Romero NB - Search Results

1

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

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

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.

4

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

Romero NB, Tomé FM, Leturcq F, el Kerch FE, Azibi K, Bachner L, Anderson RD, Roberds SL, Campbell KP, Fardeau M, et al. Romero NB, et al. C R Acad Sci III. 1994 Jan;317(1):70-6. C R Acad Sci III. 1994. PMID: 7987694

5

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.

Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB, et al. Roberds SL, et al. Among authors: romero nb. Cell. 1994 Aug 26;78(4):625-33. doi: 10.1016/0092-8674(94)90527-4. Cell. 1994. PMID: 8069911

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

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

Matsumura K, Tomé FM, Ionasescu V, Ervasti JM, Anderson RD, Romero NB, Simon D, Récan D, Kaplan JC, Fardeau M, et al. Matsumura K, et al. Among authors: romero nb. J Clin Invest. 1993 Aug;92(2):866-71. doi: 10.1172/JCI116661. J Clin Invest. 1993. PMID: 8349821 Free PMC article.

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

9

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A.

Restagno G, Romero N, Richard I, Beckmann JS, Pagliano M, Ferrone M, Carbonara A, Merlini L. Restagno G, et al. Neuromuscul Disord. 1996 May;6(3):173-6. doi: 10.1016/0960-8966(96)00017-x. Neuromuscul Disord. 1996. PMID: 8784805

10

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

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