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Mirella Filocamo

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Physiology

Procedures

DNA Mutational Analysis

Geographic Areas

Italy

Genes & Molecular Sequences

Alleles

Disorders

Chemicals & Drugs

Living Beings

Infant

Concepts & Ideas

Molecular Sequence Data

Anatomy

COS Cells

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Co-Publications
Name
30
Regis, Stefano
28
Corsolini, Fabio
22
Stroppiano, Marina
16
Gatti, Rosanna
15
Di Rocco, Maja
13
Bembi, Bruno
12
Biancheri, Roberta
11
Mazzotti, Raffaella
9
Pittis, Maria Gabriela
9
Bonuccelli, G
7
Borrone, C
7
Di Natale, Paola
7
Dardis, Andrea
7
Parenti, Giancarlo
7
Grossi, Serena

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Publications

TOP 3
Tappino Barbara; Chuzhanova Nadia A; Regis Stefano; Dardis Andrea; Corsolini Fabio; Stroppiano Marina; Tonoli Emmanuel; Beccari Tommaso; Rosano Camillo; Mucha Jan; Blanco Mariana; Szlago Marina; Di Rocco Maja; Cooper David N; Filocamo Mirella
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.
Dardis Andrea; Filocamo Mirella; Grossi Serena; Ciana Giovanni; Franceschetti Silvana; Dominissini Silvia; Rubboli Guido; Di Rocco Maya; Bembi Bruno
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
Regis Stefano; Grossi Serena; Corsolini Fabio; Biancheri Roberta; Filocamo Mirella
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.

