1 - 25 of 53 results for author:"Bonneau D." in Literature citations
Results Customize
› Repeat search in UniProtKB (83)
| Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. Achilli A., Iommarini L., Olivieri A., Pala M., Hooshiar Kashani B., Reynier P., La Morgia C., Valentino M.L., Liguori R., Pizza F. et al. PLoS ONE 7:e42242-e42242(2012) · UniProtKB (45) |
| Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function. Chevrollier A., Cassereau J., Ferre M., Alban J., Desquiret-Dumas V., Gueguen N., Amati-Bonneau P., Procaccio V., Bonneau D., Reynier P. Int. J. Biochem. Cell Biol. 44:980-988(2012) · Mapped (10) |
| Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Leblond C.S., Heinrich J., Delorme R., Proepper C., Betancur C., Huguet G., Konyukh M., Chaste P., Ey E., Rastam M. et al. PLoS Genet. 8:e1002521-e1002521(2012) · Mapped (4) |
| Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Audo I., Bujakowska K., Orhan E., Poloschek C.M., Defoort-Dhellemmes S., Drumare I., Kohl S., Luu T.D., Lecompte O., Zrenner E. et al. Am. J. Hum. Genet. 90:321-330(2012) · UniProtKB (1) |
| Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? Delphin N., Hanein S., Taie L.F., Zanlonghi X., Bonneau D., Moisan J.P., Boyle C., Nitschke P., Pruvost S., Bonnefont J.P. et al. Eur. J. Hum. Genet. 20:352-356(2012) · Mapped (1) |
| Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. Guillet V., Gueguen N., Cartoni R., Chevrollier A., Desquiret V., Angebault C., Amati-Bonneau P., Procaccio V., Bonneau D., Martinou J.C. et al. FASEB J. 25:1618-1627(2011) · Mapped (3) |
| Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Krug P., Moriniere V., Marlin S., Koubi V., Gabriel H.D., Colin E., Bonneau D., Salomon R., Antignac C., Heidet L. |
| Heterozygous OPA1 mutations in Behr syndrome. Marelli C., Amati-Bonneau P., Reynier P., Layet V., Layet A., Stevanin G., Brissaud E., Bonneau D., Durr A., Brice A. Brain 134:e169; author reply 2011:e170-e170(2011) · Mapped (10) |
| [From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders]. Lenaers G., Amati-Bonneau P., Delettre C., Chevrollier A., Verny C., Milea D., Procaccio V., Bonneau D., Hamel C., Reynier P. Med Sci (Paris) 26:836-841(2010) · Mapped (1) |
| Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Verny C., Guegen N., Desquiret V., Chevrollier A., Prundean A., Dubas F., Cassereau J., Ferre M., Amati-Bonneau P., Bonneau D. et al. Mitochondrion 11:70-75(2011) · UniProtKB (13) |
| C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Alazami A.M., Schneider S.A., Bonneau D., Pasquier L., Carecchio M., Kojovic M., Steindl K., de Kerdanet M., Nezarati M.M., Bhatia K.P. et al. Clin. Genet. 78:585-590(2010) · Mapped (3) |
| Multi-system neurological disease is common in patients with OPA1 mutations. Yu-Wai-Man P., Griffiths P.G., Gorman G.S., Lourenco C.M., Wright A.F., Auer-Grumbach M., Toscano A., Musumeci O., Valentino M.L., Caporali L. et al. Brain 133:771-786(2010) · Mapped (10) |
| Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. Guillet V., Chevrollier A., Cassereau J., Letournel F., Gueguen N., Richard L., Desquiret V., Verny C., Procaccio V., Amati-Bonneau P. et al. Mitochondrion 10:115-124(2010) · UniProtKB (13) |
| Phenotypic spectrum of MFN2 mutations in the Spanish population. Casasnovas C., Banchs I., Cassereau J., Gueguen N., Chevrollier A., Martinez-Matos J.A., Bonneau D., Volpini V. J. Med. Genet. 47:249-256(2010) · Mapped (5) |
| Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging. Alao M.J., Bonneau D., Holder-Espinasse M., Goizet C., Manouvrier-Hanu S., Mezel A., Petit F., Subtil D., Magdelaine C., Lacombe D. Eur J Med Genet 53:19-22(2010) · Mapped (6) |
| Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Guillet V., Gueguen N., Verny C., Ferre M., Homedan C., Loiseau D., Procaccio V., Amati-Bonneau P., Bonneau D., Reynier P. et al. Neurogenetics 11:127-133(2010) · Mapped (5) |
| MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. Le Meur N., Holder-Espinasse M., Jaillard S., Goldenberg A., Joriot S., Amati-Bonneau P., Guichet A., Barth M., Charollais A., Journel H. et al. |
| Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. Nochez Y., Arsene S., Gueguen N., Chevrollier A., Ferre M., Guillet V., Desquiret V., Toutain A., Bonneau D., Procaccio V. et al. |
| Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Ferre M., Bonneau D., Milea D., Chevrollier A., Verny C., Dollfus H., Ayuso C., Defoort S., Vignal C., Zanlonghi X. et al. Hum. Mutat. 30:E692-E705(2009) · UniProtKB (1) · Mapped (10) |
| A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Huber C., Delezoide A.L., Guimiot F., Baumann C., Malan V., Le Merrer M., Da Silva D.B., Bonneau D., Chatelain P., Chu C. et al. Eur. J. Hum. Genet. 17:395-400(2009) · Mapped (4) |
| Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Cassereau J., Chevrollier A., Gueguen N., Malinge M.C., Letournel F., Nicolas G., Richard L., Ferre M., Verny C., Dubas F. et al. Neurogenetics 10:145-150(2009) · Mapped (6) |
| Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Verny C., Amati-Bonneau P., Letournel F., Person B., Dib N., Malinge M.C., Slama A., Le Marechal C., Ferec C., Procaccio V. et al. Diabetes Metab. 34:620-626(2008) · Mapped (5) |
| Reversible optic neuropathy with OPA1 exon 5b mutation. Cornille K., Milea D., Amati-Bonneau P., Procaccio V., Zazoun L., Guillet V., El Achouri G., Delettre C., Gueguen N., Loiseau D. et al. Ann. Neurol. 63:667-671(2008) · Mapped (10) |
| Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Martin L., Maitre F., Bonicel P., Daudon P., Verny C., Bonneau D., Le Saux O., Chassaing N. Arch Dermatol 144:301-306(2008) · Mapped (6) |
| Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy. Verny C., Loiseau D., Scherer C., Lejeune P., Chevrollier A., Gueguen N., Guillet V., Dubas F., Reynier P., Amati-Bonneau P. et al. Neurology 70:1152-1153(2008) · Mapped (10) |