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Osorio Abath Neto

Showing results (1-10 of 11) with videos related to

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Plos One|October 30, 2014
Integrative data mining highlights candidate genes for monogenic myopathiesOsorio Abath Neto, Olivier Tassy, Valérie Biancalana, et al.
Neuromuscular Disorders : NMD|January 24, 2012
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathyJuliana Gurgel-Giannetti, Edmar Zanoteli, Eralda Luiza de Castro Concentino, et al.
Genetics and Molecular Biology|August 15, 2015
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyOsorio Abath Neto, Cristiane de Araújo Martins, Mary Carvalho, et al.
European Journal of Medical Genetics|September 26, 2015
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathyEdoardo Malfatti, Soledad Monges, Vilma-Lotta Lehtokari, et al.
Pediatric Neurology|March 21, 2016
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic LevelsOsorio Abath Neto, Marina Rodrigues E Silva, Cristiane de Araújo Martins, et al.
Acta Neuropathologica Communications|July 9, 2022
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesClémence Labasse, Guy Brochier, Ana-Lia Taratuto, 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.
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.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, 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.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Plos One|October 30, 2014
Integrative data mining highlights candidate genes for monogenic myopathiesOsorio Abath Neto, Olivier Tassy, Valérie Biancalana, et al.
Neuromuscular Disorders : NMD|January 24, 2012
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathyJuliana Gurgel-Giannetti, Edmar Zanoteli, Eralda Luiza de Castro Concentino, et al.
Genetics and Molecular Biology|August 15, 2015
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyOsorio Abath Neto, Cristiane de Araújo Martins, Mary Carvalho, et al.
European Journal of Medical Genetics|September 26, 2015
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathyEdoardo Malfatti, Soledad Monges, Vilma-Lotta Lehtokari, et al.
Pediatric Neurology|March 21, 2016
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic LevelsOsorio Abath Neto, Marina Rodrigues E Silva, Cristiane de Araújo Martins, et al.
Acta Neuropathologica Communications|July 9, 2022
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesClémence Labasse, Guy Brochier, Ana-Lia Taratuto, 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.
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.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, 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.
Pageof 2