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All Publications

2009: Tappino Barbara; Chuzhanova Nadia A; Regis Stefano; Dardis Andrea; Corsolini Fabio; Stroppiano Marina; Tonoli Emmanuel; Beccari Tommaso; Rosano Camillo; Mucha Jan; Blanco Mariana; Szlago Marina; Di Rocco Maja; Cooper David N; Filocamo Mirella
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.
Human mutation 2009;30(11):E956-73.
2009: Dardis Andrea; Filocamo Mirella; Grossi Serena; Ciana Giovanni; Franceschetti Silvana; Dominissini Silvia; Rubboli Guido; Di Rocco Maya; Bembi Bruno
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
Molecular genetics and metabolism 2009;97(4):309-11.
2009: Regis Stefano; Grossi Serena; Corsolini Fabio; Biancheri Roberta; Filocamo Mirella
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
Biochimica et biophysica acta 2009;1792(6):548-54.
2009: Persichetti Emanuele; Chuzhanova Nadia A; Dardis Andrea; Tappino Barbara; Pohl Sandra; Thomas Nick S T; Rosano Camillo; Balducci Chiara; Paciotti Silvia; Dominissini Silvia; Montalvo Anna Lisa; Sibilio Michela; Parini Rossella; Rigoldi Miriam; Di Rocco Maja; Parenti Giancarlo; Orlacchio Aldo; Bembi Bruno; Cooper David N; Filocamo Mirella; Beccari Tommaso
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.
Human mutation 2009;30(6):978-84.
2009: Zampieri Stefania; Filocamo Mirella; Buratti Emanuele; Stroppiano Marina; Vlahovicek Kristian; Rosso Natalia; Bignulin Eleonora; Regis Stefano; Carnevale Franco; Bembi Bruno; Dardis Andrea
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
Neurogenetics 2009;10(1):49-58.
2008: Grossi Serena; Regis Stefano; Rosano Camillo; Corsolini Fabio; Uziel Graziella; Sessa Maria; Di Rocco Maja; Parenti Giancarlo; Deodato Federica; Leuzzi Vincenzo; Biancheri Roberta; Filocamo Mirella
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Human mutation 2008;29(11):E220-30.
2008: Filoni Camilla; Caciotti Anna; Carraresi Laura; Donati Maria Alice; Mignani Renzo; Parini Rossella; Filocamo Mirella; Soliani Fausto; Simi Lisa; Guerrini Renzo; Zammarchi Enrico; Morrone Amelia
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
European journal of human genetics : EJHG 2008;16(11):1311-7.
2008: Santamaria Raül; Michelakakis Helen; Moraitou Marina; Dimitriou Evangelia; Dominissini Silvia; Grossi Serena; Sánchez-Ollé Gessamí; Chabás Amparo; Pittis María Gabriela; Filocamo Mirella; Vilageliu Lluïsa; Grinberg Daniel
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Human mutation 2008;29(6):E58-67.
2008: 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; D'Amico A; Ciana G; Di Rocco M; Reuser A; Bembi B; Filocamo M
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Human mutation 2008;29(6):E27-36.
2008: Bachetti Tiziana; Caroli Francesco; Bocca Paola; Prigione Ignazia; Balbi Pietro; Biancheri Roberta; Filocamo Mirella; Mariotti Caterina; Pareyson Davide; Ravazzolo Roberto; Ceccherini Isabella
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
European journal of human genetics : EJHG 2008;16(4):462-70.
2008: Regis S; Biancheri R; Bertini E; Burlina A; Lualdi S; Bianco M G; Devescovi R; Rossi A; Uziel G; Filocamo M
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
Clinical genetics 2008;73(3):279-87.
2008: Tappino B; Regis S; Corsolini F; Filocamo M
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.
Molecular genetics and metabolism 2008;93(2):129-33.
2007: Caroli F; Biancheri R; Seri M; Rossi A; Pessagno A; Bugiani M; Corsolini F; Savasta S; Romano S; Antonelli C; Romano A; Pareyson D; Gambero P; Uziel G; Ravazzolo R; Ceccherini I; Filocamo M
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Clinical genetics 2007;72(5):427-33.
2007: Raja M; Azzoni A; Giona F; Regis S; Grossi S; Filocamo M; Sidransky E
Movement and mood disorder in two brothers with Gaucher disease.
Clinical genetics 2007;72(4):357-61.
2007: Pittis M G; Filocamo M
Molecular genetics of late onset glycogen storage disease II in Italy.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(1):67-71.
