N B Romero - JoVE Visualize

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Cell|August 26, 1994

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyS L Roberds, F Leturcq, V Allamand, et al.

Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1994

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiencyN B Romero, F M Tomé, F Leturcq, et al.

Clinical Genetics|November 25, 2016

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosisM Garibaldi, F Fattori, B Riva, et al.

Clinical Genetics|November 6, 2007

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decayM Krahn, C Pécheux, F Chapon, et al.

Pediatric Transplantation|March 19, 1999

Bioavailability of two oral formulations of cyclosporin A in uremic children before renal transplantationM Medeiros, A C Gómez, J P Urizar, et al.

Neurology|July 20, 2007

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutationA Yanagisawa, C Bouchet, P Y K Van den Bergh, et al.

Neurology|December 28, 2006

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 geneD Fischer, M Herasse, A Ferreiro, et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locusN B Romero, M Herasse, N Monnier, et al.

Neuropathology and Applied Neurobiology|November 11, 2010

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganizationJ A Bevilacqua, N Monnier, M Bitoun, et al.

American Journal of Human Genetics|October 10, 2001

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.

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Showing results (21-30 of 37) with videos related to

Sort By:

Pageof 4

Cell|August 26, 1994

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyS L Roberds, F Leturcq, V Allamand, et al.

Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1994

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiencyN B Romero, F M Tomé, F Leturcq, et al.

Clinical Genetics|November 25, 2016

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosisM Garibaldi, F Fattori, B Riva, et al.

Clinical Genetics|November 6, 2007

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decayM Krahn, C Pécheux, F Chapon, et al.

Pediatric Transplantation|March 19, 1999

Bioavailability of two oral formulations of cyclosporin A in uremic children before renal transplantationM Medeiros, A C Gómez, J P Urizar, et al.

Neurology|July 20, 2007

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutationA Yanagisawa, C Bouchet, P Y K Van den Bergh, et al.

Neurology|December 28, 2006

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 geneD Fischer, M Herasse, A Ferreiro, et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locusN B Romero, M Herasse, N Monnier, et al.

Neuropathology and Applied Neurobiology|November 11, 2010

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganizationJ A Bevilacqua, N Monnier, M Bitoun, et al.

American Journal of Human Genetics|October 10, 2001

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.

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