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Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sampleMOSTACCIUOLO, M. L; PASTORELLO, E; VAZZA, G et al.Clinical genetics. 2009, Vol 75, Num 6, pp 550-555, issn 0009-9163, 6 p.Article

Epidemiology of myotonic dystrophy in Italy: Re-apprisal after genetic diagnosisSICILIANO, G; MANCA, M. L; GENNARELLI, M et al.Clinical genetics. 2001, Vol 59, Num 5, pp 344-349, issn 0009-9163Article

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophyMELACINI, P; FANIN, M; ANGELINI, C et al.Circulation (New York, N.Y.). 1996, Vol 94, Num 12, pp 3168-3175, issn 0009-7322Article

X linked Charcot-Marie-Tooth disease (CMTX1) : a study of 15 families with 12 highly informative polymorphismsCOCHRANE, S; BERGOFFEN, J; FAIRWEATHER, N. D et al.Journal of medical genetics. 1994, Vol 31, Num 3, pp 193-196, issn 0022-2593Article

X-linked Charcot-Marie-Tooth disease. A linkate study in a large family by using 12 probes of the pericentromeric regionMOSTACCIUOLO, M. L; MÜLLER, E; FARDIN, P et al.Human genetics. 1991, Vol 87, Num 1, pp 23-27, issn 0340-6717Article

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasitesMANNO, N; SHERRATT, S; VAZZA, G et al.Carbohydrate polymers. 2014, Vol 113, pp 607-614, issn 0144-8617, 8 p.Article

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28VAZZA, G; ZORTEA, M; BOARETTO, F et al.American journal of human genetics. 2000, Vol 67, Num 2, pp 504-509, issn 0002-9297Article

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)FAIRWEATHER, N; BELL, C; COCHRANE, S et al.Human molecular genetics (Print). 1994, Vol 3, Num 1, pp 29-34, issn 0964-6906Article

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletionsSAAD, F. A; VITIELLO, L; MERLINI, L et al.Human molecular genetics (Print). 1992, Vol 1, Num 5, pp 345-346, issn 0964-6906Article

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patientsVITIELLO, L; MOSTACCIUOLO, M. L; OLIVIERO, S et al.Journal of medical genetics. 1992, Vol 29, Num 2, pp 127-130, issn 0022-2593Article

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosumCRIMELLA, C; ARNOLDI, A; TOSCANO, A et al.Journal of medical genetics. 2009, Vol 46, Num 5, pp 345-351, issn 0022-2593, 7 p.Article

Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytomaOPOCHER, G; SCHIAVI, F; MANTERO, F et al.Clinical endocrinology (Oxford. Print). 2003, Vol 59, Num 6, pp 707-715, issn 0300-0664, 9 p.Article

PMP22 related congenital hypomyelination neuropathyFABRIZI, G. M; SIMONATI, A; TAIOLI, F et al.Journal of neurology, neurosurgery and psychiatry. 2001, Vol 70, Num 1, pp 123-126, issn 0022-3050Article

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutationsFANIN, M; DUGGAN, D. J; MOSTACCIUOLO, M. L et al.Journal of medical genetics. 1997, Vol 34, Num 12, pp 973-977, issn 0022-2593Article

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east ItalyMOSTACCIUOLO, M. L; MIORIN, M; MARTINELLO, F et al.Human genetics. 1996, Vol 97, Num 3, pp 277-279, issn 0340-6717Article

A study on duplications of the dystrophin gene : evidence of a geographical difference in the distribution of breakpoints by intronGALVAGNI, F; SAAD, F. A; DANIELI, G. A et al.Human genetics. 1994, Vol 94, Num 1, pp 83-87, issn 0340-6717Article

Population data on benign and severe forms of X-linked muscular distrophyMOSTACCIUOLO, M. L; LOMBARDI, A; CAMBISSA, V et al.Human genetics. 1987, Vol 75, Num 3, pp 217-220, issn 0340-6717Article