Jardel C - Search Results

1

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

Chapiro E, Feldmann D, Denoyelle F, Sternberg D, Jardel C, Eliot MM, Bouccara D, Weil D, Garabédian EN, Couderc R, Petit C, Marlin S. Chapiro E, et al. Among authors: jardel c. Eur J Hum Genet. 2002 Dec;10(12):851-6. doi: 10.1038/sj.ejhg.5200894. Eur J Hum Genet. 2002. PMID: 12461693

2

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A. Sternberg D, et al. Among authors: jardel c. Brain. 2001 May;124(Pt 5):984-94. doi: 10.1093/brain/124.5.984. Brain. 2001. PMID: 11335700

3

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.

Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: jardel c. J Med Genet. 2013 Oct;50(10):704-14. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11. J Med Genet. 2013. PMID: 23847141 Free PMC article.

4

A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy.

Mahjoub S, Sternberg D, Boussaada R, Filaut S, Gmira F, Mechmech R, Jardel C, Arab SB. Mahjoub S, et al. Among authors: jardel c. Diagn Mol Pathol. 2007 Dec;16(4):238-42. doi: 10.1097/PDM.0b013e3180cc313b. Diagn Mol Pathol. 2007. PMID: 18043288

5

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A. Auré K, et al. Among authors: jardel c. Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23. Neurology. 2013. PMID: 24153443

6

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.

Bataillard M, Chatzoglou E, Rumbach L, Sternberg D, Tournade A, Laforêt P, Jardel C, Maisonobe T, Lombès A. Bataillard M, et al. Among authors: jardel c. Neurology. 2001 Feb 13;56(3):405-7. doi: 10.1212/wnl.56.3.405. Neurology. 2001. PMID: 11171912

7

[Misdiagnosis of mitochondrial myopathies: a study of 12 thymectomized patients].

Ben Yaou R, Laforêt P, Bécane HM, Jardel C, Sternberg D, Lombès A, Eymard B. Ben Yaou R, et al. Among authors: jardel c. Rev Neurol (Paris). 2006 Mar;162(3):339-46. doi: 10.1016/s0035-3787(06)75020-2. Rev Neurol (Paris). 2006. PMID: 16585889 French.

8

Functional characterization of novel mutations in the human cytochrome b gene.

Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforêt P, Jardel C, Godinot C, Lombès A. Legros F, et al. Among authors: jardel c. Eur J Hum Genet. 2001 Jul;9(7):510-8. doi: 10.1038/sj.ejhg.5200678. Eur J Hum Genet. 2001. PMID: 11464242

9

Mitochondrial damage associated with long-term antiretroviral treatment: associated alteration or causal disorder?

Vittecoq D, Jardel C, Barthélémy C, Escaut L, Cheminot N, Chapin S, Sternberg D, Maisonobe T, Lombès A. Vittecoq D, et al. Among authors: jardel c. J Acquir Immune Defic Syndr. 2002 Nov 1;31(3):299-308. doi: 10.1097/00126334-200211010-00005. J Acquir Immune Defic Syndr. 2002. PMID: 12439205

10

[Myopathy-lipomatosis associated with A8344G mitochondrial DNA mutation].

Auré K, Sternberg D, Maisonobe T, Herson S, Jardel C, Blondy P, Lombès A, Eymard B, Laforêt P. Auré K, et al. Among authors: jardel c. Rev Neurol (Paris). 2003 Dec;159(12):1163-8. Rev Neurol (Paris). 2003. PMID: 14978417 French.

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