Romero NB - Search Results

1

Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

Lombes A, Romero NB, Touati G, Frachon P, Cheval MA, Giraud M, Simon D, Ogier de Baulny H. Lombes A, et al. Among authors: romero nb. J Inherit Metab Dis. 1996;19(3):286-95. doi: 10.1007/BF01799256. J Inherit Metab Dis. 1996. PMID: 8803770

2

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome.

Lombès A, Diaz C, Romero NB, Ziegler F, Fardeau M. Lombès A, et al. Among authors: romero nb. Neuromuscul Disord. 1992;2(5-6):323-30. doi: 10.1016/s0960-8966(06)80003-9. Neuromuscul Disord. 1992. PMID: 1300181

3

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

4

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

5

Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children.

Possekel S, Lombes A, Ogier de Baulny H, Cheval MA, Fardeau M, Kadenbach B, Romero NB. Possekel S, et al. Among authors: romero nb. Histochem Cell Biol. 1995 Jan;103(1):59-68. doi: 10.1007/BF01464476. Histochem Cell Biol. 1995. PMID: 7736281 Clinical Trial.

6

Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression.

Romero NB, Nivoche Y, Lunardi J, Bruneau B, Cheval MA, Hillaire D, Fardeau M. Romero NB, et al. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):547-51. doi: 10.1016/0960-8966(93)90113-x. Neuromuscul Disord. 1993. PMID: 8186709

7

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. Neuromuscul Disord. 1993 Jan;3(1):31-42. doi: 10.1016/0960-8966(93)90039-m. Neuromuscul Disord. 1993. PMID: 8392409 Review.

8

Morphological studies of skeletal muscle in lactic acidosis.

Romero NB, Lombès A, Touati G, Rigal O, Frachon P, Cheval MA, Giraud M, Possekel S, Fardeau M, Ogier de Baulny H. Romero NB, et al. J Inherit Metab Dis. 1996;19(4):528-34. doi: 10.1007/BF01799113. J Inherit Metab Dis. 1996. PMID: 8884576 Review.

9

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.

Romero NB, Récan D, Rigal O, Leturcq F, Llense S, Barbot JC, Deburgrave N, Cheval MA, Deniau F, Kaplan JC. Romero NB, et al. Neuromuscul Disord. 1997 Dec;7(8):499-504. doi: 10.1016/s0960-8966(97)00114-4. Neuromuscul Disord. 1997. PMID: 9447607

10

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.

Barthélémy C, Ogier de Baulny H, Diaz J, Cheval MA, Frachon P, Romero N, Goutieres F, Fardeau M, Lombès A. Barthélémy C, et al. Ann Neurol. 2001 May;49(5):607-17. Ann Neurol. 2001. PMID: 11357951

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