Lista de obras - Ferdinando Squitieri - Dominio Público Uruguay

18F-FDG PET uptake in the pre-Huntington disease caudate affects the time-to-onset independently of CAG expansion size

artículo científico publicado en 2012

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

artículo científico publicado en 2007

Aberrant A2A receptor function in peripheral blood cells in Huntington's disease

artículo científico publicado en 2003

Abnormal morphology of peripheral cell tissues from patients with Huntington disease

artículo científico publicado en 2009

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

article

Antidopaminergic Medication is Associated with More Rapidly Progressive Huntington's Disease

artículo científico publicado en 2015

Aripiprazole in the treatment of Huntington's disease: a case series

artículo científico publicado en 2009

Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington's Disease

artículo científico publicado en 2019

Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7

artículo científico publicado en 2002

Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease.

artículo científico publicado en 2006

CAG mutation effect on rate of progression in Huntington's disease.

artículo científico publicado en 2002

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

artículo científico publicado en 2012

CM-Pf deep brain stimulation and the long term management of motor and psychiatric symptoms in a case of Tourette syndrome

artículo científico publicado en 2019

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

artículo científico publicado en 2013

Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG(33) repeat length in the Huntington's disease gene

artículo científico publicado en 2011

Cavernous angiomas of the nervous system in Italy: clinical and genetic study

article

Changes of peripheral TGF-β1 depend on monocytes-derived macrophages in Huntington disease

artículo científico publicado en 2013

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

artículo científico publicado en 2012

Corrigendum to “Whole body cholesterol metabolism is impaired in Huntington's disease” [Neurosci. Lett. 494 (2011) 245–249]

scholarly article published in Neuroscience Letters

Current Pharmacological Management in Juvenile Huntington's Disease.

artículo científico publicado en 2012

DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor

artículo científico publicado en 2006

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

artículo científico publicado en 2003

DNA instability in replicating Huntington's disease lymphoblasts

artículo científico publicado en 2009

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

artículo científico publicado en 2009

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

artículo científico publicado en 2007

Deep white matter in Huntington's disease

artículo científico publicado en 2014

Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease ?

Deletions in CCM2 are a common cause of cerebral cavernous malformations

artículo científico publicado en 2007

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

article

Discriminant analysis of Beck Depression Inventory and Hamilton Rating Scale for Depression in Huntington's disease.

artículo científico publicado en 2011

Distinct brain volume changes correlating with clinical stage, disease progression rate, mutation size, and age at onset prediction as early biomarkers of brain atrophy in Huntington's disease

artículo científico publicado en 2009

Early defect of transforming growth factor β1 formation in Huntington's disease.

artículo científico publicado en 2011

Early enteric neuron dysfunction in mouse and human Huntington disease

artículo científico publicado en 2016

Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy.

artículo científico publicado en 2015

Ethyl-eicosapentaenoic acid treatment in Huntington's disease: A placebo-controlled clinical trial

artículo científico publicado en 2015

Executive functioning in relapsing-remitting multiple sclerosis patients without cognitive impairment: A task-switching protocol

artículo científico publicado en 2017

Exploring emotion regulation and emotion recognition in people with presymptomatic Huntington's disease: The role of emotional awareness

FTY720 (fingolimod) is a neuroprotective and disease-modifying agent in cellular and mouse models of Huntington disease.

artículo científico publicado en 2013

Factor analysis of behavioural symptoms in Huntington's disease.

artículo científico publicado en 2010

Further evidence of reliability and validity of the Huntington's disease quality of life battery for carers: Italian and French translations.

artículo científico publicado en 2012

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

artículo científico publicado en 2018

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.

artículo científico publicado en 2018

Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

artículo científico publicado en 2006

Genotype-, aging-dependent abnormal caspase activity in Huntington disease blood cells.

artículo científico publicado en 2011

Genotype-dependent priming to self- and xeno-cannibalism in heterozygous and homozygous lymphoblasts from patients with Huntington's disease

artículo científico publicado en 2006

Highly disabling cerebellar presentation in Huntington disease.

