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Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Human mutation, 2004-06, Vol.23 (6), p.576-581

2004

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The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure

PloS one, 2015-07, Vol.10 (7), p.e0131662-e0131662

2015

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Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

Human mutation, 2004-08, Vol.24 (2), p.187-188

2004

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Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

Case Reports in Medicine, 2013-01, Vol.2013 (2013), p.98-101-225

2013

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Mucopolysaccharidosis IIIB: Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis

Brain research, 2009-07, Vol.1279, p.99-108

2009

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Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2627-2632

2014

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Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB

Journal of neuroscience research, 2007-02, Vol.85 (3), p.612-622

2007

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Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.479-493

2012

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Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector

Human gene therapy, 2005, Vol.16 (1), p.81-90

2005

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Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2

EMBO reports, 2005-07, Vol.6 (7), p.655-660

2005

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Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1209-1218

2009

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Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector

Biochemical journal, 2005-06, Vol.388 (Pt 2), p.639-646

2005

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Autobiografia e didattica: L'identità riflessiva nei percorsi educativi

2003

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Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Human mutation, 1997, Vol.10 (5), p.368-375

1997

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Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Human mutation, 2007-05, Vol.28 (5), p.523-523

2007

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Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

Biotechnology and applied biochemistry, 2008-03, Vol.49 (3), p.219-223

2008

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Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient

Genetic testing and molecular biomarkers, 2010-02, Vol.14 (1), p.113-120

2010

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Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

European journal of human genetics : EJHG, 2006-07, Vol.14 (7), p.838-845

2006

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Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

Human mutation, 1997, Vol.10 (1), p.71-75

1997

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Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2

EMBO reports, 2016-12, Vol.17 (12), p.1901-1901

2016

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Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

Human mutation, 1998, Vol.11 (4), p.313-320

1998

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Serum MIP-1 α level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

Journal of inherited metabolic disease, 2010-04, Vol.33 (2), p.159-165

2010

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Activation of stress kinases in the brain of mucopolysaccharidosis IIIB mice

Journal of neuroscience research, 2011-09, Vol.89 (9), p.1431-1438

2011

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Serum MIP-1 [alpha] level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

Journal of inherited metabolic disease, 2010-03, Vol.33 (2), p.159

2010

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Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure

Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

Mucopolysaccharidosis IIIB: Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB

Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated

Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector

Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector

Autobiografia e didattica: L'identità riflessiva nei percorsi educativi

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

Serum MIP-1 α level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

Activation of stress kinases in the brain of mucopolysaccharidosis IIIB mice

Serum MIP-1 [alpha] level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

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