Search Results - "Souza, Paulo V. S."

Clinical and molecular characterization of limb‐girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients by Gaviraghi, Tobias, Cavalcanti, Eduardo B. U., Lorenzoni, Paulo José, Cotta, Ana, Souza, Paulo V. S., Oliveira, André D., Moraes, Maria T., Marques, Marcos V. O., Donis, Karina C., Winckler, Pablo B., Costa e Silva, Cynthia, Pinto, Wladimir B. V. R., Kay, Cláudia S. K., Ducci, Renata D., Rodrigues, Paula R. V. P., Fustes, Otto J. H., Silva, André M. S., Zanoteli, Edmar, França, Marcondes C., Sobreira, Cláudia F. R., Oliveira, Acary S. B., Carvalho, Elmano H. T., Scola, Rosana H., Carvalho, Alzira A. S., Saute, Jonas Alex Morales

“…Limb‐girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra‐rare condition initially identified within the Brazilian population. We aimed to expand…”
Get full text

Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes by Camelo-Filho, Antonio E., Silva, André M. S., Estephan, Eduardo P., Zambon, Antônio A., Mendonça, Rodrigo H., Souza, Paulo V. S., Pinto, Wladimir B. V. R., Oliveira, Acary S. B., Dangoni-Filho, Iron, Pouza, Ana F. P., Valerio, Berenice C. O., Zanoteli, Edmar

“…Myasthenia gravis (MG), an autoimmune neuromuscular disorder, may be a risk factor for severe COVID-19. We conducted an observational retrospective study with…”
Get full text

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

Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology by de Boer, Eva M.J., Barritt, Andrew W., Elamin, Marwa, Anderson, Stuart J., Broad, Rebecca, Nisbet, Angus, Goedee, H. Stephan, Vázquez Costa, Juan F., Prudlo, Johannes, Vedeler, Christian A., Fernandez, Julio Pardo, Panades, Mónica Povedano, Albertí Aguilo, Maria A., Bella, Eleonora Dalla, Lauria, Giuseppe, Pinto, Wladimir B.V.R., de Souza, Paulo V.S., Oliveira, Acary S.B., Toro, Camilo, van Iersel, Joost, Parson, Malu, Harschnitz, Oliver, van den Berg, Leonard H., Veldink, Jan H., Al-Chalabi, Ammar, Leigh, Peter N., van Es, Michael A.

“…To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). We identified 29 new cases and 71 literature cases, resulting in…”
Get full text

A reversible cause of longitudinally extensive transverse myelopathy: question by Pinto, Wladimir B.V.R, Souza, Paulo V.S, Oliveira, Acary S.B

Get full text

A reversible cause of longitudinally extensive transverse myelopathy answer by Pinto, Wladimir B.V.R, Souza, Paulo V.S, Oliveira, Acary S.B

Get full text