Paturneau-Jouas M - Search Results

1

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B. Ben Ammar A, et al. Among authors: paturneau jouas m. J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11. J Neurol. 2010. PMID: 20012313

2

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D. Richard P, et al. Among authors: paturneau jouas m. Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b. Neurology. 2008. PMID: 19064877

3

The origin of tubular aggregates in human myopathies.

Chevessier F, Bauché-Godard S, Leroy JP, Koenig J, Paturneau-Jouas M, Eymard B, Hantaï D, Verdière-Sahuqué M. Chevessier F, et al. Among authors: paturneau jouas m. J Pathol. 2005 Nov;207(3):313-23. doi: 10.1002/path.1832. J Pathol. 2005. PMID: 16178054

4

Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging.

Chevessier F, Marty I, Paturneau-Jouas M, Hantaï D, Verdière-Sahuqué M. Chevessier F, et al. Among authors: paturneau jouas m. Neuromuscul Disord. 2004 Mar;14(3):208-16. doi: 10.1016/j.nmd.2003.11.007. Neuromuscul Disord. 2004. PMID: 15036331

5

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).

Seibel P, Degoul F, Bonne G, Romero N, François D, Paturneau-Jouas M, Ziegler F, Eymard B, Fardeau M, Marsac C, et al. Seibel P, et al. J Neurol Sci. 1991 Oct;105(2):217-24. doi: 10.1016/0022-510x(91)90148-z. J Neurol Sci. 1991. PMID: 1661776

6

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle.

Romero NB, Lestienne P, Marsac C, Paturneau-Jouas M, Nelson I, François D, Eymard B, Fardeau M. Romero NB, et al. J Neurol Sci. 1989 Nov;93(2-3):297-309. doi: 10.1016/0022-510x(89)90199-8. J Neurol Sci. 1989. PMID: 2556504

7

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.

Degoul F, Nelson I, Lestienne P, Francois D, Romero N, Duboc D, Eymard B, Fardeau M, Ponsot G, Paturneau-Jouas M, et al. Degoul F, et al. J Neurol Sci. 1991 Feb;101(2):168-77. doi: 10.1016/0022-510x(91)90042-6. J Neurol Sci. 1991. PMID: 1851820

8

Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency.

Romero NB, Marsac C, Paturneau-Jouas M, Ogier H, Magnier S, Fardeau M. Romero NB, et al. Among authors: paturneau jouas m. Neuromuscul Disord. 1993 Jan;3(1):31-42. doi: 10.1016/0960-8966(93)90039-m. Neuromuscul Disord. 1993. PMID: 8392409 Review.

9

Secondary metabolic defects in spinal muscular atrophy type II.

Harpey JP, Charpentier C, Paturneau-Jouas M, Renault F, Romero N, Fardeau M. Harpey JP, et al. Lancet. 1990 Sep 8;336(8715):629-30. doi: 10.1016/0140-6736(90)93426-p. Lancet. 1990. PMID: 1975398 No abstract available.

10

Assessing gene and cell therapies applied in striated skeletal and cardiac muscle: is there a role for nuclear magnetic resonance?

Leroy-Willig A, Fromes Y, Paturneau-Jouas M, Carlier P. Leroy-Willig A, et al. Among authors: paturneau jouas m. Neuromuscul Disord. 2003 Jun;13(5):397-407. doi: 10.1016/s0960-8966(03)00035-x. Neuromuscul Disord. 2003. PMID: 12798795 Review.

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