Mirella Filocamo - G. Gaslini Institute - Dr.

Mirella Filocamo

G. Gaslini Institute

Dr.

Genoa, Italy | Italy

Mirella Filocamo - G. Gaslini Institute - Dr.

Mirella Filocamo

Introduction

Primary Affiliation: G. Gaslini Institute - Genoa, Italy , Italy

Publications

129Publications

2202Reads

55Profile Views

869PubMed Central Citations

UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease.

Blood Cells Mol Dis 2018 02 3;68:21-29. Epub 2016 Nov 3.

Department of Cell Research and Immunology, Tel Aviv University, 69978, Israel. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bcmd.2016.10.025DOI Listing
February 2018
42 Reads
2.650 Impact Factor

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.

Hum Mutat 2017 07 22;38(7):849-862. Epub 2017 May 22.

UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23243DOI Listing
July 2017
49 Reads
5.144 Impact Factor

Norrbottnian clinical variant of Gaucher disease in Southern Italy.

J Hum Genet 2017 Apr 22;62(4):507-511. Epub 2016 Dec 22.

Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2016.158DOI Listing
April 2017
25 Reads
2.462 Impact Factor

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Mol Genet Metab 2016 12 27;119(4):329-337. Epub 2016 Oct 27.

Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Via Gaslini 5, 16147 Genova, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.10.008DOI Listing
December 2016
4 Reads
2.625 Impact Factor

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Eur J Hum Genet 2016 11 30;24(11):1578-1583. Epub 2016 Mar 30.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital 'Spedali Civili', Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110045PMC
November 2016
47 Reads
2 Citations
4.350 Impact Factor

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

Eur J Haematol 2016 Apr 11;96(4):352-9. Epub 2015 Jun 11.

Department of Medicine and Medical Specialities, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ejh.12596DOI Listing
April 2016
37 Reads
1 Citation
2.070 Impact Factor

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Hum Mutat 2016 Feb 1;37(2):139-47. Epub 2015 Dec 1.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22923DOI Listing
February 2016
24 Reads
9 Citations
5.144 Impact Factor

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

Hum Mutat 2016 Jan 4;37(1):16-27. Epub 2015 Nov 4.

San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22919DOI Listing
January 2016
13 Reads
5 Citations
5.144 Impact Factor

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

Clin Biochem 2014 Sep 16;47(13-14):1293-6. Epub 2014 Jun 16.

Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinbiochem.2014.06.005DOI Listing
September 2014
13 Reads
2 Citations
2.230 Impact Factor

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Eur J Hum Genet 2014 Aug 8;22(8):988-94. Epub 2014 Jan 8.

1] Telethon Institute of Genetics and Medicine, Naples, Italy [2] Department of Translational Medicine, Federico II University of Naples, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984901PMC
August 2014
7 Reads
4 Citations
4.350 Impact Factor

Functional analysis of 11 novel GBA alleles.

Eur J Hum Genet 2014 Apr 11;22(4):511-6. Epub 2013 Sep 11.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953908PMC
April 2014
42 Reads
8 Citations
4.350 Impact Factor

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

Clin Genet 2014 Mar 27;85(3):267-72. Epub 2013 May 27.

Child Neurology and Psychiatry Unit.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.12154DOI Listing
March 2014
20 Reads
1 Citation
3.931 Impact Factor

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.

Gene 2014 Mar 12;537(2):348-51. Epub 2013 Dec 12.

San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Pediatric Immunohematology, San Raffaele Scientific Institute, Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.11.062DOI Listing
March 2014
18 Reads
2 Citations
2.140 Impact Factor

Unfolded protein response in Gaucher disease: from human to Drosophila.

Orphanet J Rare Dis 2013 Sep 11;8:140. Epub 2013 Sep 11.

