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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1984 1
1985 1
1987 2
1988 3
1989 17
1990 11
1991 6
1992 7
1994 6
1995 1
1996 10
1997 5
1998 2
1999 7
2000 11
2001 7
2002 7
2003 12
2004 7
2005 7
2006 9
2007 7
2008 6
2009 7
2010 10
2011 11
2012 11
2013 16
2014 8
2015 11
2016 7
2017 9
2018 9
2019 12
2020 7
2021 8
2022 3
2023 3
2024 1
2025 3

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257 results

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Page 1
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Among authors: bonnefont jp. Ann Clin Transl Neurol. 2024 Jun;11(6):1478-1491. doi: 10.1002/acn3.52062. Epub 2024 May 4. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free PMC article.
USP7/Maged1-mediated H2A monoubiquitination in the paraventricular thalamus: an epigenetic mechanism involved in cocaine use disorder.
Cheron J, Beccari L, Hagué P, Icick R, Despontin C, Carusone T, Defrance M, Bhogaraju S, Martin-Garcia E, Capellan R, Maldonado R, Vorspan F, Bonnefont J, de Kerchove d'Exaerde A. Cheron J, et al. Among authors: bonnefont j. Nat Commun. 2023 Dec 20;14(1):8481. doi: 10.1038/s41467-023-44120-2. Nat Commun. 2023. PMID: 38123574 Free PMC article.
Carnitine palmitoyltransferase deficiencies.
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. Bonnefont JP, et al. Mol Genet Metab. 1999 Dec;68(4):424-40. doi: 10.1006/mgme.1999.2938. Mol Genet Metab. 1999. PMID: 10607472 Review.
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
El Chehadeh S, Heide S, Quélin C, Rio M, Margot H, Geneviève D, Isidor B, Goldenberg A, Guégan C, Lesca G, Willems M, Ormières C, Caumes R, Busa T, Bonneau D, Guerrot AM, Marey I, Vera G, Marzin P, Philippe A, Garde A, Coubes C, Vincent M, Michaud V, Mignot C, Charles P, Sigaudy S, Edery P, Lacombe D, Boland A, Nowak F, Bouctot M, Humbert-Asensio ML, Simon A, Chennen K, Sabour N, Delmas C, Nicolas G, Saugier-Veber P, Lecoquierre F, Cassinari K, Keren B, Courtin T, De Sainte Agathe JM, Malan V, Barcia G, Tran Mau-Them F, Safraou H, Philippe C, Thévenon J, Chatron N, Januel L, Piton A, Haushalter V, Gérard B, Lejeune C, Faivre L, Sanlaville D, Héron D, Odent S, Nitschké P, Schluth-Bolard C, Lyonnet S, Deleuze JF, Binquet C, Dollfus H; DEFIDIAG study group. El Chehadeh S, et al. Genome Med. 2025 Oct 3;17(1):110. doi: 10.1186/s13073-025-01527-4. Genome Med. 2025. PMID: 41044778 Free PMC article.
[The phantom mandible].
Cadenat H, Bonnefont J, Barthélémy R, Fabie M, Combelles R. Cadenat H, et al. Among authors: bonnefont j. Rev Stomatol Chir Maxillofac. 1976 Oct-Nov;77(7):877-89. Rev Stomatol Chir Maxillofac. 1976. PMID: 1070103 French.
[Mitochondrial diabetes].
Rötig A, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: bonnefont jp. Journ Annu Diabetol Hotel Dieu. 1997:33-42. Journ Annu Diabetol Hotel Dieu. 1997. PMID: 9296988 Review. French. No abstract available.
257 results