Search Results - "Peverelli, L."

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy by Galimberti, V., Tironi, R., Lerario, A., Scali, M., Del Bo, R., Rodolico, C., Brizzi, T., Gibertini, S., Maggi, L., Mora, M., Toscano, A., Comi, G. P., Sciacco, M., Moggio, M., Peverelli, L.

“…Background and purpose The aim was to assess the value of insoluble PABPN1 muscle fibre nuclei accumulation in the diagnosis of atypical cases of…”
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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 by Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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Cerebellar ataxia and severe muscle CoQ 10 deficiency in a patient with a novel mutation in ADCK3 by Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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Cerebellar ataxia and severe muscle CoQ sub(10) deficiency in a patient with a novel mutation in ADCK3 by Barca, E, Musumeci, O, Montagnese, F, Marino, S, Granata, F, Nunnari, D, Peverelli, L, DiMauro, S, Quinzii, C M, Toscano, A

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
Get full text