Search Results - "Pessoa, A.L.S."

249P Clinical characteristics of the spinal muscular atrophy patients identified in the Brazilian public health system by Batista, E.C., Zanoteli, E., Ortega, A.B., Junior, M.C.F., Saute, J.A.M., Oliveira, A.S.B., Giannetti, J.G., Pessoa, A.L.S., Prufer, A., Boy, R., Junior, F.G.B., de Albuquerque, C.S.N., Moia, D.D.F., Monfardini, F., Santos, G.P., Soares, R.V.P., Silva, G.S., Rizzo, L.V., Berwanger, O., Fonseca, H.A.R.

“…Spinal muscular atrophy (SMA) is a rare disease characterized by progressive loss of motor neurons. The most common form of SMA (5q-SMA), classified into…”
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A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability by Figueiredo, T, Melo, U S, Pessoa, A L S, Nobrega, P R, Kitajima, J P, Rusch, H, Vaz, F, Lucato, L T, Zatz, M, Kok, F, Santos, S

“…The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little is known about the role of autosomal recessive traits. In a…”
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