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B Romero

Showing results (321-330 of 337) with videos related to

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Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Journal of Neurology|September 24, 2021
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohortSusana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, et al.
Acta Neuropathologica Communications|September 18, 2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseValérie Biancalana, John Rendu, Annabelle Chaussenot, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Medicine|May 7, 2014
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statinYves Allenbach, Laurent Drouot, Aude Rigolet, et al.
Acta Neuropathologica|July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic cluesValérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.
Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.
Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.
Pageof 34

Showing results (321-330 of 337) with videos related to

Sort By:
Pageof 34
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Journal of Neurology|September 24, 2021
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohortSusana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, et al.
Acta Neuropathologica Communications|September 18, 2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseValérie Biancalana, John Rendu, Annabelle Chaussenot, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Medicine|May 7, 2014
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statinYves Allenbach, Laurent Drouot, Aude Rigolet, et al.
Acta Neuropathologica|July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic cluesValérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.
Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.
Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.
Pageof 34