1 - 25 of 49 results for author:"Filocamo M." in Literature citations
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| Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Fasano T., Pisciotta L., Bocchi L., Guardamagna O., Assandro P., Rabacchi C., Zanoni P., Filocamo M., Bertolini S., Calandra S. Mol. Genet. Metab. 105:450-456(2012) · Mapped (7) |
| Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Grossi S., Regis S., Biancheri R., Mort M., Lualdi S., Bertini E., Uziel G., Boespflug-Tanguy O., Simonati A., Corsolini F. et al. Orphanet J Rare Dis 6:40-40(2011) · Mapped (13) |
| IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles. Bertola F., Filocamo M., Casati G., Mort M., Rosano C., Tylki-Szymanska A., Tuysuz B., Gabrielli O., Grossi S., Scarpa M. et al. Hum. Mutat. 32:E2189-E2210(2011) · UniProtKB (1) · Mapped (6) |
| Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Tappino B., Biancheri R., Mort M., Regis S., Corsolini F., Rossi A., Stroppiano M., Lualdi S., Fiumara A., Bembi B. et al. Hum. Mutat. 31:E1894-E1914(2010) · UniProtKB (1) |
| Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Coutinho M.F., Encarnacao M., Gomes R., da Silva Santos L., Martins S., Sirois-Gagnon D., Bargal R., Filocamo M., Raas-Rothschild A., Tappino B. et al. Clin. Genet. 80:273-280(2011) · Mapped (5) |
| Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Valstar M.J., Bertoli-Avella A.M., Wessels M.W., Ruijter G.J.G., de Graaf B., Olmer R., Elfferich P., Neijs S., Kariminejad R., Suheyl Ezgue F. et al. Hum. Mutat. 31:E1348-E1360(2010) · UniProtKB (1) · Mapped (7) |
| Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome. Lualdi S., Tappino B., Di Duca M., Dardis A., Anderson C.J., Biassoni R., Thompson P.W., Corsolini F., Di Rocco M., Bembi B. et al. Hum. Mutat. 31:E1261-85(2010) · Mapped (6) |
| Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. Tappino B., Chuzhanova N.A., Regis S., Dardis A., Corsolini F., Stroppiano M., Tonoli E., Beccari T., Rosano C., Mucha J. et al. |
| Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. Caciotti A., Di Rocco M., Filocamo M., Grossi S., Traverso F., d'Azzo A., Cavicchi C., Messeri A., Guerrini R., Zammarchi E. et al. J. Neurol. 256:1911-1915(2009) · Mapped (8) |
| Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. Dardis A., Filocamo M., Grossi S., Ciana G., Franceschetti S., Dominissini S., Rubboli G., Di Rocco M., Bembi B. Mol. Genet. Metab. 97:309-311(2009) · UniProtKB (1) |
| PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients. Regis S., Grossi S., Corsolini F., Biancheri R., Filocamo M. Biochim. Biophys. Acta 1792:548-554(2009) · Mapped (13) |
| Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Persichetti E., Chuzhanova N.A., Dardis A., Tappino B., Pohl S., Thomas N.S., Rosano C., Balducci C., Paciotti S., Dominissini S. et al. Hum. Mutat. 30:978-984(2009) · Mapped (3) |
| Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Fancello T., Dardis A., Rosano C., Tarugi P., Tappino B., Zampieri S., Pinotti E., Corsolini F., Fecarotta S., D'Amico A. et al. Neurogenetics 10:229-239(2009) · Mapped (9) |
| Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Aiello C., Terracciano A., Simonati A., Discepoli G., Cannelli N., Claps D., Crow Y.J., Bianchi M., Kitzmuller C., Longo D. et al. |
| Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Zampieri S., Filocamo M., Buratti E., Stroppiano M., Vlahovicek K., Rosso N., Bignulin E., Regis S., Carnevale F., Bembi B. et al. Neurogenetics 10:49-58(2009) · Mapped (2) |
| Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Grossi S., Regis S., Rosano C., Corsolini F., Uziel G., Sessa M., Di Rocco M., Parenti G., Deodato F., Leuzzi V. et al. |
| Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease. Filoni C., Caciotti A., Carraresi L., Donati M.A., Mignani R., Parini R., Filocamo M., Soliani F., Simi L., Guerrini R. et al. Eur. J. Hum. Genet. 16:1311-1317(2008) · Mapped (5) |
| Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. Pittis M.G., Donnarumma M., Montalvo A.L.E., Dominissini S., Kroos M., Rosano C., Stroppiano M., Bianco M.G., Donati M.A., Parenti G. et al. |
| Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. Bachetti T., Caroli F., Bocca P., Prigione I., Balbi P., Biancheri R., Filocamo M., Mariotti C., Pareyson D., Ravazzolo R. et al. Eur. J. Hum. Genet. 16:462-470(2008) · Mapped (7) |
| Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications. Regis S., Biancheri R., Bertini E., Burlina A., Lualdi S., Bianco M.G., Devescovi R., Rossi A., Uziel G., Filocamo M. Clin. Genet. 73:279-287(2008) · Mapped (13) |
| Molecular genetics of late onset glycogen storage disease II in Italy. Pittis M.G., Filocamo M. Acta Myol 26:67-71(2007) · Mapped (2) |
| GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. Caroli F., Biancheri R., Seri M., Rossi A., Pessagno A., Bugiani M., Corsolini F., Savasta S., Romano S., Antonelli C. et al. Clin. Genet. 72:427-433(2007) · Mapped (7) |
| Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. Fedele A.O., Filocamo M., Di Rocco M., Sersale G., Luebke T., di Natale P., Cosma M.P., Ballabio A. |
| Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. Biancheri R., Rossi A., Alpigiani G., Filocamo M., Gandolfo C., Lorini R., Minetti C. Eur. J. Paediatr. Neurol. 11:175-177(2007) · Mapped (10) |
| Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Parenti G., Zuppaldi A., Gabriela Pittis M., Rosaria Tuzzi M., Annunziata I., Meroni G., Porto C., Donaudy F., Rossi B., Rossi M. et al. Mol. Ther. 15:508-514(2007) · Mapped (2) |