Department of Cell Research and Immunology, Tel Aviv University, Levanon St, Ramat Aviv 69978, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819655PMC
September 2013
19 Reads
12 Citations
3.360 Impact Factor

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

Orphanet J Rare Dis 2013 Aug 30;8:129. Epub 2013 Aug 30.

UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G, Gaslini, Largo G, Gaslini 5, 16147 Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766640PMC
August 2013
20 Reads
7 Citations
3.360 Impact Factor

Quantifying the use of bioresources for promoting their sharing in scientific research.

Gigascience 2013 May 1;2(1). Epub 2013 May 1.

Epidémiologie et analyses en santé publique, Faculté de médecine, UMR1027 INSERM-Université de Toulouse III, 37 allées Jules Guesde, Toulouse Cedex 7, F-31073, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/2047-217X-2-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655103PMC
May 2013
35 Reads
17 Citations

ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease.

Hum Mol Genet 2013 Apr 18;22(7):1316-27. Epub 2012 Dec 18.

Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, Israel.

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2013/01/21/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds535
Publisher Site
http://dx.doi.org/10.1093/hmg/dds535DOI Listing
April 2013
37 Reads
7 Citations
6.393 Impact Factor

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase.

Blood Cells Mol Dis 2013 Feb 14;50(2):141-5. Epub 2012 Nov 14.

Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bcmd.2012.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547170PMC
February 2013
29 Reads
27 Citations
2.650 Impact Factor

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

JIMD Rep 2012 6;2:59-69. Epub 2011 Sep 6.

Regional Coordinator Centre for Rare Disease, University Hospital "Santa Maria della Misericordia", Piazzale "S. Maria della Misericordia", 15, 33100, Udine, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2011_49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509841PMC
February 2013
20 Reads
4 Citations

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Orphanet J Rare Dis 2013 Feb 2;8:19. Epub 2013 Feb 2.

Department of Neurological, Neuropsychological, Morphological, Motor Sciences, University of Verona, Verona, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570295PMC
February 2013
21 Reads
5 Citations
3.360 Impact Factor

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.

J Inherit Metab Dis 2012 Nov 19;35(6):1081-91. Epub 2012 Apr 19.

Department of Medical Chemistry, Biochemistry and Biotechnology, University of Milan, 20090, Segrate, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9478-xDOI Listing
November 2012
19 Reads
14 Citations
3.370 Impact Factor

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Mol Genet Metab 2012 Mar 17;105(3):450-6. Epub 2011 Dec 17.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, Modena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.12.008DOI Listing
March 2012
25 Reads
13 Citations
2.625 Impact Factor

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

J Mol Diagn 2011 Nov 30;13(6):648-56. Epub 2011 Aug 30.

CEINGE-Biotecnologie Avanzate Scarl, Università di Napoli Federico II, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2011.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194059PMC
November 2011
3 Reads
3 Citations
4.851 Impact Factor

Lysosomal storage disorders: molecular basis and laboratory testing.

Hum Genomics 2011 Mar;5(3):156-69

S.S.D. Lab. Diagnosi Pre-Postnatale Malattie Metaboliche, Dipartimento di Neuroscienze, IRCCS G. Gaslini, Largo G. Gaslini 5, Genova, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500170PMC
March 2011
4 Reads
15 Citations

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant.

Blood Cells Mol Dis 2011 Jan 23;46(1):4-10. Epub 2010 Nov 23.

Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, 69978, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bcmd.2010.10.012DOI Listing
January 2011
20 Reads
25 Citations
2.650 Impact Factor

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Hum Mutat 2010 Dec;31(12):E1894-914

S.S.D. Lab. Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3052420PMC
December 2010
10 Reads
22 Citations
5.144 Impact Factor

Craniosynostosis: A rare complication of pycnodysostosis.

Eur J Med Genet 2010 Mar-Apr;53(2):89-92. Epub 2010 Jan 5.

Department of Genetics, AP-HP Robert DEBRE University Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.12.001DOI Listing
July 2010
17 Reads
7 Citations
1.490 Impact Factor

Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes.

