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Roxanne A. Van Hove
Observed names:
Roxanne A Van Hove,
Roxanne Van Hove,
Van Hove, Roxanne
Institutions:
University of Colorado Anschutz,
University of Colorado Denver
Observed institutions:
University of Colorado Boulder,
Children's Hospital Colorado,
University of Colorado Anschutz,
University of Colorado Denver
ORCID:
0000-0002-4997-2615
Observed ORCID:
0000-0002-4997-2615
OpenAlex ID:
A5025338267
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement
2019
·
Marisa W. Friederich
, Francisco A. Perez
, et al.
·
Molecular Genetics and Metabolism
·
21
The complete mitochondrial genomes of five lichenized fungi in the genus Usnea (Ascomycota: Parmeliaceae)
2018
·
Erik R. Funk
, Alexander N. Adams
, et al.
·
Mitochondrial DNA Part B
·
17
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
2025
·
Sara M Fielder
, Marisa W Friederich
, et al.
·
EMBO Molecular Medicine
·
10
PDF
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.
2024
·
Johan L K Van Hove
, Marisa W Friederich
, et al.
·
PubMed
·
10
PDF
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia
2024
·
Michael A. Swanson
, Hua Jiang
, et al.
·
Journal of Inherited Metabolic Disease
·
3
PDF
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
2025
·
Hana Antonicka
, Woranontee Weraarpachai
, et al.
·
The American Journal of Human Genetics
·
2
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
2026
·
Johan L.K. Van Hove
, Marisa W. Friederich
, et al.
·
medRxiv
·
1
PDF
A Nonketotic Hyperglycinemia Mouse Shows Wide‐Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One‐Carbon Charging, and Serine Deficiency
2026
·
Michael A. Swanson
, Hua Jiang
, et al.
·
Journal of Inherited Metabolic Disease
·
1
PDF
P258: PPA2 deficiency phenotype
2023
·
Danica Novacic
, William Gahl
, et al.
·
Genetics in Medicine Open
·
1
PDF
Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
2026
·
Johan L K Van Hove
, Marisa W Friederich
, et al.
·
EMBO Molecular Medicine
PDF
Unusual variants in NDUFAF6-associated mitochondrial disease
2026
·
Yuka Aoyama
, Julia Grafstein
, et al.
·
Rare
PDF
Novel SUCLG1 Variants in a Patient with Fatal Neonatal Onset Succinyl-Coa Ligase Deficiency
2025
·
Devlynne S. Ondusko
, Lauren Culbertson
, et al.
·
Journal of Pediatric Genetics
PDF
P012: Untargeted proteomics greatly aides the functional diagnosis of mitochondrial aminoacyl-tRNA synthetases (ARS2s)
2025
·
Johan Van Hove
, Marisa W. Friederich
, et al.
·
Genetics in Medicine Open
PDF
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Works count:
14
Citation count:
66
H-index:
4
I10-index:
4
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