Search Results - "Bittar, Maria Fernanda"

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome by Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes, Vera Lucia, Ribeiro Bittar, Maria Fernanda, Orssaud, Christophe, Héron, Bénédicte, Ayoub, Edward, Berquin, Patrick, Bahi-Buisson, Nadia, Bole, Christine, Masson, Cécile, Munnich, Arnold, Simons, Matias, Delous, Marion, Dollfus, Helene, Boddaert, Nathalie, Lyonnet, Stanislas, Kaplan, Josseline, Calvas, Patrick, Yule, David I., Rozet, Jean-Michel, Fares Taie, Lucas

“…Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia…”
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Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia — The SPASTOX Trial by Diniz de Lima, Fabricio, Faber, Ingrid, Servelhere, Katiane R., Bittar, Maria Fernanda R., Martinez, Alberto R.M., Piovesana, Luiza G., Martins, Melina P., Martins, Carlos Roberto, Benaglia, Tatiana, Sá Carvalho, Benilton, Nucci, Anamarli, França, Marcondes C.

“…Background Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management…”
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O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil by Oliveira Netto, Alice Brinckmann, Brusius Facchin, Ana Carolina, Lemos, Julia, Pasetto, Fernanda Bender, Wiest, Paloma, Coutinho, Vivian, Castro, Simone, Ferreira, Juliana, Silveira, Cynthia, Bittar, Maria Fernanda, Forestiero, Francisco, Wang, Cristina, de Lana, Janaina Martins, Franca, Marcondes Cavalcante, Giugliani, Roberto

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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil by Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Lemos, Júlia F, Pasetto, Fernanda B, Brasil, Carolina S, Trapp, Franciele B, Saute, Jonas Alex Morales, Donis, Karina Carvalho, Becker, Michele Michelin, Wiest, Paloma, Coutinho, Vivian L S, Castro, Simone, Ferreira, Juliana, Silveira, Cynthia, Bittar, Maria Fernanda R, Wang, Cristina, Lana, Janaina M, França Junior, Marcondes Cavalcante, Giugliani, Roberto

“…Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births…”
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