Nat Commun 2010 Jul 27;1:40. Epub 2010 Jul 27.

Dipartimento di Medicina Sperimentale e Clinica G. Salvatore, Università di Catanzaro Magna Græcia, viale Europa (Loc. Germaneto), Catanzaro 88100, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncomms1040DOI Listing
July 2010
14 Reads
40 Citations
10.742 Impact Factor

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.

Hum Mutat 2010 Apr;31(4):E1261-85

S.S.D. Lab. Diagnosi Pre-Postnatale Malattie Metaboliche, Dipartimento di Neuroscience, IRCCS G. Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21208DOI Listing
April 2010
27 Reads
3 Citations
5.144 Impact Factor

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

Eur J Hum Genet 2009 Sep 4;17(9):1160-4. Epub 2009 Mar 4.

Department of Pediatrics and Centre for Rare Diseases, University of Padova, Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2009.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986599PMC
September 2009
10 Reads
6 Citations
4.350 Impact Factor

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

Mol Genet Metab 2009 Aug 3;97(4):309-11. Epub 2009 May 3.

Regional Coordination Centre for Rare Diseases, University Hospital S. Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2009.04.011DOI Listing
August 2009
3 Reads
7 Citations
2.625 Impact Factor

PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.

Biochim Biophys Acta 2009 Jun 17;1792(6):548-54. Epub 2009 Apr 17.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2009.04.002DOI Listing
June 2009
4 Reads
8 Citations

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

Neurogenetics 2009 Feb 29;10(1):49-58. Epub 2008 Aug 29.

Unità di Malattie Metaboliche, IRCCS Burlo Garofolo, Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-008-0145-1DOI Listing
February 2009
18 Reads
6 Citations
2.884 Impact Factor

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Eur J Hum Genet 2008 Nov 18;16(11):1311-7. Epub 2008 Jun 18.

Metabolic and Muscular Unit, Clinic of Pediatric Neurology, AOU Meyer, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2008.109DOI Listing
November 2008
10 Reads
9 Citations
4.350 Impact Factor

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.

Eur J Hum Genet 2008 Apr 16;16(4):462-70. Epub 2008 Jan 16.

Laboratory of Molecular Genetics, G Gaslini Institute, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201995DOI Listing
April 2008
5 Reads
4 Citations
4.350 Impact Factor

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.

Hum Mutat 2007 May;28(5):524

Diagnosi Pre-Postnatale Malattie Metaboliche Laboratory, IRCCS G. Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9490DOI Listing
May 2007
8 Reads
16 Citations
5.144 Impact Factor

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

Eur J Paediatr Neurol 2007 May 24;11(3):175-7. Epub 2007 Jan 24.

Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto G Gaslini, Largo G Gaslini 5, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2006.11.013DOI Listing
May 2007
11 Reads
12 Citations
1.934 Impact Factor

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).

Mol Genet Metab 2007 Jan 20;90(1):77-80. Epub 2006 Sep 20.

Biochemistry, Endocrinology and Metabolism Unit, UCL Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.07.014DOI Listing
January 2007
6 Reads
2 Citations
2.625 Impact Factor

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

Mol Genet Metab 2006 Sep-Oct;89(1-2):150-5. Epub 2006 Jun 19.

Diagnosi Pre-Postnatale Malattie Metaboliche Laboratory-IRCCS G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.03.016DOI Listing
October 2006
15 Reads
1 Citation
2.625 Impact Factor

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

J Mol Med (Berl) 2006 Aug 13;84(8):692-700. Epub 2006 May 13.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, Largo G. Gaslini, Genova 16147, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00109-006-0057-1DOI Listing
August 2006
9 Reads
3 Citations
5.110 Impact Factor

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.

