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List of works by Paola Giunti

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.

scientific article published on 26 May 2016

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

scientific article

A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7

scientific article published on 22 June 2016

A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

scientific article

A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes

scientific article

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

scientific article published on 23 May 2017

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description

scientific article published on October 2010

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

scientific article

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

scientific article

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

scientific article

Autosomal dominant pure cerebellar ataxia. Neurological and genetic study

scientific article published on December 1, 1992

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

scientific article

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease

scientific article published in June 2008

Clinical and genetic analysis of spinocerebellar ataxia type 11

scientific article published on 01 January 2008

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

scientific article published on August 2013

Clinical study of large kindreds with autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) of late onset

scientific article published on 01 January 1993

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.

scientific article published on January 2008

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

scientific article

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

scientific article

Cognitive and social cognitive functioning in spinocerebellar ataxia : a preliminary characterization.

scientific article published on 20 March 2008

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

scientific article published on 24 December 2015

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

scientific article published on 04 April 2016

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

Deciphering the impact of cerebellar and basal ganglia dysfunction in accuracy and variability of motor timing.

scientific article

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

scientific article published on 16 February 2016

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

scientific article published in June 2007

Depression comorbidity in spinocerebellar ataxia

scientific article

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth

scientific article published on 01 October 1995

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

scientific article published on 13 January 2014

ELOVL5 mutations cause spinocerebellar ataxia 38

scientific article

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

scientific article published on 24 February 2010

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.

scientific article

Erratum: Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7.

scientific article published on 23 November 2010

Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study

scientific article

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

scientific article published on 26 December 2017

Friedreich's ataxia: clinical features, pathogenesis and management

scientific article

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

scientific article

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

scientific article published on September 1996

Guidelines on the diagnosis and management of the progressive ataxias

scientific article published on 20 February 2019

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

scientific article published on 7 March 2013

Identification of telomere dysfunction in Friedreich ataxia

scientific article published on 10 June 2015

Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany

scientific article published on 28 February 2013

Inhibition of LRRK2 kinase activity stimulates macroautophagy

scientific journal article

Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument ⬇️

scientific article published on June 1, 2013

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

scientific article published on 11 September 2015

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

scientific article

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

scientific article

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

scientific article

Molecular pathogenesis of spinocerebellar ataxias.

scientific article

Movement disorders in spinocerebellar ataxias.

scientific article published on 02 March 2011

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala

scientific article

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

scientific article

Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.

scientific article

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models

scientific article published on 17 July 2018

Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone

scientific article published on 08 April 2019

Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials?

scientific article published on 01 June 2019

Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia

scientific article published on 30 October 2018

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

scientific article

Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6

article

Prospective analysis of falls in dominant ataxias.

scientific article

Quantifiable evaluation of cerebellar signs in children

scientific article published on 25 February 2015

Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.

scientific article published on January 2013

Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients

scientific article

SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia

scientific article published in August 2008

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

scientific article published on 17 February 2018

Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

scientific article

Sensorimotor processing for balance in spinocerebellar ataxia type 6

scientific article published on 16 April 2015

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

scientific article

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

scientific article published on 13 September 2013

Spinocerebellar ataxia type 11

scientific article published on January 1, 2012

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

scientific article published on 06 August 2008

Stance instability in spinocerebellar ataxia type 6

scientific article published on November 9, 2012

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

scientific article published on 13 March 2018

Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia

scientific article published on 2 July 2015

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.

scientific article published on 3 November 2012

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

scientific article

The frequency of spinocerebellar ataxia type 23 in a UK population.

scientific article published on 30 October 2012

The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci

article

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

scientific article

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia

scientific article published on 10 March 2020

The role of interruptions in polyQ in the pathology of SCA1.

scientific article

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

scientific article published in March 1998

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

scientific article published on 01 August 1994

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020

Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease.

scientific article published on 31 July 2014

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

scientific article published on 26 September 2017

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

scientific article published on 4 December 2017

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms

scientific article published on 23 January 2019

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