artículo científico publicado en 2003

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

artículo científico publicado en 2007

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

artículo científico publicado en 2003

Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-specific Silencing in Huntington Disease Patients of European Ancestry.

artículo científico publicado en 2015

Huntingtin fragmentation and increased caspase 3, 8 and 9 activities in lymphoblasts with heterozygous and homozygous Huntington's disease mutation

artículo científico publicado en 2005

Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?

artículo científico publicado en 2008

Huntington's disease: how intermediate are intermediate repeat lengths?

artículo científico publicado en 2012

Impaired PGC-1alpha function in muscle in Huntington's disease.

scientific article published on 21 May 2009

Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post-HTT service-based study

artículo científico publicado en 2020

Increased apoptosis, Huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects

artículo científico publicado en 2006

Italian Huntington disease patients--data and tissue bank.

artículo científico publicado en 2003

Juvenile Huntington disease in Argentina

artículo científico publicado en 2015

Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?

artículo científico publicado en 2005

Key role of nuclear medicine in seeking biomarkers of Huntington's disease.

artículo científico publicado en 2010

Letter re: Huntington disease reduced penetrance alleles occur at high frequency in the general population

artículo científico publicado en 2017

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

artículo científico publicado en 2002

Loss of normal huntingtin function: new developments in Huntington's disease research

artículo científico publicado en 2001

Low brain-derived neurotrophic factor (BDNF) levels in serum of Huntington's disease patients.

artículo científico publicado en 2007

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

artículo científico publicado en 2006

MRI measures of corpus callosum iron and myelin in early Huntington's disease.

artículo científico publicado en 2013

Major Superficial White Matter Abnormalities in Huntington's Disease

artículo científico publicado en 2016

Managing juvenile Huntington's disease

artículo científico publicado en 2013

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

artículo científico publicado en 1993

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

artículo científico publicado en 1993

Molecular medicine: predicting and preventing Huntington's disease.

artículo científico publicado en 2008

Multimodal MRI analysis of the corpus callosum reveals white matter differences in presymptomatic and early Huntington's disease.

artículo científico publicado en 2012

Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease

artículo científico publicado en 2001

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

artículo científico publicado en 2003

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

artículo científico publicado en 2003

Neurodegenerative disease: 'fifty shades of grey' in the Huntington disease gene

artículo científico publicado en 2013

Neuroprotective effects of riluzole in Huntington's disease.

artículo científico publicado en 2007

New Huntington disease mutation arising from a paternal CAG34 allele showing somatic length variation in serially passaged lymphoblasts

artículo científico publicado en 2005

Nitric oxide dysregulation in platelets from patients with advanced Huntington disease.

artículo científico publicado en 2014

Novel T719P AbetaPP mutation unbalances the relative proportion of amyloid-beta peptides.

artículo científico publicado en 2009

Novel parkin mutations detected in patients with early-onset Parkinson's disease

artículo científico publicado en 2005

One-year safety and tolerability profile of pridopidine in patients with Huntington disease

artículo científico publicado en 2013

Onset and pre-onset studies to define the Huntington's disease natural history.

artículo científico publicado en 2001

Optical coherence tomography (OCT) study in Argentinean Huntington's disease patients

artículo científico publicado en 2018

PET translates neurophysiology into images: A review to stimulate a network between neuroimaging and basic research

scientific article published on April 2011

Phosphorylation of huntingtin at residue T3 is decreased in Huntington's disease and modulates mutant huntingtin protein conformation

artículo científico publicado en 2017

Polyglutamine expansion affects huntingtin conformation in multiple Huntington's disease models

artículo científico publicado en 2017

Polyglutamine tracts regulate beclin 1-dependent autophagy

artículo científico publicado en 2017

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.

artículo científico publicado en 1994

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

artículo científico publicado en 2012

Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene.