Biochim Biophys Acta 2006 Apr 9;1762(4):478-84. Epub 2006 Feb 9.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G.Gaslini-Largo G.Gaslini-16147 Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2006.01.003DOI Listing
April 2006
52 Reads
5 Citations

First-trimester fetal nuchal translucency and inherited metabolic disorders.

Prenat Diagn 2006 Jan;26(1):77-80

U.O. Ostetricia e Ginecologia, Istituto G. Gaslini, Università di Genova, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1341DOI Listing
January 2006
16 Reads
2 Citations
2.514 Impact Factor

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Nat Genet 2005 Oct 18;37(10):1038-40. Epub 2005 Sep 18.

Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1641DOI Listing
October 2005
22 Reads
157 Citations
29.352 Impact Factor

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Hum Mutat 2005 Sep;26(3):282

Unità di Malattie Metaboliche, IRCCS Burlo Garofolo, Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9363DOI Listing
September 2005
4 Reads
4 Citations
5.144 Impact Factor

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

Hum Mutat 2005 Aug;26(2):164

Unità di Malattie Metaboliche, I.R.C.C.S. Burlo Garofolo, Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9353DOI Listing
August 2005
15 Reads
9 Citations
5.144 Impact Factor

Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.

Neurogenetics 2005 May 13;6(2):73-8. Epub 2005 Apr 13.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-005-0214-7DOI Listing
May 2005
8 Reads
5 Citations
2.884 Impact Factor

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Hum Mutat 2005 Jan;25(1):100

Unità di Malattie Metaboliche, I.R.C.C.S. Burlo Garofolo, Trieste, Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, I.R.C.C.S.G. Gaslini, Genova and International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9301DOI Listing
January 2005
28 Reads
4 Citations
5.144 Impact Factor

Gaucher disease phenotype.

J Pediatr 2004 Dec;145(6):860; author reply 860-1

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2004.05.053DOI Listing
December 2004
46 Reads
3.790 Impact Factor

Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy.

Pathol Res Pract 2004 ;200(3):231-40

Dipartimento di Anatomia Patologia, Ospedale Pediatrico, Bambino Gesù, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.prp.2003.11.001DOI Listing
December 2004
18 Reads
7 Citations
1.562 Impact Factor

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

Epilepsia 2004 Sep;45(9):1154-7

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G.Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.0013-9580.2004.15904.xDOI Listing
September 2004
10 Reads
2 Citations
4.571 Impact Factor

Genetic disorders affecting white matter in the pediatric age.

Am J Med Genet B Neuropsychiatr Genet 2004 Aug;129B(1):85-93

Second Unit of Pediatrics, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30029DOI Listing
August 2004
11 Reads
8 Citations
3.420 Impact Factor

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.

Eur J Hum Genet 2004 Feb;12(2):150-4

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, Genova 16147, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201100DOI Listing
February 2004
9 Reads
4.350 Impact Factor

Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi.

J Nucl Med 2003 Aug;44(8):1253-62

Regional Center of Nuclear Medicine, University of Pisa Medical School, Via Roma 67, I-56126 Pisa, Italy.

View Article

Download full-text PDF

Source
August 2003
31 Reads
1 Citation
6.160 Impact Factor

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

Am J Med Genet A 2003 Jul;120A(1):84-7

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G.Gaslini, 16147 Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10215DOI Listing
July 2003
10 Reads
1 Citation
2.160 Impact Factor

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Hum Genet 2003 Apr 11;112(4):419-25. Epub 2003 Feb 11.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G.Gaslini, Largo G. Gaslini, 16147 Genoa, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00439-002-0900
Web Search
http://link.springer.de/link/service/journals/00439/contents
Publisher Site
http://dx.doi.org/10.1007/s00439-002-0900-6DOI Listing
April 2003
5 Reads
6 Citations
4.824 Impact Factor

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

AJNR Am J Neuroradiol 2003 Mar;24(3):398-400

Department of Radiology, Azienda Ospedaliera Istituti Clinici di Perfezionamento, Milano, Italy.

