• 603 Citations
  • 17 h-Index
1988 …2016
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Research Output 1988 2016

  • 603 Citations
  • 17 h-Index
  • 35 Article
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Article
2016
7 Citations (Scopus)

A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

Motta, I., Filocamo, M., Poggiali, E., Stroppiano, M., Dragani, A., Consonni, D., Barcellini, W., Gaidano, G., Facchini, L., Specchia, G. & Cappellini, M. D., Apr 1 2016, In : European Journal of Haematology. 96, 4, p. 352-359 8 p.

Research output: Contribution to journalArticle

Gaucher Disease
Splenomegaly
Thrombocytopenia
Multicenter Studies
Observational Studies

A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

Motta, I., Filocamo, M., Poggiali, E., Stroppiano, M., Dragani, A., Consonni, D., Barcellini, W., Gaidano, G., Facchini, L., Specchia, G. & Cappellini, M. D., Apr 1 2016, In : European Journal of Haematology. 96, 4, p. 352-359 8 p.

Research output: Contribution to journalArticle

Gaucher Disease
Splenomegaly
Thrombocytopenia
Multicenter Studies
Observational Studies
2015
13 Citations (Scopus)

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling

Zancan, I., Bellesso, S., Costa, R., Salvalaio, M., Stroppiano, M., Hammond, C., Argenton, F., Filocamo, M. & Moro, E., Mar 1 2015, In : Human Molecular Genetics. 24, 5, p. 1280-1294 15 p.

Research output: Contribution to journalArticle

Gaucher Disease
Catenins
Zebrafish
Osteogenesis
Oxidative Stress
2014
4 Citations (Scopus)

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

Siri, L., Rossi, A., Lanza, F., Mazzotti, R., Costa, A., Stroppiano, M., Gaiero, A., Cohen, A., Biancheri, R. & Filocamo, M., 2014, In : Neurogenetics. 15, 2, p. 101-106 6 p.

Research output: Contribution to journalArticle

Metachromatic Leukodystrophy
Siblings
Cerebroside-Sulfatase
Exons
Mutation
5 Citations (Scopus)
Glucosidases
Gaucher Disease
Blood
Assays
Cell Line
2010
52 Citations (Scopus)

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., Di Rocco, M., Cooper, D. N. & Filocamo, M., Dec 2010, In : Human Mutation. 31, 12

Research output: Contribution to journalArticle

Globoid Cell Leukodystrophy
Missense Mutation
Exons
Galactosylceramidase
Frameshift Mutation
2009
19 Citations (Scopus)

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. & Dardis, A., Feb 2009, In : Neurogenetics. 10, 1, p. 49-58 10 p.

Research output: Contribution to journalArticle

Sandhoff Disease
Alleles
Mutation
Genes
Messenger RNA
26 Citations (Scopus)

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

Tappino, B., Chuzhanova, N. A., Regis, S., Dardis, A., Corsolini, F., Stroppiano, M., Tonoli, E., Beccari, T., Rosano, C., Mucha, J., Blanco, M., Szlago, M., Di Rocco, M., Cooper, D. N. & Filocamo, M., Nov 2009, In : Human Mutation. 30, 11

Research output: Contribution to journalArticle

Uridine Diphosphate N-Acetylglucosamine
Mucolipidoses
Mutation
Uridine Diphosphate
Nonsense Codon
2008
28 Citations (Scopus)

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

Pittis, M. G., Donnarumma, M., Montalvo, A. L., Dominissini, S., Kroos, M., Rosano, C., Stroppiano, M., Bianco, M. G., Donati, M. A., Parenti, G., D'Amico, A., Ciana, G., Di Rocco, M., Reuser, A., Bembi, B. & Filocamo, M., Jun 2008, In : Human Mutation. 29, 6

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Mutation
Point Mutation
Proteins
Missense Mutation
2006
7 Citations (Scopus)

First-trimester fetal nuchal translucency and inherited metabolic disorders

De Biasio, P., Prefumo, F., Casagrande, V., Stroppiano, M., Venturini, P. L. & Filocamo, M., Jan 2006, In : Prenatal Diagnosis. 26, 1, p. 77-80 4 p.

