Amati-Bonneau P - Search Results

1

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. Marelli C, et al. Brain. 2011 Apr;134(Pt 4):e169; author reply e170. doi: 10.1093/brain/awq306. Epub 2010 Nov 26. Brain. 2011. PMID: 21112924 No abstract available.

2

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiéry Y, Reynier P, Bonneau D. Amati-Bonneau P, et al. Am J Ophthalmol. 2003 Dec;136(6):1170-1. doi: 10.1016/s0002-9394(03)00665-2. Am J Ophthalmol. 2003. PMID: 14644237

3

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Baris O, et al. Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152. Hum Mutat. 2003. PMID: 14961560

4

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.

Amati-Bonneau P, Pasquier L, Lainey E, Ferré M, Odent S, Malthièry Y, Bonneau D, Reynier P. Amati-Bonneau P, et al. Clin Genet. 2005 Jan;67(1):102-3. doi: 10.1111/j.1399-0004.2004.00358.x. Clin Genet. 2005. PMID: 15617556 No abstract available.

5

eOPA1: an online database for OPA1 mutations.

Ferré M, Amati-Bonneau P, Tourmen Y, Malthièry Y, Reynier P. Ferré M, et al. Hum Mutat. 2005 May;25(5):423-8. doi: 10.1002/humu.20161. Hum Mutat. 2005. PMID: 15832306

6

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].

Verny C, Amati-Bonneau P, Dubas F, Malthiéry Y, Reynier P, Bonneau D. Verny C, et al. Rev Neurol (Paris). 2005 Apr;161(4):451-4. doi: 10.1016/s0035-3787(05)85075-1. Rev Neurol (Paris). 2005. PMID: 15924081 French.

7

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthièry Y, Bonneau D, Lenaers G, Reynier P. Amati-Bonneau P, et al. Ann Neurol. 2005 Dec;58(6):958-63. doi: 10.1002/ana.20681. Ann Neurol. 2005. PMID: 16240368

8

Mitochondrial dynamics and disease, OPA1.

Olichon A, Guillou E, Delettre C, Landes T, Arnauné-Pelloquin L, Emorine LJ, Mils V, Daloyau M, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P. Olichon A, et al. Biochim Biophys Acta. 2006 May-Jun;1763(5-6):500-9. doi: 10.1016/j.bbamcr.2006.04.003. Epub 2006 Apr 20. Biochim Biophys Acta. 2006. PMID: 16737747 Free article. Review.

9

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.

Olichon A, Landes T, Arnauné-Pelloquin L, Emorine LJ, Mils V, Guichet A, Delettre C, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P. Olichon A, et al. J Cell Physiol. 2007 May;211(2):423-30. doi: 10.1002/jcp.20950. J Cell Physiol. 2007. PMID: 17167772

10

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.

Loiseau D, Chevrollier A, Verny C, Guillet V, Gueguen N, Pou de Crescenzo MA, Ferré M, Malinge MC, Guichet A, Nicolas G, Amati-Bonneau P, Malthièry Y, Bonneau D, Reynier P. Loiseau D, et al. Ann Neurol. 2007 Apr;61(4):315-23. doi: 10.1002/ana.21086. Ann Neurol. 2007. PMID: 17444508

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