Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

Por Fabrizi, G. M., Cavallaro, T., Morbin, M., Simonati, A., Taioli, F., Rizzuto, N.
Publicado em 1999

Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase.

Por Fabrizi, G M, Rizzuto, R, Nakase, H, Mita, S, Kadenbach, B, Schon, E A
Publicado em 1989

Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase.

Por Fabrizi, G M, Rizzuto, R, Nakase, H, Mita, S, Lomax, M I, Grossman, L I, Schon, E A
Publicado em 1989

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

Por Mita, S, Rizzuto, R, Moraes, C T, Shanske, S, Arnaudo, E, Fabrizi, G M, Koga, Y, DiMauro, S, Schon, E A
Publicado em 1990

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Por Fabrizi, G M, Cardaioli, E, Grieco, G S, Cavallaro, T, Malandrini, A, Manneschi, L, Dotti, M T, Federico, A, Guazzi, G
Publicado em 1996

Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase.

Por Koga, Y, Fabrizi, G M, Mita, S, Arnaudo, E, Lomax, M I, Aqua, M S, Grossman, L I, Schon, E A
Publicado em 1990

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

Por Rubio, J P, Danek, A, Stone, C, Chalmers, R, Wood, N, Verellen, C, Ferrer, X, Malandrini, A, Fabrizi, G M, Manfredi, M, Vance, J, Pericak-Vance, M, Brown, R, Rudolf, G, Picard, F, Alonso, E, Brin, M, Németh, A H, Farrall, M, Monaco, A P
Publicado em 1997

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Por Zimoń, M., Baets, J., Fabrizi, G.M., Jaakkola, E., Kabzińska, D., Pilch, J., Schindler, A.B., Cornblath, D.R., Fischbeck, K.H., Auer-Grumbach, M., Guelly, C., Huber, N., De Vriendt, E., Timmerman, V., Suter, U., Hausmanowa-Petrusewicz, I., Niemann, A., Kochański, A., De Jonghe, P., Jordanova, A.
Publicado em 2011