Research output: Contribution to journalArticle

Nuchal Translucency Measurement
First Pregnancy Trimester
Fetus
Mucopolysaccharidosis II
Pelizaeus-Merzbacher Disease
24 Citations (Scopus)
Mucopolysaccharidosis II
Real-Time Polymerase Chain Reaction
Alleles
Messenger RNA
Terminator Codon
91 Citations (Scopus)

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

Montalvo, A. L. E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G. & Pittis, M. G., Oct 2006, In : Human Mutation. 27, 10, p. 999-1006 8 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Mutation
Alleles
Glucosidases
Genes
2005
23 Citations (Scopus)
Iduronate Sulfatase
Mucopolysaccharidosis II
Pseudogenes
Genetic Recombination
Polymerase Chain Reaction
4 Citations (Scopus)

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease [1]

Filocamo, M., Grossi, S., Stroppiano, M., Regis, S., Tortori-Donati, P., Allegri, A. & Di Rocco, M., Apr 1 2005, In : American Journal of Medical Genetics. 134 A, 1, p. 95-96 2 p.

Research output: Contribution to journalArticle

2004
28 Citations (Scopus)

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Pittis, M. G., Ricci, V., Guerci, V. I., Marçais, C., Ciana, G., Dardis, A., Gerin, F., Stroppiano, M., Vanier, M. T., Filocamo, M. & Bembi, B., Aug 2004, In : Human Mutation. 24, 2, p. 186-187 2 p.

Research output: Contribution to journalArticle

Sphingomyelin Phosphodiesterase
Initiator Codon
Type B Niemann-Pick Disease
Mutation
Acids
17 Citations (Scopus)

Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)

Filocamo, M., Mazzotti, R., Stroppiano, M., Grossi, S., Dravet, C. & Guerrini, R., Sep 2004, In : Epilepsia. 45, 9, p. 1154-1157 4 p.

Research output: Contribution to journalArticle

Progressive Myoclonic Epilepsy
Glucosylceramidase
Gaucher Disease
Seizures
Myoclonus
17 Citations (Scopus)

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

Ricci, V., Stroppiano, M., Corsolini, F., Di Rocco, M., Parenti, G., Regis, S., Grossi, S., Biancheri, R., Mazzotti, R. & Filocamo, M., Jul 2004, In : Human Mutation. 24, 1, p. 105 1 p.

Research output: Contribution to journalArticle

Mutation
Niemann-Pick Diseases
Exons
Alleles
Sphingomyelin Phosphodiesterase
2003
13 Citations (Scopus)

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome

Ricci, V., Filocamo, M., Regis, S., Corsolini, F., Stroppiano, M., Di Duca, M. & Gatti, R., Jul 1 2003, In : American Journal of Medical Genetics. 120 A, 1, p. 84-87 4 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Mutation
Iduronate Sulfatase
Mucopolysaccharidosis I
COS Cells
2002
38 Citations (Scopus)

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo, M., Mazzotti, R., Stroppiano, M., Seri, M., Giona, F., Parenti, G., Regis, S., Corsolini, F., Zoboli, S. & Gatti, R., Sep 2002, In : Human Mutation. 20, 3, p. 234-235 2 p.

Research output: Contribution to journalArticle

Glucosylceramidase
Gaucher Disease
Mutation
Genes
Alleles
22 Citations (Scopus)
Cerebroside-Sulfatase
Metachromatic Leukodystrophy
Alleles
Mutation
Enzymes
2001
8 Citations (Scopus)
Glycogen Storage Disease Type II
Catalytic Domain
Mutation
Glucosidases
Nonsense Codon
3 Citations (Scopus)

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene.

Filocamo, M., Regis, S., Mazzotti, R., Parenti, G., Stroppiano, M. & Gatti, R., Oct 2001, In : Journal of Medical Genetics. 38, 10

Research output: Contribution to journalArticle

37 Citations (Scopus)

Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation

Miano, M., Lanino, E., Gatti, R., Morreale, G., Fondelli, P., Celle, M. E., Stroppiano, M., Crescenzi, F. & Dini, G., 2001, In : Bone Marrow Transplantation. 27, 7, p. 747-751 5 p.

