Encontrados 6 documentos, a visualizar página 1 de 1
Median nerve ultrasound: A screening tool in the diagnosis of carpal tunnel syn...
Santiago, T; Rovisco, J; Matos, A; Negrão, L; Pereira da Silva, JA
Nova mutação pontual no gene da proteína da mielina periférica 22 com susceptib...
Negrão, L; Matos, A; Geraldo, A; Tavares, P; Costa, H
Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in ...
Negrão, L; Matos, A; Geraldo, A; Rebelo, OLimb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, ...
Deposition and passage of transthyretin through the blood-nerve barrier in reci...
Sousa, MM; Ferrão, J; Fernandes, R; Guimarães, A; Geraldes, B; Perdigoto, R; Tomé, L; Mota, O; Negrão, L; Furtado, AL; Saraiva, MJFamilial amyloid polyneuropathy (FAP) is characterized by deposition of mutated transthyretin (TTR) in the peripheral nervous system. Prior to amyloid fibrils, nonfibrillar TTR aggregates are deposited inducing oxidative stress with increased nitration (3-NT). As the major source of TTR is the liver, liver transplantation (LT) is used to halt FAP. Given the shortage of liver donors, domino LT (DLT) using FAP li...
Eficácia da plasmoferese e da imunoglobulina humana no síndrme de Guillain-Barré
Negrão, L; Santos, JM; Camões, F; Barbosa, J; Cunha, L
Amiloidose ß2 - microglobulina numa população de insuficientes renais crónicos ...
Grade, MJ; Nabais, MJ; Ramos, F; Negrão, L; Cabrita, A; Ralha, E; Alexandrino, MB; Serra e Silva, P
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