Concepedia

An I. Jonckheere

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Publications

17

Citations

821

H-Index

16

Active since

2006

Affiliations

Radboud University Nijmegen(Current)

Radboud University Medical Center

Ghent University Hospital

Vrije Universiteit Brussel

Antwerp University Hospital

An I. Jonckheere is an author at Radboud University Nijmegen specializing in life sciences, mitochondrial disorders, and mitochondrial biology.

ORCID

Publications per year

2006–2023

17

Publications

17

A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

An I. Jonckheere, Marije Hogeveen, Leo Nijtmans et al. · Journal of Medical Genetics · 2007 · 118 citations · Full text

, , +17

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

An I. Jonckheere, G. Herma Renkema, Maaike Bras et al. · Brain · 2013 · 103 citations

, , +12

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

Saskia B. Wortmann, Richard J. Rodenburg, An I. Jonckheere et al. · Brain · 2008 · 98 citations · Full text

, , +17

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit Repp, Elisa Mastantuono, Charlotte L. Alston et al. · Orphanet Journal of Rare Diseases · 2018 · 87 citations · Full text

, , +17

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

Bas F.J. Wanschers, Radek Szklarczyk, Mariël A.M. van den Brand et al. · Human Molecular Genetics · 2014 · 78 citations · Full text

, , +14

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