Authors:
Regis, S
Filocamo, M
Mazzotti, R
Cusano, R
Corsolini, F
Bonuccelli, G
Stroppiano, M
Gatti, R
Citation: S. Regis et al., Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR, PRENAT DIAG, 21(8), 2001, pp. 668-671
Authors:
Stroppiano, M
Bonuccelli, G
Corsolini, F
Filocamo, M
Citation: M. Stroppiano et al., Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT -> GC) in combination with rare IVS10 (+1GT -> CT), AM J MED G, 101(1), 2001, pp. 55-58
Authors:
Filocamo, M
Bonuccelli, G
Mazzotti, R
Corsolini, F
Stroppiano, M
Regis, S
Gatti, R
Citation: M. Filocamo et al., Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making, BL CELL M D, 26(6), 2000, pp. 611-612
Authors:
Filocamo, M
Bonuccelli, G
Mazzotti, R
Giona, F
Gatti, R
Citation: M. Filocamo et al., Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: Implications for prognosis and genetic counseling, BL CELL M D, 26(4), 2000, pp. 307-311
Authors:
Romano, M
Danek, GM
Baralle, FE
Mazzotti, R
Filocamo, M
Citation: M. Romano et al., Functional characterization of the novel mutation IVS 8 (-11delC) (-14T > A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I, BL CELL M D, 26(3), 2000, pp. 171-176
Authors:
Tessitore, A
Villani, GRD
Di Domenico, C
Filocamo, M
Gatti, R
Di Natale, P
Citation: A. Tessitore et al., Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients, HUM GENET, 107(6), 2000, pp. 568-576
Authors:
Selleri, S
Torchiana, E
Pareyson, D
Lulli, L
Bertagnolio, B
Savoiardo, M
Farina, L
Carrara, F
Filocamo, M
Gatti, R
Sghirlanzoni, A
Uziel, G
Finocchiaro, G
Citation: S. Selleri et al., Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease, J NEUROL, 247(11), 2000, pp. 875-877
Authors:
Dagnino, F
Stroppiano, M
Regis, S
Bonuccelli, G
Filocamo, M
Citation: F. Dagnino et al., Evidence for a founder effect in Sicilian patients with glycogen storage disease type II, HUMAN HERED, 50(6), 2000, pp. 331-333
Authors:
Regis, S
Filocamo, M
Corsolini, F
Caroli, F
Keulemans, JLM
van Diggelen, OP
Gatti, R
Citation: S. Regis et al., An Asn -> Lys substitution in saposin B involving a conserved amino acidicresidue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity, EUR J HUM G, 7(2), 1999, pp. 125-130
Authors:
Di Natale, P
Villani, GRD
Esposito, S
Balzano, V
Filocamo, M
Gatti, R
Citation: P. Di Natale et al., Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele, PRENAT DIAG, 19(10), 1999, pp. 993-994