Search Results - "Nóbrega, Paulo R."

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil by Fussiger, Helena, Lima, Pedro Lucas G. S. B., Souza, Paulo V. S., Freua, Fernando, Husny, Antonette S. E., Leão, Emília K. E. A., Braga‐Neto, Pedro, Kok, Fernando, Lynch, David S., Saute, Jonas A. M., Nóbrega, Paulo R.

“…There are few cerebrotendineous xanthomatosis (CTX) case series and observational studies including a significant number of Latin American patients. We…”
Get full text

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG by Walker, Christopher P, Pessoa, Andre L S, Figueiredo, Thalita, Rafferty, Megan, Melo, Uirá S, Nóbrega, Paulo R, Murphy, Nicholas, Kok, Fernando, Zatz, Mayana, Santos, Silvana, Cho, Raymond Y

“…Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous…”
Get full text

A Complex Hyperkinetic Movement Disorder Responsive to Immunotherapy in a Patient with Neuromyelitis Optica by Aguiar, Rafaela F., Nóbrega, Paulo R., Veras, Samuel Ranieri O., Maia, Fernanda M., Sobreira‐Neto, Manoel A., Braga‐Neto, Pedro

“…View Supplementary Video…”
Get full text

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report by G S B Lima, Pedro Lucas, Nobrega, Paulo R, Freua, Fernando, Braga-Neto, Pedro, Paiva, Anderson R B, Guimarães, Thiago Gonçalves, Kok, Fernando

“…Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. We…”
Get full text

Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia by Nóbrega, Paulo R, R. B. de Paiva, Anderson, Souza, Katiane S, de Souza, Jorge Luiz B, G. S. B. Lima, Pedro Lucas, da Silva, Delson José, Pitombeira, Milena Sales, Borges, Viviennee K, Dias, Daniel A, Bispo, Luciana M, Santos, Carolina F, Freua, Fernando, Silva, Paulo Diego S, Alves, Isabela S, Portella, Leonardo B, Cunha, Paulina R, Salomao, Rubens Paulo A, Pedroso, José Luiz, Miyajima, Veridiana P, Miyajima, Fábio, Cali, Elisa, Wade, Charles, Sudarsanam, Annapurna, O’Driscoll, Mary, Hayton, Tom, Barsottini, Orlando G P, Klebe, Stephan, Kok, Fernando, Lucato, Leandro Tavares, Houlden, Henry, Depienne, Christel, Lynch, David S, Braga-Neto, Pedro

“…Abstract Mutations in CLCN2 are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have…”
Get full text

Loss-of-function mutation in inositol monophosphatase 1 by Walker, Christopher P, Pessoa, Andre L. S, Figueiredo, Thalita, Rafferty, Megan, Melo, Uirá S, Nóbrega, Paulo R, Murphy, Nicholas, Kok, Fernando, Zatz, Mayana, Santos, Silvana, Cho, Raymond Y

“…Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous…”
Get full text

A Complex Hyperkinetic Movement Disorder Responsive to Immunotherapy in a Patient with Neuromyelitis Optica by Aguiar, Rafaela F, Nóbrega, Paulo R, Veras, Samuel Ranieri O, Maia, Fernanda M, Sobreira-Neto, Manoel A, Braga-Neto, Pedro

Get full text