artículo científico publicado en 2003

Presymptomatic tests in Huntington's disease and dominant ataxias.

artículo científico publicado en 2001

Pridopidine for the treatment of motor function in patients with Huntington's disease (MermaiHD): a phase 3, randomised, double-blind, placebo-controlled trial

artículo científico publicado en 2011

Pridopidine, a dopamine stabilizer, improves motor performance and shows neuroprotective effects in Huntington disease R6/2 mouse model

artículo científico publicado en 2015

Profile of pridopidine and its potential in the treatment of Huntington disease: the evidence to date

artículo científico publicado en 2015

Psychiatric onset and late chorea in a patient with 41 CAG repeats in the TATA-binding protein gene.

artículo científico publicado en 2014

Reduced activity of cortico-striatal fibres in the R6/2 mouse model of Huntington's disease.

artículo científico publicado en 2007

Resting-state connectivity and modulated somatomotor and default-mode networks in Huntington disease

artículo científico publicado en 2017

Riluzole protects Huntington disease patients from brain glucose hypometabolism and grey matter volume loss and increases production of neurotrophins.

artículo científico publicado en 2009

Safer Attitude to Risky Decision-Making in Premanifest Huntington's Disease Subjects

Seeking Huntington disease biomarkers by multimodal, cross-sectional basal ganglia imaging.

artículo científico publicado en 2012

Seeking brain biomarkers for preventive therapy in Huntington disease.

artículo científico publicado en 2010

Severe ultrastructural mitochondrial changes in lymphoblasts homozygous for Huntington disease mutation

artículo científico publicado en 2005

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

artículo científico publicado en 1995

Structural MRI in Huntington's disease and recommendations for its potential use in clinical trials

artículo científico publicado en 2013

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

artículo científico publicado en 2012

Task-switching abilities in pre-manifest Huntington's disease subjects

artículo científico publicado en 2018

Terapeutic Potential of Microencapsulated Sertoli Cells in Huntington Disease

artículo científico publicado en 2016

The Corticospinal Tract in Huntington's Disease.

artículo científico publicado en 2014

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

artículo científico publicado en 2003

The contribution of gender differences in motor, behavioral and cognitive features to functional capacity, independence and quality of life in patients with Huntington's disease

artículo científico publicado en 2018

The gender effect in juvenile Huntington disease patients of Italian origin

artículo científico publicado en 2004

The influence of gender on phenotype and disease progression in patients with Huntington's disease

artículo científico publicado en 2012

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

artículo científico publicado en 2018

The personal experience of parenting a child with juvenile Huntington's disease: perceptions across Europe

scientific article published on 27 February 2013

The platelet maximum number of A2A-receptor binding sites (Bmax) linearly correlates with age at onset and CAG repeat expansion in Huntington's disease patients with predominant chorea.

artículo científico publicado en 2005

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

artículo científico publicado en 1993

The role of iron in gray matter degeneration in Huntington's disease: a magnetic resonance imaging study.

artículo científico publicado en 2014

Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East

artículo científico publicado en 2020

Tractography of the corpus callosum in Huntington's disease

artículo científico publicado en 2013

Truncated peroxisome proliferator-activated receptor-γ coactivator 1α splice variant is severely altered in Huntington's disease

artículo científico publicado en 2011

Validation of the first quality-of-life measurement for patients with Huntington's disease: the Huntington Quality of Life Instrument

artículo científico publicado en 2012

What is the impact of education on Huntington's disease?

artículo científico publicado en 2011

Whole body cholesterol metabolism is impaired in Huntington's disease.

artículo científico publicado en 2011

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

artículo científico publicado en 2008

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

artículo científico publicado en 2022

Lista de obras de Ferdinando Squitieri

18F-FDG PET uptake in the pre-Huntington disease caudate affects the time-to-onset independently of CAG expansion size

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

Aberrant A2A receptor function in peripheral blood cells in Huntington's disease

Abnormal morphology of peripheral cell tissues from patients with Huntington disease

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

Antidopaminergic Medication is Associated with More Rapidly Progressive Huntington's Disease

Aripiprazole in the treatment of Huntington's disease: a case series

Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington's Disease

Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7

Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease.

