A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28

Por Vazza, G., Zortea, M., Boaretto, F., Micaglio, G. F., Sartori, V., Mostacciuolo, M. L.
Publicado em 2000

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

Por Vitiello, L, Mostacciuolo, M L, Oliviero, S, Schiavon, F, Nicoletti, L, Angelini, C, Danieli, G A
Publicado em 1992

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

Por Schiavon, F, Mostacciuolo, M L, Saad, F, Merlini, L, Siciliano, G, Angelini, C, Danieli, G A
Publicado em 1994

A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy

Por Muglia, M, Vazza, G, Patitucci, A, Milani, M, Pareyson, D, Taroni, F, Quattrone, A, Mostacciuolo, M L
Publicado em 2007

A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3

Por Soragna, D., Vettori, A., Carraro, G., Marchioni, E., Vazza, G., Bellini, S., Tupler, R., Savoldi, F., Mostacciuolo, M. L.
Publicado em 2003

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Por Cochrane, S, Bergoffen, J, Fairweather, N D, Müller, E, Mostacciuolo, M L, Monaco, A P, Fischbeck, K H, Haites, N E
Publicado em 1994

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

Por Fanin, M, Duggan, D J, Mostacciuolo, M L, Martinello, F, Freda, M P, Sorarù, G, Trevisan, C P, Hoffman, E P, Angelini, C
Publicado em 1997

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites

Por Manno, N., Sherratt, S., Boaretto, F., Coico, F. Mejìa, Camus, C. Espinoza, Campos, C. Jara, Musumeci, S., Battisti, A., Quinnell, R.J., León, J. Mostacero, Vazza, G., Mostacciuolo, M.L., Paoletti, M.G., Falcone, F.H.
Publicado em 2014