Jean-Paul Bonnefont
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Explore the profile of Jean-Paul Bonnefont including associated specialties, affiliations and a list of published articles.
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92
Citations
1561
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Recent Articles
1.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, et al.
Ann Clin Transl Neurol
. 2024 May;
11(6):1478-1491.
PMID: 38703036
Objective: The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole...
2.
Cafournet C, Zanin S, Guimier A, Hully M, Assouline Z, Barcia G, et al.
Life (Basel)
. 2023 Feb;
13(2).
PMID: 36836802
Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5'- and 3'-ends of tRNA sequences...
3.
Shelihan I, Rossignol E, Decarie J, Bonnefont J, Brivet M, Brunel-Guitton C, et al.
JIMD Rep
. 2022 Jan;
63(1):3-10.
PMID: 35028265
Objective: To report an adolescent with infantile-onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically...
4.
Thomas S, Fayet O, Truffault F, Fadel E, Provost B, Hamza A, et al.
J Neuroinflammation
. 2021 Nov;
18(1):270.
PMID: 34789272
Predisposition to autoimmunity and inflammatory disorders is observed in patients with fragile X-associated syndromes. These patients have increased numbers of CGG triplets in the 5' UTR region of FMR1 (Fragile...
5.
Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux J, Magen M, Simon M, et al.
J Inherit Metab Dis
. 2021 May;
44(5):1235-1247.
PMID: 34014569
OTC deficiency, an inherited urea cycle disorder, is caused by mutations in the X-linked OTC gene. Phenotype-genotype correlations are well understood in males but still poorly known in females. Taking...
6.
Chatzovoulou K, Mayeur A, Gigarel N, Jabot-Hanin F, Hesters L, Munnich A, et al.
Mitochondrion
. 2021 Feb;
58:59-63.
PMID: 33639270
Mitochondrial DNA (mtDNA) mutations cause severe maternally inherited disorders, although mechanisms regulating mother-to-offspring transmission have not yet been elucidated. To investigate if mtDNA mutations affect embryonic development, we compared morphology,...
7.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, et al.
Haematologica
. 2020 Dec;
106(4):1220-1225.
PMID: 33327715
Not available.
8.
Steffann J, Monnot S, Magen M, Assouline Z, Gigarel N, Ville Y, et al.
Genet Med
. 2020 Dec;
23(4):720-731.
PMID: 33303968
Purpose: Prenatal diagnosis of mitochondrial DNA (mtDNA) disorders is challenging due to potential instability of fetal mutant loads and paucity of data connecting prenatal mutant loads to postnatal observations. Retrospective...
9.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux C, de Lonlay P, et al.
Eur J Hum Genet
. 2020 Nov;
29(3):533-538.
PMID: 33168986
Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial...
10.
Barcia G, Assouline Z, Magen M, Pennisi A, Rotig A, Munnich A, et al.
Expert Rev Mol Diagn
. 2020 Sep;
20(10):1003-1008.
PMID: 32902337
Introduction: Currently, genetic testing of mitochondrial DNA mutations includes screening for single-nucleotide variants, several base pair insertions or deletions, large-scale deletions, or relative depletion of total mitochondrial DNA content. Within...