CAG mutation effect on rate of progression in Huntington's disease.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

CM-Pf deep brain stimulation and the long term management of motor and psychiatric symptoms in a case of Tourette syndrome

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG(33) repeat length in the Huntington's disease gene

Cavernous angiomas of the nervous system in Italy: clinical and genetic study

Changes of peripheral TGF-β1 depend on monocytes-derived macrophages in Huntington disease

Clinical and genetic characteristics of late-onset Huntington's disease

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

Corrigendum to “Whole body cholesterol metabolism is impaired in Huntington's disease” [Neurosci. Lett. 494 (2011) 245–249]

Current Pharmacological Management in Juvenile Huntington's Disease.

DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

DNA instability in replicating Huntington's disease lymphoblasts

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.

Deep white matter in Huntington's disease

Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease ?

Deletions in CCM2 are a common cause of cerebral cavernous malformations

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

Discriminant analysis of Beck Depression Inventory and Hamilton Rating Scale for Depression in Huntington's disease.

Distinct brain volume changes correlating with clinical stage, disease progression rate, mutation size, and age at onset prediction as early biomarkers of brain atrophy in Huntington's disease

Early defect of transforming growth factor β1 formation in Huntington's disease.

Early enteric neuron dysfunction in mouse and human Huntington disease

Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy.

Ethyl-eicosapentaenoic acid treatment in Huntington's disease: A placebo-controlled clinical trial

Executive functioning in relapsing-remitting multiple sclerosis patients without cognitive impairment: A task-switching protocol

Exploring emotion regulation and emotion recognition in people with presymptomatic Huntington's disease: The role of emotional awareness

FTY720 (fingolimod) is a neuroprotective and disease-modifying agent in cellular and mouse models of Huntington disease.

Factor analysis of behavioural symptoms in Huntington's disease.

Further evidence of reliability and validity of the Huntington's disease quality of life battery for carers: Italian and French translations.

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.

Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

Genotype-, aging-dependent abnormal caspase activity in Huntington disease blood cells.

Genotype-dependent priming to self- and xeno-cannibalism in heterozygous and homozygous lymphoblasts from patients with Huntington's disease

Highly disabling cerebellar presentation in Huntington disease.

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-specific Silencing in Huntington Disease Patients of European Ancestry.

Huntingtin fragmentation and increased caspase 3, 8 and 9 activities in lymphoblasts with heterozygous and homozygous Huntington's disease mutation

Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?

Huntington's disease: how intermediate are intermediate repeat lengths?

Impaired PGC-1alpha function in muscle in Huntington's disease.

Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post-HTT service-based study

Increased apoptosis, Huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects

Italian Huntington disease patients--data and tissue bank.

Juvenile Huntington disease in Argentina

Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?

Key role of nuclear medicine in seeking biomarkers of Huntington's disease.

Letter re: Huntington disease reduced penetrance alleles occur at high frequency in the general population

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

Loss of normal huntingtin function: new developments in Huntington's disease research

Low brain-derived neurotrophic factor (BDNF) levels in serum of Huntington's disease patients.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

MRI measures of corpus callosum iron and myelin in early Huntington's disease.

Major Superficial White Matter Abnormalities in Huntington's Disease

Managing juvenile Huntington's disease

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

Molecular medicine: predicting and preventing Huntington's disease.

Multimodal MRI analysis of the corpus callosum reveals white matter differences in presymptomatic and early Huntington's disease.

Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Neurodegenerative disease: 'fifty shades of grey' in the Huntington disease gene

Neuroprotective effects of riluzole in Huntington's disease.

New Huntington disease mutation arising from a paternal CAG34 allele showing somatic length variation in serially passaged lymphoblasts