Search Results - "Brustenghi, P"

Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7 by Bonifati, V, Dekker, M C J, Vanacore, N, Fabbrini, G, Squitieri, F, Marconi, R, Antonini, A, Brustenghi, P, Dalla Libera, A, De Mari, M, Stocchi, F, Montagna, P, Gallai, V, Rizzu, P, van Swieten, J C, Oostra, B, van Duijn, C M, Meco, G, Heutink, P

“…Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to…”
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Cerebrotendinous xanthomatosis. Case report by Bacchi, O, Stefanucci, S, Brustenghi, P L, Pagliacci, A, Bellanti, G M

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Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset by Bonifati, Vincenzo, Breedveld, Guido J., Squitieri, Ferdinando, Vanacore, Nicola, Brustenghi, Pierluigi, Harhangi, Biswadjiet S., Montagna, Pasquale, Cannella, Milena, Fabbrini, Giovanni, Rizzu, Patrizia, van Duijn, Cornelia M., Oostra, Ben A., Meco, Giuseppe, Heutink, Peter

“…Two new loci, PARK6 and PARK7, for autosomal recessive early‐onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees…”
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