View Article

Download full-text PDF

Source
March 2003
8 Reads
1 Citation
3.590 Impact Factor

Basic fibroblast growth factor activates endothelial nitric-oxide synthase in CHO-K1 cells via the activation of ceramide synthesis.

Mol Pharmacol 2003 Feb;63(2):297-310

Pharmacology and Neurosciences, National Institute for Cancer Research c/o Advanced Biotechnology Center, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1124/mol.63.2.297DOI Listing
February 2003
3 Reads
8 Citations
4.130 Impact Factor

Nitric oxide production stimulated by the basic fibroblast growth factor requires the synthesis of ceramide.

Ann N Y Acad Sci 2002 Nov;973:94-104

Pharmacology and Neuroscience, National Institute for Cancer Research (IST), c/o Advanced Biotechnology Center (CBA), 16132 Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2002.tb04614.xDOI Listing
November 2002
5 Reads
3 Citations
4.313 Impact Factor

Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene.

DNA Seq 2002 Oct;13(5):245-50

Laboratorio di Diagnosi Pre e Postnatale di Malatie Metaboliche, Istituto G. Gaslini-Largo G. Gaslini 5, 16147 Genova, Italy.

View Article

Download full-text PDF

Source
October 2002
7 Reads
1 Citation

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

Hum Mutat 2002 Sep;20(3):234-5

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G.Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9058DOI Listing
September 2002
38 Reads
5 Citations
5.144 Impact Factor

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Hum Mutat 2002 Sep;20(3):231

Centro Ricerca Fondazione M. Tettamanti and BMT-Unit, Università di Milano-Bicocca, Ospedale San Gerardo, Monza, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9051DOI Listing
September 2002
1 Read
8 Citations
5.144 Impact Factor

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

Hum Genet 2002 Apr 8;110(4):351-5. Epub 2002 Mar 8.

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-002-0701-yDOI Listing
April 2002
5 Reads
4 Citations
4.824 Impact Factor

The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.

Biochim Biophys Acta 2001 Nov;1537(3):233-8

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0925-4439(01)00075-8DOI Listing
November 2001
3 Reads
1 Citation

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

Hum Mutat 2001 Aug;18(2):164-5

Laboratorio Diagnosi Pre-Postnatale delle Malattie Metaboliche, Istituto G. Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.1169DOI Listing
August 2001
1 Read
2 Citations
5.140 Impact Factor

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

Prenat Diagn 2001 Aug;21(8):668-71

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.112DOI Listing
August 2001
5 Reads
2 Citations
2.510 Impact Factor

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 Genet 2001 Jun;101(1):55-8

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini, 16147 Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.1310DOI Listing
June 2001
3 Reads
4 Citations

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

Hum Genet 2000 Dec;107(6):568-76

Department of Biochemistry and Medical Biotechnologies, University of Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s004390000429DOI Listing
December 2000
1 Read
8 Citations
4.820 Impact Factor

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.

Blood Cells Mol Dis 2000 Dec;26(6):611-2

Laboratorio Diagnosi PrePostnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini, 16147 Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1006/bcmd.2000.0341DOI Listing
December 2000
1 Read
2 Citations
2.650 Impact Factor

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

Hum Hered 2000 Nov-Dec;50(6):331-3

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000022938DOI Listing
September 2000
1 Read
2 Citations
1.470 Impact Factor

Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.

Blood Cells Mol Dis 2000 Aug;26(4):307-11

Laboratorio Diagnosi Pre/Postnatale Malattie Metaboliche, Istituto G. Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1006/bcmd.2000.0308DOI Listing
August 2000
1 Read
1 Citation
2.650 Impact Factor

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 Mol Dis 2000 Jun;26(3):171-6

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste, 34012, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1006/bcmd.2000.0293DOI Listing
June 2000
2 Reads
1 Citation
2.650 Impact Factor

A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.

