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115 results

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Page 1
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H. Laurier V, et al. Eur J Hum Genet. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg.5201688. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823392
New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.
Pierron D, Rocher C, Amati-Bonneau P, Reynier P, Martin-Négrier ML, Allouche S, Batandier C, Mousson de Camaret B, Godinot C, Rotig A, Feldmann D, Bellanne-Chantelot C, Arveiler B, Pennarun E, Rossignol R, Crouzet M, Murail P, Thoraval D, Letellier T. Pierron D, et al. BMC Med Genet. 2008 May 7;9:41. doi: 10.1186/1471-2350-9-41. BMC Med Genet. 2008. PMID: 18462486 Free PMC article.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A, Gaignard P, Barcia G, Assouline Z, Berat CM, Barth M, Damaj L, Laborde N, Abi-Warde MT, Chabrol B, De Lonlay P, Desguerre I, Goldenberg A, Gonzales E, Jacquemin E, Amati-Bonneau P, Bonneau D, Abadie V, Bonnemains C, Broue P, De Saint-Martin A, Durand P, Fouilhoux A, Isidor B, Jaroussie M, Jedraszak G, Maurey H, Mention K, Odent SS, Pasquier L, Rougeot-Jung C, Gitiaux C, Roux CJ, Boddaert N, Munnich A, Schiff M. Rötig A, et al. Among authors: amati bonneau p. Neurol Genet. 2024 Jul 3;10(4):e200167. doi: 10.1212/NXG.0000000000200167. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 38975049 Free PMC article.
Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.
Delibes C, Ferré M, Rozet M, Desquiret-Dumas V, Descatha A, Gohier B, Gohier P, Amati-Bonneau P, Milea D, Reynier P. Delibes C, et al. Among authors: amati bonneau p. J Transl Med. 2024 May 25;22(1):495. doi: 10.1186/s12967-024-05334-0. J Transl Med. 2024. PMID: 38796496 Free PMC article.
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: amati bonneau p. 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.
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi M, Charif M, Kraoua I, Fassatoui M, Dallali H, Desquiret-Dumas V, Bris C, Goudenège D, Drissi C, Galaï S, Ouerhani S, Procaccio V, Amati-Bonneau P, Abdelhak S, Ben Youssef-Turki I, Lenaers G, Kefi R. Hechmi M, et al. Among authors: amati bonneau p. Biosci Rep. 2022 Sep 30;42(9):BSR20220194. doi: 10.1042/BSR20220194. Biosci Rep. 2022. PMID: 36093993 Free PMC article.
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
Charif M, Chevrollier A, Gueguen N, Kane S, Bris C, Goudenège D, Desquiret-Dumas V, Meunier I, Mochel F, Jeanjean L, Varenne F, Procaccio V, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: amati bonneau p. Genes (Basel). 2022 Jul 5;13(7):1202. doi: 10.3390/genes13071202. Genes (Basel). 2022. PMID: 35885985 Free PMC article.
115 results