Romero NB - Search Results

1

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation.

Romero NB, Bevilacqua JA, Oldfors A, Fardeau M. Romero NB, et al. Neuromuscul Disord. 2011 Feb;21(2):148; author reply 148-9. doi: 10.1016/j.nmd.2010.11.009. Neuromuscul Disord. 2011. PMID: 21247764 No abstract available.

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

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

4

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.

5

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.

6

From adhalinopathies to alpha-sarcoglycanopathies: an overview.

Jeanpierre M, Carrié A, Piccolo F, Leturcq F, Azibi K, De Toma C, Beldjord C, Merlini L, Voit T, Romero N, Sunada Y, Tomé FM, Fardeau M, Campbell KP, Kaplan JC. Jeanpierre M, et al. Neuromuscul Disord. 1996 Dec;6(6):463-5. doi: 10.1016/s0960-8966(96)00394-x. Neuromuscul Disord. 1996. PMID: 9027856 Review. No abstract available.

7

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. Monnier N, et al. Among authors: romero nb. Hum Mol Genet. 2000 Nov 1;9(18):2599-608. doi: 10.1093/hmg/9.18.2599. Hum Mol Genet. 2000. PMID: 11063719

8

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J. Monnier N, et al. Among authors: romero nb. Hum Mol Genet. 2001 Oct 15;10(22):2581-92. doi: 10.1093/hmg/10.22.2581. Hum Mol Genet. 2001. PMID: 11709545

9

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

Quijano-Roy S, Galan L, Ferreiro A, Cheliout-Héraut F, Gray F, Fardeau M, Barois A, Guicheney P, Romero NB, Estournet B. Quijano-Roy S, et al. Among authors: romero nb. Neuromuscul Disord. 2002 Jun;12(5):466-75. doi: 10.1016/s0960-8966(01)00331-5. Neuromuscul Disord. 2002. PMID: 12031620

10

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: romero nb. Ann Neurol. 2002 Jun;51(6):750-9. doi: 10.1002/ana.10231. Ann Neurol. 2002. PMID: 12112081

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