.
J Diabetes Metab Disord
; 19(2): 2017-2022, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33520874
12.
Mitochondrial dysfunction in metabolic syndrome.
Biochim Biophys Acta Mol Basis Dis
; 1866(10): 165838, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32428560
13.
Mitochondrial translation defects and human disease.
J Transl Genet Genom
; 4: 71-80, 2020.
Article
in English
| MEDLINE | ID: mdl-33426504
14.
Germline AGO2 mutations impair RNA interference and human neurological development.
Nat Commun
; 11(1): 5797, 2020 11 16.
Article
in English
| MEDLINE | ID: mdl-33199684
15.
NCOR2 Is a Candidate Gene for Neurodevelopmental Disorders.
Pediatr Neurol
; 156: 1-3, 2024 Apr 07.
Article
in English
| MEDLINE | ID: mdl-38677047
16.
Dystonic cerebral palsy like presentation caused by a novel TCF20 variant.
J Mov Disord
; 2024 Apr 26.
Article
in English
| MEDLINE | ID: mdl-38664070
17.
Cockayne syndrome: A pediatric neurodegenerative disorder linking mitochondria to aging.
J Neurol Sci
; 457: 122863, 2024 Feb 15.
Article
in English
| MEDLINE | ID: mdl-38190785
18.
Limb body wall complex.
Indian J Pathol Microbiol
; 51(2): 255-6, 2008.
Article
in English
| MEDLINE | ID: mdl-18603699
19.
Declining school performance as a harbinger of a treatable neurodegenerative condition.
J Pediatr
; 160(6): 1062-2.e1, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22284562
20.
Letter to the Editor: COVID-19, Mitochondria, and Interferon.
J Interferon Cytokine Res
; 40(9): 466-467, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32744884