Marina Stroppiano

2016

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

Metachromatic Leukodystrophy

Siblings

Cerebroside-Sulfatase

Exons

Mutation

5 Citations (Scopus)

Validity of β-d-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients

Stroppiano, M., Calevo, M. G., Corsolini, F., Cassanello, M., Cassinerio, E., Lanza, F., Stroppiana, G., Cappellini, M. D. & Filocamo, M., 2014, In : Clinical Biochemistry. 47, 13-14, p. 1293-1296 4 p.

Research output: Contribution to journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

Nuchal Translucency Measurement

First Pregnancy Trimester

Fetus

Mucopolysaccharidosis II

Pelizaeus-Merzbacher Disease

24 Citations (Scopus)

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms

Lualdi, S., Di Rocco, M., Corsolini, F., Spada, M., Bembi, B., Cotugno, G., Battini, R., Stroppiano, M., Gabriela Pittis, M. & Filocamo, M., Apr 2006, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1762, 4, p. 478-484 7 p.

Research output: Contribution to journal › Article

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 journal › Article

Glycogen Storage Disease Type II

Mutation

Alleles

Glucosidases

Genes

2005

23 Citations (Scopus)

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis type II revealed by a rapid PCR-based method

Lualdi, S., Regis, S., Di Rocco, M., Corsolini, F., Stroppiano, M., Antuzzi, D. & Filocamo, M., May 2005, In : Human Mutation. 25, 5, p. 491-497 7 p.

Research output: Contribution to journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

Glucosylceramidase

Gaucher Disease

Mutation

Genes

Alleles

22 Citations (Scopus)

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

Regis, S., Corsolini, F., Stroppiano, M., Cusano, R. & Filocamo, M., Apr 2002, In : Human Genetics. 110, 4, p. 351-355 5 p.

Research output: Contribution to journal › Article

Cerebroside-Sulfatase

Metachromatic Leukodystrophy

Alleles

Mutation

Enzymes

2001

8 Citations (Scopus)

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)

Stroppiano, M., Bonuccelli, G., Corsolini, F. & Filocamo, M., Jun 1 2001, In : American Journal of Medical Genetics. 101, 1, p. 55-58 4 p.

Research output: Contribution to journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

Glycogen Storage Disease Type II

Founder Effect

Haplotypes

Sicily

Glucosidases

11 Citations (Scopus)

Somatic mosaicism in a patient with gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making

Filocamo, M., Bonuccelli, G., Mazzotti, R., Corsolini, F., Stroppiano, M., Regis, S. & Gatti, R., 2000, In : Blood cells, molecules & diseases. 26, 6, p. 611-612 2 p.

Research output: Contribution to journal › Article

1999

20 Citations (Scopus)

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia

Stroppiano, M., Regis, S., DiRocco, M., Caroli, F., Gandullia, P. & Gatti, R., 1999, In : Journal of Inherited Metabolic Disease. 22, 1, p. 43-49 7 p.

Research output: Contribution to journal › Article

Glycogen Storage Disease

Glucose-6-Phosphatase

Mutation

Genes

Alleles

1998

18 Citations (Scopus)

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms

Regis, S., Filocamo, M., Stroppiano, M., Corsolini, F., Caroli, F. & Gatti, R., 1998, In : Human Genetics. 102, 1, p. 50-53 4 p.

Research output: Contribution to journal › Article

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 journal › Article

1997

6 Citations (Scopus)

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient

Regis, S., Filocamo, M., Stroppiano, M., Corsolini, F. & Gatti, R., 1997, In : Clinical Genetics. 52, 1, p. 65-67 3 p.

Research output: Contribution to journal › Article

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 journal › Article

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 journal › Article

Glycogen Storage Disease Type II

Muscle Hypotonia

alpha-Glucosidases

Fatal Outcome

Transaminases

18 Citations (Scopus)