Research output: Contribution to journalArticle

Fucosidosis
Unrelated Donors
Bone Marrow Transplantation
Graft vs Host Disease
Evoked Potentials

La diagnosi molecolare nelle malattie lisosomiali

Translated title of the contribution: Molecular analysis of lysosomal storage diseaseFilocamo, M., Stroppiano, M., Regis, S., Mazzotti, R., Corsolini, F. & Bonuccelli, G., 2001, In : Gaslini. 33, 1, p. 75-83 9 p.

Research output: Contribution to journalArticle

Lysosomal Storage Diseases
Lysergic Acid Diethylamide
Inborn Genetic Diseases
Genetic Association Studies
Mutant Proteins
16 Citations (Scopus)

Prenatal diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

Regis, S., Filocamo, M., Mazzotti, R., Cusano, R., Corsolini, F., Bonuccelli, G., Stroppiano, M. & Gatti, R., 2001, In : Prenatal Diagnosis. 21, 8, p. 668-671 4 p.

Research output: Contribution to journalArticle

Pelizaeus-Merzbacher Disease
Proteolipids
Gene Duplication
Multiplex Polymerase Chain Reaction
Prenatal Diagnosis
2000
18 Citations (Scopus)

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II

Dagnino, F., Stroppiano, M., Regis, S., Bonuccelli, G. & Filocamo, M., Nov 2000, In : Human Heredity. 50, 6, p. 331-333 3 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Founder Effect
Haplotypes
Sicily
Glucosidases
11 Citations (Scopus)
1999
20 Citations (Scopus)
Glycogen Storage Disease
Glucose-6-Phosphatase
Mutation
Genes
Alleles
1998
18 Citations (Scopus)
Cerebroside-Sulfatase
Metachromatic Leukodystrophy
Alleles
vif Genes
Arylsulfatases
4 Citations (Scopus)

New mutation (S298P) in a patient with glycogen storage disease type IA

Stroppiano, M., Mazzotti, R., Regis, S. & Gatti, R., 1998, In : Human Mutation. 11, SUPPL 1

Research output: Contribution to journalArticle

1997
6 Citations (Scopus)
Cerebroside-Sulfatase
Metachromatic Leukodystrophy
Arylsulfatases
Mutation
Genes

Epidemiologia molecolare della glicogenosi tipo la nella casistica italiana: Possibilità di diagnosi non invasiva e prevenzione

Translated title of the contribution: Molecular epidemiology of glycogen storage disease type 1a in italian causistics: Application to non invasive diagnosis and preventionStroppiano, M., Regis, S., Gandullia, P., Rocco, M. D. I. & Gatti, R., 1997, In : Rivista Italiana di Pediatria. 23, 5, p. 940-943 4 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease
Molecular Epidemiology
Mutation
Alleles
Heterozygote
1996

Deficit di maltasi acida ad esordio precoce con esclusivo interessamento muscolare

Translated title of the contribution: Early-onset acid maltase deficiency with pure muscular involvementBado, M., Bruno, C., Stroppiano, M., Morreale, G., Minetti, C., Rimini, A. & Cordone, G., 1996, In : Rivista Italiana di Pediatria. 22, 2, p. 238-242 5 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Muscle Hypotonia
alpha-Glucosidases
Fatal Outcome
Transaminases
18 Citations (Scopus)
Cerebroside-Sulfatase
Metachromatic Leukodystrophy
Italy
Healthy Volunteers
Mutation
1988
6 Citations (Scopus)

Cytochrome c oxidase deficiency in three patients with Leigh's disease

Di Rocco, M., Veneselli, E., Ciccone, M. O., Taccone, A., Stroppiano, M. & Cottafava, F., Jun 1988, In : Journal of Inherited Metabolic Disease. 11, 2 Supplement, p. 189-192 4 p.

Research output: Contribution to journalArticle