Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid

av Zanoteli Edmar, Resende Maria Bernadete D, Plaggert Paulo G, Darbar Illora A, Reed Umbertina C
Publicerad 2011-03-01

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid

av Darbar, Illora A, Plaggert, Paulo G, Resende, Maria Bernadete D, Zanoteli, Edmar, Reed, Umbertina C
Publicerad 2011

Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

av MARIE SUELY K.NAGAHASHI, CARVALHO ALZIRA A.S., FONSECA LUIZ FERNANDO, CARVALHO MARY S., REED UMBERTINA C., SCAFF MILBERTO
Publicerad 1999-01-01

Lung function monitoring in patients with duchenne muscular dystrophy on steroid therapy

av Machado Darlene L, Silva Elaine C, Resende Maria B D, Carvalho Celso R F, Zanoteli Edmar, Reed Umbertina C
Publicerad 2012-08-01

Lung function monitoring in patients with duchenne muscular dystrophy on steroid therapy

av Machado, Darlene L, Silva, Elaine C, Resende, Maria B D, Carvalho, Celso R F, Zanoteli, Edmar, Reed, Umbertina C
Publicerad 2012

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

av Galleni Leão, Leonardo, Santos Souza, Lucas, Nogueira, Letícia, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, Reed, Umbertina C, Oliveira, Acary S.B., Cuperman, Thais, Cotta, Ana, FPaim, Julia, Zatz, Mayana, Vainzof, Mariz
I publikationen Acta Myol (2020)

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

av Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan
I publikationen Am J Hum Genet (2017)

Clinical and molecular findings in a cohort of ANO5‐related myopathy

av Silva, André M. S., Coimbra-Neto, Antônio R., Souza, Paulo Victor S., Winckler, Pablo B., Gonçalves, Marcus V. M., Cavalcanti, Eduardo B. U., Carvalho, Alzira A. D. S., Sobreira, Cláudia F. D. R., Camelo, Clara G., Mendonça, Rodrigo D. H., Estephan, Eduardo D. P., Reed, Umbertina C., Machado-Costa, Marcela C., Dourado-Junior, Mario E. T., Pereira, Vanessa C., Cruzeiro, Marcelo M., Helito, Paulo V. P., Aivazoglou, Laís U., Camargo, Leonardo V. D., Gomes, Hudson H., Camargo, Amaro J. S. D., Pinto, Wladimir B. V. D. R., Badia, Bruno M. L., Libardi, Luiz H., Yanagiura, Mario T., Oliveira, Acary S. B., Nucci, Anamarli, Saute, Jonas A. M., França-Junior, Marcondes C., Zanoteli, Edmar
I publikationen Ann Clin Transl Neurol (2019)