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Effectiveness of Early Pelvic Floor Rehabilitation Treatment for Post-Prostatectomy Incontinence

European urology, 2005-11, Vol.48 (5), p.734-738

2005

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Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I

Nanoscale, 2018-01, Vol.10 (2), p.657-665

2018

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

Human mutation, 2006-10, Vol.27 (10), p.999-1006

2006

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Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

Clinical genetics, 2011-11, Vol.80 (5), p.452-458

2011

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Renal Cell Carcinoma of Native Kidney After Renal Transplantation: Clinical Relevance of Early Detection

Transplantation proceedings, 2009-12, Vol.41 (10), p.4197-4201

2009

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The Treatment of Fistulae and Ureteral Stenosis After Kidney Transplantation

Transplantation proceedings, 2005-07, Vol.37 (6), p.2516-2517

2005

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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

Journal of neurology, 2009-11, Vol.256 (11), p.1911-1915

2009

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

Human mutation, 2008-06, Vol.29 (6), p.E27-E36

2008

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An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.129-133

2008

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Mutation identification of Fabry disease in families with other lysosomal storage disorders

Clinical genetics, 2013-09, Vol.84 (3), p.281-285

2013

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GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

Clinical genetics, 2007-11, Vol.72 (5), p.427-433

2007

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Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease

Neuropediatrics, 2009-12, Vol.40 (6), p.291-294

2009

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

Nature genetics, 2005-10, Vol.37 (10), p.1038-1040

2005

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Efficacy and Safety of Palmaz Stent Implantation in the Treatment of Renal Artery Stenosis in Renal Transplantation

Transplantation proceedings, 2005-03, Vol.37 (2), p.1047-1048

2005

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The Approach by Midline Incision for Extraperitoneal Kidney Transplantation

Transplantation proceedings, 2007-12, Vol.39 (10), p.3077-3080

2007

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Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

Clinical genetics, 2011-09, Vol.80 (3), p.273-280

2011

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Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

Neurology, 2004-01, Vol.62 (1), p.13-16

2004

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Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

Clinical genetics, 2008-03, Vol.73 (3), p.279-287

2008

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Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

Cell death & disease, 2018-06, Vol.9 (6), p.698-15, Article 698

2018

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Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL

Human mutation, 2006-06, Vol.27 (6), p.600-601

2006

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Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders

Neuropediatrics, 2005-08, Vol.36 (4), p.265

2005

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

Human mutation, 2002-09, Vol.20 (3), p.231-231

2002

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ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease

Human molecular genetics, 2013-04, Vol.22 (7), p.1316-1327

2013

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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, 2004-08, Vol.24 (2), p.186-187

2004

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The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1116-1123

2015

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Effectiveness of Early Pelvic Floor Rehabilitation Treatment for Post-Prostatectomy Incontinence

Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I

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

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

Renal Cell Carcinoma of Native Kidney After Renal Transplantation: Clinical Relevance of Early Detection

The Treatment of Fistulae and Ureteral Stenosis After Kidney Transplantation

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

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

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

Mutation identification of Fabry disease in families with other lysosomal storage disorders

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Efficacy and Safety of Palmaz Stent Implantation in the Treatment of Renal Artery Stenosis in Renal Transplantation

The Approach by Midline Incision for Extraperitoneal Kidney Transplantation

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders

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

ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease

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

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

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