1. A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy. Issue 11 (16th October 2007) Authors: Muglia, M; Vazza, G; Patitucci, A; Milani, M; Pareyson, D; Taroni, F; Quattrone, A; Mostacciuolo, M L Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 78:Issue 11(2007) Page Start: 1286 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. Issue 12 (December 1997) Authors: Fanin, M; Duggan, D J; Mostacciuolo, M L; Martinello, F; Freda, M P; Sorarù, G; Trevisan, C P; Hoffman, E P; Angelini, C Journal: Journal of medical genetics Issue: Volume 34:Issue 12(1997) Page Start: 973 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. Issue 6 (1st June 2002) Authors: Zortea, M; Vettori, A; Trevisan, C P; Bellini, S; Vazza, G; Armani, M; Simonati, A; Mostacciuolo, M L Journal: Journal of medical genetics Issue: Volume 39:Issue 6(2002) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. Issue 11 (November 1994) Authors: Schiavon, F; Mostacciuolo, M L; Saad, F; Merlini, L; Siciliano, G; Angelini, C; Danieli, G A Journal: Journal of medical genetics Issue: Volume 31:Issue 11(1994) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. PMP22 related congenital hypomyelination neuropathy. Issue 1 (1st January 2001) Authors: Fabrizi, G M; Simonati, A; Taioli, F; Cavallaro, T; Ferrarini, M; Rigatelli, F; Pini, A; Mostacciuolo, M L; Rizzuto, N Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 70:Issue 1(2001) Page Start: 123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. Issue 5 (5th February 2009) Authors: Crimella, C; Arnoldi, A; Crippa, F; Mostacciuolo, M L; Boaretto, F; Sironi, M; D'Angelo, M Grazia; Manzoni, S; Piccinini, L; Turconi, A C; Toscano, A; Musumeci, O; Benedetti, S; Fazio, R; Bresolin, N; Daga, A; Martinuzzi, A; Bassi, M T Journal: Journal of medical genetics Issue: Volume 46:Issue 5(2009) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. Issue 2 (February 1992) Authors: Vitiello, L; Mostacciuolo, M L; Oliviero, S; Schiavon, F; Nicoletti, L; Angelini, C; Danieli, G A Journal: Journal of medical genetics Issue: Volume 29:Issue 2(1992) Page Start: 127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. Issue 3 (March 1994) Authors: Cochrane, S; Bergoffen, J; Fairweather, N D; Müller, E; Mostacciuolo, M L; Monaco, A P; Fischbeck, K H; Haites, N E Journal: Journal of medical genetics Issue: Volume 31:Issue 3(1994) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