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Revue Neurologique|September 24, 2016

Nemaline myopathies: State of the artE Malfatti, N B Romero

Neuromuscular Disorders : NMD|January 1, 1992

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndromeA Lombès, C Diaz, N B Romero, et al.

Neuromuscular Disorders : NMD|November 25, 2022

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathiesM Masingue, B Rucheton, C Bris, et al.

Neuromuscular Disorders : NMD|January 1, 1993

Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiencyN B Romero, C Marsac, M Paturneau-Jouas, et al.

Human Molecular Genetics|November 16, 2001

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptorN Monnier, N B Romero, J Lerale, et al.

Neuromuscular Disorders : NMD|September 1, 1993

Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expressionN B Romero, Y Nivoche, J Lunardi, et al.

Neurology|August 25, 2004

Progression despite replacement of a myopathic form of coenzyme Q10 defectK Auré, J F Benoist, H Ogier de Baulny, et al.

Human Molecular Genetics|November 7, 2000

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptorN Monnier, N B Romero, J Lerale, et al.

Journal of the Neurological Sciences|November 1, 1989

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscleN B Romero, P Lestienne, C Marsac, et al.

Histochemistry and Cell Biology|January 1, 1995

Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in childrenS Possekel, A Lombes, H Ogier de Baulny, et al.

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Showing results (1-10 of 37) with videos related to

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Revue Neurologique|September 24, 2016

Nemaline myopathies: State of the artE Malfatti, N B Romero

Neuromuscular Disorders : NMD|January 1, 1992

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndromeA Lombès, C Diaz, N B Romero, et al.

Neuromuscular Disorders : NMD|November 25, 2022

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathiesM Masingue, B Rucheton, C Bris, et al.

Neuromuscular Disorders : NMD|January 1, 1993

Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiencyN B Romero, C Marsac, M Paturneau-Jouas, et al.

Human Molecular Genetics|November 16, 2001

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptorN Monnier, N B Romero, J Lerale, et al.

Neuromuscular Disorders : NMD|September 1, 1993

Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expressionN B Romero, Y Nivoche, J Lunardi, et al.

Neurology|August 25, 2004

Progression despite replacement of a myopathic form of coenzyme Q10 defectK Auré, J F Benoist, H Ogier de Baulny, et al.

Human Molecular Genetics|November 7, 2000

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptorN Monnier, N B Romero, J Lerale, et al.

Journal of the Neurological Sciences|November 1, 1989

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscleN B Romero, P Lestienne, C Marsac, et al.

Histochemistry and Cell Biology|January 1, 1995

Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in childrenS Possekel, A Lombes, H Ogier de Baulny, et al.

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