Hum Mutat 2000 Apr;15(4):389

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G.Gaslini.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU30>3.0.CO;2-3DOI Listing
April 2000
2 Reads
5.140 Impact Factor

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.

Eur J Hum Genet 1999 Feb-Mar;7(2):125-30

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5200266DOI Listing
June 1999
1 Read
1 Citation
4.350 Impact Factor

A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.

Clin Genet 1998 Jun;53(6):474-7

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1399-0004.1998.tb02598.xDOI Listing
June 1998
1 Read
1 Citation
3.930 Impact Factor

A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.

Clin Genet 1998 Apr;53(4):281-5

Department of Pediatrics, Federico II University, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1399-0004.1998.tb02697.xDOI Listing
April 1998
2 Reads
1 Citation
3.930 Impact Factor

Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?

Am J Respir Crit Care Med 1998 Mar;157(3 Pt 1):985-9

Department of Pediatrics, Federico II University, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1164/ajrccm.157.3.9706057DOI Listing
March 1998
2 Reads
6 Citations
13.000 Impact Factor

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.

Hum Genet 1998 Jan;102(1):50-3

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini-Largo G. Gaslini 5, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s004390050652DOI Listing
January 1998
7 Reads
2 Citations
4.820 Impact Factor

Mutations among Italian mucopolysaccharidosis type I patients.

J Inherit Metab Dis 1997 Nov;20(6):803-6

Laboratorio di Diagnosi Pre e Postnatale delle Malattie Metaboliche, G. Gaslini Institute, Genova.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1023/a:1005323918923DOI Listing
November 1997
1 Read
6 Citations
3.370 Impact Factor

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.

Clin Genet 1997 Jul;52(1):65-7

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1399-0004.1997.tb02518.xDOI Listing
July 1997
2 Reads
1 Citation
3.930 Impact Factor

Mutations in fucosidosis gene: a review.

Acta Genet Med Gemellol (Roma) 1995 ;44(3-4):223-32

Istituto di Genetica Medica e Gemellogia, G. Mendel, Roma.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/s0001566000001641DOI Listing
October 1996
6 Reads
1 Citation

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

J Med Genet 1996 Mar;33(3):251-2

Laboratorio di Diagnosi Pre e Post Natale di Malattie Metaboliche, Istituto G Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051880PMC
http://dx.doi.org/10.1136/jmg.33.3.251DOI Listing
March 1996
1 Read
1 Citation
6.340 Impact Factor

A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.

Clin Genet 1995 Sep;48(3):123-7

III Divisione Pediatrica, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1399-0004.1995.tb04070.xDOI Listing
September 1995
2 Reads
3.930 Impact Factor

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.

Hum Genet 1995 Aug;96(2):233-5

Laboratorio di Diagnosi Pre e Post-Natale di Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/bf00207387DOI Listing
August 1995
1 Read
4.820 Impact Factor

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

Hum Mol Genet 1994 Nov;3(11):2065-6

Department of Neurosciences, University of California at San Diego, La Jolla 92093-0634.

View Article

Download full-text PDF

Source
November 1994
1 Read
3 Citations
6.390 Impact Factor

Sjögren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy.

J Inherit Metab Dis 1994 ;17(1):112-4

Servizio di Neuroradiologia, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/bf00735407DOI Listing
September 1994
1 Read
3.370 Impact Factor

Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.

J Inherit Metab Dis 1991 ;14(2):189-201

Dipartimento di Biochimica, University of Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/bf01800591DOI Listing
October 1991
2 Reads
3.370 Impact Factor

[Fucosidosis: review of personal experience].

Pediatr Med Chir 1982 May-Jun;4(3):185-94

View Article

Download full-text PDF

Source
June 1983
1 Read

[Mannosidosis. Study of two families and prenatal diagnosis].

Pediatr Med Chir 1982 May-Jun;4(3):203-14

View Article

Download full-text PDF

Source
June 1983
1 Read
1 Citation