Romero NB - Search Results

1

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J. Biancalana V, et al. Among authors: romero nb. Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6. Acta Neuropathol. 2017. PMID: 28685322

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

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

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

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

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.

10

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Thémar-Noël C, Penisson I, Mayer M, Tanguy O, Campbell KP, Kaplan JC, Tomé FM, Fardeau M. Eymard B, et al. Among authors: romero nb. Neurology. 1997 May;48(5):1227-34. doi: 10.1212/wnl.48.5.1227. Neurology. 1997. PMID: 9153448

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