Romero NB - Search Results

1

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Böhm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Pénisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J. Böhm J, et al. Among authors: romero nb. J Med Genet. 2014 Dec;51(12):824-33. doi: 10.1136/jmedgenet-2014-102623. Epub 2014 Oct 17. J Med Genet. 2014. PMID: 25326555

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

[Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease].

Eymard B, Penicaud A, Leger JM, Romero N, Marsac C, Fardeau M, Brunet P. Eymard B, et al. Rev Neurol (Paris). 1991;147(6-7):508-12. Rev Neurol (Paris). 1991. PMID: 1660183 French.

4

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

5

[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy].

Marsac C, Degoul F, Bonne G, Romero N, Nelson I, Fardeau M, François D, Ponsot G, Harpey JP, Eymard B, et al. Marsac C, et al. Rev Neurol (Paris). 1991;147(6-7):462-6. Rev Neurol (Paris). 1991. PMID: 1962051 French.

6

Immunohistochemical demonstration of fibre type-specific isozymes of cytochrome c oxidase in human skeletal muscle.

Romero N, Marsac C, Fardeau M, Droste M, Schneyder B, Kadenbach B. Romero N, et al. Histochemistry. 1990;94(2):211-5. doi: 10.1007/BF02440190. Histochemistry. 1990. PMID: 2162812

7

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

8

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.

Nelson I, Degoul F, Obermaier-Kusser B, Romero N, Borrone C, Marsac C, Vayssiere JL, Gerbitz K, Fardeau M, Ponsot G, Lestienne P. Nelson I, et al. Nucleic Acids Res. 1989 Oct 25;17(20):8117-24. doi: 10.1093/nar/17.20.8117. Nucleic Acids Res. 1989. PMID: 2813058 Free PMC article.

9

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

10

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

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