List of works - Ferdinando Squitieri

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

scientific article published on 12 April 2012

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

scientific article

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

scientific article published on 4 September 2003

Abnormal morphology of peripheral cell tissues from patients with Huntington disease

scientific article

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

scientific article published in July 2015

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

scientific article published on 8 April 2009

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

scientific article published on 01 January 2019

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

scientific article (publication date: September 2002)

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

scientific article published in February 2006

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

scientific article

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

scientific article

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

scientific article published on 03 January 2019

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

scientific article

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

scientific article published on 2 March 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

scientific article

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

scientific article

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

scientific article

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.

scientific article

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

scientific article

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

scientific article published on 01 October 2003

DNA instability in replicating Huntington's disease lymphoblasts

scientific article

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

scientific article published on 2 February 2009

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

scientific article published on 6 August 2007

Deep white matter in Huntington's disease

scientific article

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

Deletions in CCM2 are a common cause of cerebral cavernous malformations

scientific article

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.

scientific article published in January 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

scientific article published in January 2009

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

scientific article published on March 2011

Early enteric neuron dysfunction in mouse and human Huntington disease

scientific article published in November 2016

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

scientific article

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

scientific article published on 14 July 2015

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

scientific article published in July 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.

scientific article published on 2 December 2013

Factor analysis of behavioural symptoms in Huntington's disease.

scientific article published on 14 April 2010

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

scientific article published on 21 July 2012

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

scientific article published on 9 January 2018

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

scientific article published on 21 February 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

scientific article

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

scientific article published on 26 April 2011

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

scientific article published on August 2006

Highly disabling cerebellar presentation in Huntington disease.

scientific article published in July 2003

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

scientific article

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

scientific article

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

scientific article published on 23 July 2015

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

scientific article published on 10 November 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?

scientific article published on 6 December 2008

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

scientific article published on 24 September 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

scientific article published on 31 July 2020

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

scientific article published on 26 May 2006

Italian Huntington disease patients--data and tissue bank.

scientific article

Juvenile Huntington disease in Argentina

scientific article published on 24 November 2015

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

scientific article

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

scientific article published in June 2010

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

scientific article published in January 2017

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

scientific article published on 01 February 2002

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 15 October 2013

Major Superficial White Matter Abnormalities in Huntington's Disease

scientific article published on 23 May 2016

Managing juvenile Huntington's disease

scientific article published on June 2013

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

scientific article published in October 1993

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

scientific article published in October 1993

Molecular medicine: predicting and preventing Huntington's disease.

scientific article published on 20 September 2008

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

scientific article published on 5 January 2012

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

scientific article published on 01 October 2001

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

scientific article

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

scientific article

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

scientific article published on 25 June 2013

Neuroprotective effects of riluzole in Huntington's disease.

scientific article

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

scientific article

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

scientific article

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

scientific article published in January 2009

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

scientific article

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

scientific article published on 27 February 2013

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

scientific article

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

scientific article published on 21 August 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

scientific article

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

scientific article published on 11 July 2017

Polyglutamine tracts regulate beclin 1-dependent autophagy

scientific article published on 26 April 2017

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

scientific article published in July 1994

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

scientific article

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

scientific article published in December 2003

Presymptomatic tests in Huntington's disease and dominant ataxias.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 28 October 2015

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

scientific article published on 21 March 2014

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

scientific article

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

scientific article published on 2 May 2017

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

scientific article published on 11 March 2009

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

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

scientific article

Seeking brain biomarkers for preventive therapy in Huntington disease.

scientific article

Severe ultrastructural mitochondrial changes in lymphoblasts homozygous for Huntington disease mutation

scientific article published on 9 November 2005

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

scientific article published in February 1995

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

scientific article

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

scientific article

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

scientific article published on 05 September 2018

Terapeutic Potential of Microencapsulated Sertoli Cells in Huntington Disease

scientific article published on 26 May 2016

The Corticospinal Tract in Huntington's Disease.

scientific article published on 4 April 2014

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

scientific article published on 2 September 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

scientific article published on 5 January 2018

The gender effect in juvenile Huntington disease patients of Italian origin

scientific article published in February 2004

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

scientific article

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

scientific article published on 20 February 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.

scientific article published on 10 October 2005

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

scientific article

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

scientific article published on 21 August 2014

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

scientific article published on 14 July 2020

Tractography of the corpus callosum in Huntington's disease

scientific article

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

scientific article

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

scientific article published in July 2012

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

scientific article

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

scientific article published on 22 March 2011

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

scientific article

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

scientific article published in 2022

List of works by 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