2007: Donnarumma Michela; Regis Stefano; Tappino Barbara; Rosano Camillo; Assereto Stefania; Corsolini Fabio; Di Rocco Maja; Filocamo Mirella
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
Human mutation 2007;28(5):524.
2007: Fedele Anthony Olind; Filocamo Mirella; Di Rocco Maja; Sersale Giovanna; Lübke Torben; di Natale Paola; Cosma Maria Pia; Ballabio Andrea
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
Human mutation 2007;28(5):523.
2007: Biancheri Roberta; Rossi Andrea; Alpigiani Giannina; Filocamo Mirella; Gandolfo Carlo; Lorini Renata; Minetti Carlo
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(3):175-7.
2007: Parenti Giancarlo; Zuppaldi Alfredo; Gabriela Pittis M; Rosaria Tuzzi M; Annunziata Ida; Meroni Germana; Porto Caterina; Donaudy Francesca; Rossi Barbara; Rossi Massimiliano; Filocamo Mirella; Donati Alice; Bembi Bruno; Ballabio Andrea; Andria Generoso
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(3):508-14.
2007: Caciotti Anna; Donati Maria Alice; Procopio Elena; Filocamo Mirella; Kleijer Wim; Wuyts Wim; Blaumeiser Bettina; d'Azzo Alessandra; Simi Lisa; Orlando Claudio; McKenzie Fiona; Fiumara Agata; Zammarchi Enrico; Morrone Amelia
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Human mutation 2007;28(2):204.
2007: Beesley Clare E; Concolino Daniela; Filocamo Mirella; Winchester Bryan G; Strisciuglio Pietro
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
Molecular genetics and metabolism 2007;90(1):77-80.
2007: Pittis M G; Montalvo A L E; Heikinheimo P; Sbaragli M; Balducci C; Persichetti E; Van Maldergem L; Filocamo M; Bembi B; Beccari T
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.
Clinica chimica acta; international journal of clinical chemistry 2007;375(1-2):136-9.
2006: 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
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Human mutation 2006;27(10):999-1006.
2006: Regis Stefano; Lualdi Susanna; Biffi Alessandra; Sessa Maria; Corsolini Fabio; Parenti Giancarlo; Filocamo Mirella
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
Molecular genetics and metabolism 2006;89(1-2):150-5.
2006: Lualdi Susanna; Pittis Maria G; Regis Stefano; Parini Rossella; Allegri Anna E; Furlan Francesca; Bembi Bruno; Filocamo Mirella
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
Journal of molecular medicine (Berlin, Germany) 2006;84(8):692-700.
2006: Lucchiari S; Pagliarani S; Salani S; Filocamo M; Di Rocco M; Melis D; Rodolico C; Musumeci O; Toscano A; Bresolin N; Comi G P
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
Human mutation 2006;27(6):600-1.
2006: Lualdi Susanna; Di Rocco Maja; Corsolini Fabio; Spada Marco; Bembi Bruno; Cotugno Giovanna; Battini Roberta; Stroppiano Marina; Gabriela Pittis Maria; Filocamo Mirella
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.
Biochimica et biophysica acta 2006;1762(4):478-84.
2006: De Biasio Pierangela; Prefumo Federico; Casagrande Valentina; Stroppiano Marina; Venturini Pier Luigi; Filocamo Mirella
First-trimester fetal nuchal translucency and inherited metabolic disorders.
Prenatal diagnosis 2006;26(1):77-80.
2005: Biancheri R; Rossi A; Verbeek H A; Schot R; Corsolini F; Assereto S; Mancini G M S; Verheijen F W; Minetti C; Filocamo M
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Neurogenetics 2005;6(4):195-9.
2005: Aoki Yoko; Niihori Tetsuya; Kawame Hiroshi; Kurosawa Kenji; Ohashi Hirofumi; Tanaka Yukichi; Filocamo Mirella; Kato Kumi; Suzuki Yoichi; Kure Shigeo; Matsubara Yoichi
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
Nature genetics 2005;37(10):1038-40.
2005: Montalvo Anna Lisa E; Filocamo Mirella; Vlahovicek Kristian; Dardis Andrea; Lualdi Susanna; Corsolini Fabio; Bembi Bruno; Pittis Maria Gabriela
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Human mutation 2005;26(3):282.
2005: Di Rocco M; Rossi A; Parenti G; Allegri A E M; Filocamo M; Pessagno A; Tortori-Donati P; Minetti C; Biancheri R
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders.
