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Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Frontiers in neurology, 2023-12, Vol.14, p.1296924-1296924

2023

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Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants

Frontiers in genetics, 2021-07, Vol.12, p.682050-682050

2021

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Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Frontiers in neurology, 2018-07, Vol.9, p.536

2018

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MeCP2 dependent heterochromatin reorganization during neural differentiation of a novel Mecp2-deficient embryonic stem cell reporter line

PloS one, 2012-10, Vol.7 (10), p.e47848

2012

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A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

Journal of molecular neuroscience, 2016-07, Vol.59 (3), p.376-381

2016

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Genome Properties of the Diatom Phaeodactylum tricornutum

Plant physiology (Bethesda), 2002-07, Vol.129 (3), p.993-1002

2002

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Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

Parkinson's disease, 2018-01, Vol.2018 (2018), p.1-6

2018

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Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease”

Parkinson's disease, 2018, Vol.2018 (2018), p.1-1

2018

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Wide gene expression profiling of ischemia‐reperfusion injury in human liver transplantation

Liver transplantation, 2007-01, Vol.13 (1), p.99-113

2007

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Bridging a Patient with Acute Liver Failure to Liver Transplantation by the AMC-Bioartificial Liver

Cell transplantation, 2003-09, Vol.12 (6), p.563-568

2003

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Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Clinical genetics, 2022-08, Vol.102 (2), p.155-156

2022

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Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report

International journal of neuroscience, 2017-12, Vol.127 (12), p.1150-1153

2017

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PEG-PLGA electrospun nanofibrous membranes loaded with Au@Fe2O3 nanoparticles for drug delivery applications

Frontiers of physics, 2018-02, Vol.13 (1), p.65-73, Article 136201

2018

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Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)

Archives italiennes de biologie, 2017-12 (4), p.275-278

2017

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Short history of the “Genomic Revolution” and implication for neurological institutes

La rivista italiana della medicina di laboratorio, 2015-03, Vol.11 (1), p.1-13

2015

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Single Nucleotide Polymorphisms of Tissue Inhibitors of Metalloproteinase Genes in Familial Moyamoya Disease

Neurosurgery, 2008-06, Vol.62 (6), p.E1384

2008

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Single nucleotide polymorphisms of tissue inhibitors of metalloproteinase genes in familial moyamoya disease

Neurosurgery, 2008-06, Vol.62 (6), p.E1384; author reply E1384-E1384

2008

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Bridging a Patient with Acute Liver Failure to Liver Transplantation by the AMC-Bioartificial Liver

Cell transplantation, 2003-09, Vol.12 (6), p.563

2003

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No evidence of in vitro and in vivo porcine endogenous retrovirus infection after plasmapheresis through the AMC-bioartificial liver

Xenotransplantation (Københaven), 2005-07, Vol.12 (4), p.286-292

2005

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Gene Expression Profile in Liver Transplantation and the Influence of Gene Dysregulation Occurring in Deceased Donor Grafts

The open surgery journal, 2011-02, Vol.5 (1), p.1-11

Conti, Anna

2011

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Genome properirs of the diatom Phaeodactylum tricornutum

Plant physiology (Bethesda), 2002-07, Vol.129 (3), p.993

2002

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Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Frontiers in neurology, 2018, Vol.9, p.536-536

2018

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Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report

International Journal of Neuroscience, 2017, Vol.127 (12), p.1150-1153

2017

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Sex-related alterations of gut microbiota composition in the BTBR mouse model of autism spectrum disorder

Scientific reports, 2017-03, Vol.7 (1), p.45356-45356, Article 45356

2017

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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

The Journal of experimental medicine, 2019-12, Vol.216 (12), p.2778-2799

2019

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Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

MeCP2 dependent heterochromatin reorganization during neural differentiation of a novel Mecp2-deficient embryonic stem cell reporter line

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

Genome Properties of the Diatom Phaeodactylum tricornutum

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease”

Wide gene expression profiling of ischemia‐reperfusion injury in human liver transplantation

Bridging a Patient with Acute Liver Failure to Liver Transplantation by the AMC-Bioartificial Liver

Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report

PEG-PLGA electrospun nanofibrous membranes loaded with Au@Fe2O3 nanoparticles for drug delivery applications

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)

Short history of the “Genomic Revolution” and implication for neurological institutes

Single Nucleotide Polymorphisms of Tissue Inhibitors of Metalloproteinase Genes in Familial Moyamoya Disease

Single nucleotide polymorphisms of tissue inhibitors of metalloproteinase genes in familial moyamoya disease

Bridging a Patient with Acute Liver Failure to Liver Transplantation by the AMC-Bioartificial Liver

No evidence of in vitro and in vivo porcine endogenous retrovirus infection after plasmapheresis through the AMC-bioartificial liver

Gene Expression Profile in Liver Transplantation and the Influence of Gene Dysregulation Occurring in Deceased Donor Grafts

Genome properirs of the diatom Phaeodactylum tricornutum

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report

Sex-related alterations of gut microbiota composition in the BTBR mouse model of autism spectrum disorder

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

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