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Development and validation of a quantitative confirmatory method for 30 β-lactam antibiotics in bovine muscle using liquid chromatography coupled to tandem mass spectrometry

Journal of Chromatography A, 2017-06, Vol.1500, p.121-135

2017

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Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation

Clinical genetics, 2018-03, Vol.93 (3), p.671-674

2018

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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.203-208

2018

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ADAR2-editing activity inhibits glioblastoma growth through the modulation of the CDC14B/Skp2/p21/p27 axis

Oncogene, 2013-02, Vol.32 (8), p.998-1009

2013

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Sentinel lymph node biopsy in gastric cancer: Possible applications and limits

European journal of surgical oncology, 2011-01, Vol.37 (1), p.55-59

2011

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Mutations in Cytokine Receptor-Like Factor 1 ( CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

American journal of human genetics, 2007-05, Vol.80 (5), p.966-970

2007

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Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family

Journal of medical genetics, 2006-12, Vol.43 (12), p.e58-e58

2006

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Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2

Clinical genetics, 2005-03, Vol.67 (3), p.261-266

2005

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Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11

Neuropediatrics, 2010-02, Vol.41 (1), p.35

2010

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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of neurology, 2015-01, Vol.262 (1), p.154-164

2015

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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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The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

American journal of neuroradiology : AJNR, 2012-12, Vol.33 (11), p.2062-2067

2012

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Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Journal of the neurological sciences, 2019-04, Vol.399, p.69-75

2019

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Robotic Ubiquitous Cognitive Ecology for Smart Homes

Journal of intelligent & robotic systems, 2015-12, Vol.80 (Suppl 1), p.57-81

2015

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De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2

American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.894-896

2013

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Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

Human mutation, 2004-07, Vol.24 (1), p.105-105

2004

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Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

Clinical endocrinology (Oxford), 2005-07, Vol.63 (1), p.19-25

2005

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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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Differential diagnosis and management of focal ground-glass opacities

The European respiratory journal, 2009-04, Vol.33 (4), p.821-827

2009

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Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

Journal of bone and mineral research, 2006-07, Vol.21 (7), p.1098-1105

2006

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MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis

American journal of neuroradiology : AJNR, 2009-08, Vol.30 (7), p.1325-1327

2009

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Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1162-1164

2005

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Phenotypic expression and genotype analysis of eleven patients with cholesteryl ester storage disease and identification of a novel lipa gene variant

Nutrition, metabolism, and cardiovascular diseases, 2017-01, Vol.27 (1), p.e32-e32

2017

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Neonatal lupus and a seronegative mother

The Lancet (British edition), 2004-03, Vol.363 (9414), p.1038-1038

2004

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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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Development and validation of a quantitative confirmatory method for 30 β-lactam antibiotics in bovine muscle using liquid chromatography coupled to tandem mass spectrometry

Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

ADAR2-editing activity inhibits glioblastoma growth through the modulation of the CDC14B/Skp2/p21/p27 axis

Sentinel lymph node biopsy in gastric cancer: Possible applications and limits

Mutations in Cytokine Receptor-Like Factor 1 ( CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2

Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

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

The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Robotic Ubiquitous Cognitive Ecology for Smart Homes

De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2

Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

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

Differential diagnosis and management of focal ground-glass opacities

Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis

Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

Phenotypic expression and genotype analysis of eleven patients with cholesteryl ester storage disease and identification of a novel lipa gene variant

Neonatal lupus and a seronegative mother

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

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