Neuropediatrics 2005;36(4):265-9.
2005: Dardis Andrea; Zampieri Stefania; Filocamo Mirella; Burlina Alberto; Bembi Bruno; Pittis Maria Gabriela
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Human mutation 2005;26(2):164.
2005: Lualdi Susanna; Regis Stefano; Di Rocco Maja; Corsolini Fabio; Stroppiano Marina; Antuzzi Daniela; Filocamo Mirella
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Human mutation 2005;25(5):491-7.
2005: Regis Stefano; Grossi Serena; Lualdi Susanna; Biancheri Roberta; Filocamo Mirella
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.
Neurogenetics 2005;6(2):73-8.
2005: Filocamo Mirella; Grossi Serena; Stroppiano Marina; Tortori-Donati Paolo; Regis Stefano; Allegri Anna; Di Rocco Maja
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
American journal of medical genetics. Part A 2005;134A(1):95-6.
2005: Miocic Snjezana; Filocamo Mirella; Dominissini Silvia; Montalvo Anna Lisa E; Vlahovicek Kristian; Deganuto Marta; Mazzotti Raffaella; Cariati Roberta; Bembi Bruno; Pittis Maria Gabriela
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Human mutation 2005;25(1):100.
2004: Di Rocco Maja; Allegri Anna E M; Grossi Serena; Filocamo Mirella
Gaucher disease phenotype.
The Journal of pediatrics 2004;145(6):860; author reply 860-1.
2004: Filocamo Mirella; Mazzotti Raffaella; Stroppiano Marina; Grossi Serena; Dravet Charlotte; Guerrini Renzo
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
Epilepsia 2004;45(9):1154-7.
2004: Di Rocco Maja; Biancheri Roberta; Rossi Andrea; Filocamo Mirella; Tortori-Donati Paolo
Genetic disorders affecting white matter in the pediatric age.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;129B(1):85-93.
2004: Tomatsu Shunji; Filocamo Mirella; Orii Koji O; Sly William S; Gutierrez Monica A; Nishioka Tatsuo; Serrato Olga Peña; Di Natale Paola; Montaño Adriana Maria; Yamaguchi Seiji; Kondo Naomi; Orii Tadao; Noguchi Akihiko
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
Human mutation 2004;24(2):187-8.
2004: 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
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Human mutation 2004;24(2):186-7.
2004: Ricci V; Stroppiano M; Corsolini F; Di Rocco M; Parenti G; Regis S; Grossi S; Biancheri R; Mazzotti R; Filocamo M
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Human mutation 2004;24(1):105.
2004: Cosma Maria Pia; Pepe Stefano; Parenti Giancarlo; Settembre Carmine; Annunziata Ida; Wade-Martins Richard; Di Domenico Carmela; Di Natale Paola; Mankad Anuj; Cox Barbara; Uziel Graziella; Mancini Grazia M S; Zammarchi Enrico; Donati Maria Alice; Kleijer Wim J; Filocamo Mirella; Carrozzo Romeo; Carella Massimo; Ballabio Andrea
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Human mutation 2004;23(6):576-81.
2004: Regis Stefano; Corsolini Fabio; Ricci Verena; Di Duca Marco; Filocamo Mirella
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
European journal of human genetics : EJHG 2004;12(2):150-4.
2004: Bruno C; Bertini E; Federico A; Tonoli E; Lispi M L; Cassandrini D; Pedemonte M; Santorelli F M; Filocamo M; Dotti M T; Schenone A; Malandrini A; Minetti C
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Neurology 2004;62(1):13-6.
2004: Boldrini Renata; Devito Rita; Biselli Roberto; Filocamo Mirella; Bosman Cesare
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.
Pathology, research and practice 2004;200(3):231-40.
2003: Biancheri R; Rossi A; Di Rocco M; Filocamo M; Pronk J C; van der Knaap M S; Tortori-Donati P
Leukoencephalopathy with vanishing white matter:: an adult onset case.
Neurology 2003;61(12):1818-9.
2003: Lucchiari S; Donati M A; Melis D; Filocamo M; Parini R; Bresolin N; Comi G P
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Human mutation 2003;22(4):337.
2003: Concolino D; Mussari A; Filocamo M; Strisciuglio P
Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.
Clinical genetics 2003;64(3):261-2.
