Anne Chiaramello
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Explore the profile of Anne Chiaramello including associated specialties, affiliations and a list of published articles.
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27
Citations
407
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Recent Articles
1.
Uittenbogaard M, Gropman A, Whitehead M, Brantner C, Gropman E, Chiaramello A
Int J Mol Sci
. 2024 Feb;
25(3).
PMID: 38338665
We report the case of a four-year-old male patient with a complex medical history born prematurely as the result of intrauterine growth restriction due to placental insufficiency. His clinical manifestations...
2.
Uittenbogaard M, Sen K, Whitehead M, Brantner C, Wang Y, Wong L, et al.
Front Cell Dev Biol
. 2022 Jan;
9:767407.
PMID: 35004675
In this study, we aimed to establish the mitochondrial etiology of the proband's progressive neurodegenerative disease suggestive of an atypical Leigh syndrome, by determining the proband's pathogenic variants. Brain MRI...
3.
Li H, Uittenbogaard M, Navarro R, Ahmed M, Gropman A, Chiaramello A, et al.
Mol Omics
. 2022 Jan;
18(3):196-205.
PMID: 34982085
MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes) is a progressive neurodegenerative disease caused by pathogenic mitochondrial DNA variants. The pathogenic mechanism of MELAS remains enigmatic due to the exceptional clinical...
4.
Li H, Uittenbogaard M, Hao L, Chiaramello A
Metabolites
. 2021 Apr;
11(4).
PMID: 33920115
Mitochondria are dynamic multitask organelles that function as hubs for many metabolic pathways. They produce most ATP via the oxidative phosphorylation pathway, a critical pathway that the brain relies on...
5.
Uittenbogaard M, Chiaramello A
Mol Genet Metab
. 2020 Jul;
131(1-2):38-52.
PMID: 32624334
Maternally inherited mitochondrial respiratory disorders are rare, progressive, and multi-systemic diseases that remain intractable, with no effective therapeutic interventions. Patients share a defective oxidative phosphorylation pathway responsible for mitochondrial ATP...
6.
Gropman A, Uittenbogaard M, Brantner C, Wang Y, Wong L, Chiaramello A
Mol Genet Metab Rep
. 2020 Jun;
24:100609.
PMID: 32489883
Alternative hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder with an extensive phenotypic variability, resulting in a challenging clinical diagnosis. About 75% of AHC cases are caused by pathogenic...
7.
Gropman A, Chiaramello A
Mol Genet Metab Rep
. 2019 Mar;
19:100462.
PMID: 30815362
No abstract available.
8.
Uittenbogaard M, Wang H, Zhang V, Wong L, Brantner C, Gropman A, et al.
Mol Genet Metab
. 2019 Feb;
126(4):429-438.
PMID: 30709774
In this study, we report the metabolic consequences of the m.1630 A > G variant in fibroblasts from the symptomatic proband affected with the mitochondrial encephalomyopathy lactic acidosis and stroke-like...
9.
Uittenbogaard M, Gropman A, Brantner C, Chiaramello A
Clin Case Rep
. 2018 Dec;
6(12):2376-2384.
PMID: 30564332
Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous variants. We provide the first evidence that these variants impair mitochondrial energy metabolism....
10.
Uittenbogaard M, Chiaramello A
Biomark J
. 2018 Oct;
1(1).
PMID: 30272053
Mitochondrial respiratory disorders are incurable progressive degenerative diseases with multi-organ system manifestations. These orphan diseases are caused by mutations in the nuclear or mitochondrial genome affecting the oxidative phosphorylation (OXPHOS)...