Browsing by Author Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]

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Showing results 1 to 8 of 8
Issue DateTitleAuthor(s)
2016Clinical and genetic basis of congenital myasthenic syndromesSgobbi de Souza, Paulo Victor [UNIFESP]; de Rezende Batistella, Gabriel Novaes [UNIFESP]; Lino, Valeria Cavalcante [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Annes, Marcelo [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
2017Duchenne muscular dystrophy: classical and new therapeutic purposes and future perspectivesSgobbi de Souza, Paulo Victor [UNIFESP]; Monteiro Naylor, Fernando George [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
2017New genetic causes for complex hereditary spastic paraplegiaSgobbi de Souza, Paulo Victor [UNIFESP]; Bortholin, Thiago [UNIFESP]; Dias, Renan Braido [UNIFESP]; Troccoli Chieia, Marco Antonio [UNIFESP]; Burlin, Stenio [UNIFESP]; Monteiro Naylor, Fernando George [UNIFESP]; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
2016One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementiaAbrahao, Agessandro [UNIFESP]; Neto, Osorio Abath; Kok, Fernando; Zanoteli, Edmar; Santos, Bibiana; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Povoas Barsottini, Orlando Graziani [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]
1-Nov-2013Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Sgobbi de Souza, Paulo Victor [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Nov-2014Urbach-Wiethe disease presenting with partial seizures, skin lesions and typical neuroimaging featuresVieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Sgobbi de Souza, Paulo Victor [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Barsottini, Orlando Graziani Povoas [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Sep-2013Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spotsVieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Sgobbi de Souza, Paulo Victor [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Apr-2015Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth diseaseVieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Sgobbi de Souza, Paulo Victor [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)