2003: Mariani Giuliano; Filocamo Mirella; Giona Fiorina; Villa Giuseppe; Amendola Angela; Erba Paola; Buffoni Ferdinando; Copello Francesco; Pierini Anna; Minichilli Fabrizio; Gatti Rosanna; Brady Roscoe O
Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2003;44(8):1253-62.
2003: Ricci Verena; Filocamo Mirella; Regis Stefano; Corsolini Fabio; Stroppiano Marina; Di Duca Marco; Gatti Rosanna
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
American journal of medical genetics. Part A 2003;120A(1):84-7.
2003: Ricci Verena; Regis Stefano; Di Duca Marco; Filocamo Mirella
An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.
Human genetics 2003;112(4):419-25.
2003: Parazzini Cecilia; Arena Saverio; Marchetti Lucrezia; Menni Francesca; Filocamo Mirella; Verheijen Frans W; Mancini Grazia M S; Triulzi Fabio; Parini Rossella
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.
AJNR. American journal of neuroradiology 2003;24(3):398-400.
2003: Florio Tullio; Arena Sara; Pattarozzi Alessandra; Thellung Stefano; Corsaro Alessandro; Villa Valentina; Massa Alessandro; Diana Fabrizio; Spoto Giuseppe; Forcella Sabrina; Damonte Gianluca; Filocamo Mirella; Benatti Umberto; Schettini Gennaro
Basic fibroblast growth factor activates endothelial nitric-oxide synthase in CHO-K1 cells via the activation of ceramide synthesis.
Molecular pharmacology 2003;63(2):297-310.
2002: Arena Sara; Pattarozzi Alessandra; Thellung Stefano; Villa Valentina; Corsaro Alessandro; Massa Alessandro; Diana Fabrizio; Spoto Giuseppe; Forcella Sabrina; Damonte Gianluca; Filocamo Mirella; Benatti Umberto; Schettini Gennaro; Florioa Tullio
Nitric oxide production stimulated by the basic fibroblast growth factor requires the synthesis of ceramide.
Annals of the New York Academy of Sciences 2002;973():94-104.
2002: Regis Stefano; Dagnino Fabio; Caroli Francesco; Filocamo Mirella
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene.
DNA sequence : the journal of DNA sequencing and mapping 2002;13(5):245-50.
2002: Filocamo Mirella; Mazzotti Raffaella; Stroppiano Marina; Seri Marco; Giona Fiorina; Parenti Giancarlo; Regis Stefano; Corsolini Fabio; Zoboli Stefania; Gatti Rosanna
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Human mutation 2002;20(3):234-5.
2002: Venturi N; Rovelli A; Parini R; Menni F; Brambillasca F; Bertagnolio F; Uziel G; Gatti R; Filocamo M; Donati M A; Biondi A; Goldwurm S
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
Human mutation 2002;20(3):231.
2002: Regis Stefano; Corsolini Fabio; Stroppiano Marina; Cusano Roberto; Filocamo Mirella
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
Human genetics 2002;110(4):351-5.
2001: Bonuccelli G; Di Natale P; Corsolini F; Villani G; Regis S; Filocamo M
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Biochimica et biophysica acta 2001;1537(3):233-8.
2001: Filocamo M; Regis S; Mazzotti R; Parenti G; Stroppiano M; Gatti R
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene.
Journal of medical genetics 2001;38(10):E34.
2001: Regis S; Filocamo M; Mazzotti R; Cusano R; Corsolini F; Bonuccelli G; Stroppiano M; Gatti R
Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
Prenatal diagnosis 2001;21(8):668-71.
2001: Filocamo M; Bonuccelli G; Corsolini F; Mazzotti R; Cusano R; Gatti R
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Human mutation 2001;18(2):164-5.
2001: Stroppiano M; Bonuccelli G; Corsolini F; Filocamo M
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).
American journal of medical genetics 2001;101(1):55-8.
2000: Filocamo M; Bonuccelli G; Mazzotti R; Corsolini F; Stroppiano M; Regis S; Gatti R
Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.
Blood cells, molecules & diseases 2000;26(6):611-2.
2000: Tessitore A; Villani G R; Di Domenico C; Filocamo M; Gatti R; Di Natale P
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
Human genetics 2000;107(6):568-76.
2000: Dagnino F; Stroppiano M; Regis S; Bonuccelli G; Filocamo M
Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.
Human heredity 2000;50(6):331-3.
2000: Filocamo M; Bonuccelli G; Mazzotti R; Giona F; Gatti R
Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
Blood cells, molecules & diseases 2000;26(4):307-11.
2000: Romano M; Danek G M; Baralle F E; Mazzotti R; Filocamo M
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.
Blood cells, molecules & diseases 2000;26(3):171-6.
2000: Bonuccelli G; Filocamo M; Regis S; Corsolini F; Mazzotti R; Gatti R
A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.
Human mutation 2000;15(4):389.
1999: Di Natale P; Villani G R; Esposito S; Balzano N; Filocamo M; Gatti R
Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele.
Prenatal diagnosis 1999;19(10):993-4.
1999: Regis S; Filocamo M; Corsolini F; Caroli F; Keulemans J L; van Diggelen O P; Gatti R
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
European journal of human genetics : EJHG 1999;7(2):125-30.
1998: Bonuccelli G; Regis S; Filocamo M; Corsolini F; Caroli F; Gatti R
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
Clinical genetics 1998;53(6):474-7.
1998: Parenti G; Filocamo M; Titomanlio L; Rizzolo G; Silvestro E; Perretti A; Gatti R; Andria G
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
Clinical genetics 1998;53(4):281-5.
1998: Santamaria F; Parenti G; Guidi G; Filocamo M; Strisciuglio P; Grillo G; Farina V; Sarnelli P; Rizzolo M G; Rotondo A; Andria G
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
American journal of respiratory and critical care medicine 1998;157(3 Pt 1):985-9.
1998: Regis S; Filocamo M; Stroppiano M; Corsolini F; Caroli F; Gatti R
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.
Human genetics 1998;102(1):50-3.
1997: Gatti R; DiNatale P; Villani G R; Filocamo M; Muller V; Guo X H; Nelson P V; Scott H S; Hopwood J J
Mutations among Italian mucopolysaccharidosis type I patients.
Journal of inherited metabolic disease 1997;20(6):803-6.
1997: Regis S; Filocamo M; Stroppiano M; Corsolini F; Gatti R
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.
Clinical genetics 1997;52(1):65-7.
1996: Regis S; Filocamo M; Stroppiano M; Corsolini F; Gatti R
Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.
Journal of medical genetics 1996;33(3):251-2.
1995: Seri M; Filocamo M; Corsolini F; Bembi B; Barbera C; Gatti R
A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
Clinical genetics 1995;48(3):123-7.
1995: Regis S; Carrozzo R; Filocamo M; Serra G; Mastropaolo C; Gatti R
An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.
Human genetics 1995;96(2):233-5.
1994: Di Rocco M; Filocamo M; Tortori-Donati P; Veneselli E; Borrone C; Rizzo W B
Sjögren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy.
Journal of inherited metabolic disease 1994;17(1):112-4.
1991: Tenni R; Biglino P; Dyne K; Rossi A; Filocamo M; Pendola F; Brunelli P; Buttitta P; Borrone C; Cetta G
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.
Journal of inherited metabolic disease 1991;14(2):189-201.
1990: Pendola F; Borrone C; Filocamo M; Lituania M; Steinmann B; Superti-Furga A
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.
European journal of pediatrics 1990;149(6):403-5.
1985: Gatti R; Lombardo C; Filocamo M; Borrone C; Porro E
Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
Prenatal diagnosis 1985;5(5):329-36.
1985: Gatti R; Borrone C; Filocamo M; Pannone N; Di Natale P
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.
Prenatal diagnosis 1985;5(2):149-54.
1983: Garibaldi L R; Canini S; Superti-Furga A; Lamedica G; Filocamo M; Marchese N; Borrone C
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.
The Journal of pediatrics 1983;103(6):927-30.
1982: Cerruti Mainardi P; Gatti R; Javarone A; Filocamo M; Levis F; Borrone C
[Mannosidosis. Study of two families and prenatal diagnosis]
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1982;4(3):203-14.
1982: Filocamo M; Di Rocco M; Rolando S; Schiappapietra M; Costantino G
[Fucosidosis: review of personal experience]
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1982;4(3):185-94.

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