List of works - Caterina Mariotti

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

scientific article published on 04 December 2018

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

scientific article

An overview of the patient with ataxia

scientific article

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

scientific article

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

Brain-derived neurotrophic factor in patients with Huntington's disease

scientific article

CADASIL: Treatment and Management Options.

scientific article

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

scientific article

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

scientific article published on August 2013

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

scientific article

Diagnosis and treatment of Friedreich ataxia: a European perspective

scientific article

Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial

scientific article published on 02 September 2014

Erythropoietin in Friedreich ataxia

scientific article

Frataxin gene point mutations in Italian Friedreich ataxia patients

scientific article published on 17 August 2007

Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population

scientific article published on 15 January 2020

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

scientific article published on 22 August 2019

Frontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker

scientific article

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

scientific article

Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

scientific article

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

scientific article published on 02 February 2010

Impaired temporal processing of tactile and proprioceptive stimuli in cerebellar degeneration

scientific article

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

scientific article published on June 1, 2013

Is the oxidant/antioxidant status altered in CADASIL patients?

scientific article

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

scientific article published on 14 May 2015

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

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

scientific article published on 17 June 2015

Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout

scientific article published on 27 November 2020

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

scientific article

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

scientific article

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

scientific article

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

scientific article

Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency ⬇️

scientific article published on February 28, 2013

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations ⬇️

scientific article published on January 1, 2002

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

scientific article

Pathogenic effect of an intermediate-size SCA-6 allele (CAG) 19 in a homozygous patient ⬇️

scientific article published on October 23, 2001

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

scientific article

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

scientific article published on 26 January 2012

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

scientific article published on December 2016

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

scientific article

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

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

scientific article

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

scientific article published on 14 August 2013

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

scientific article

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers

scientific article published in 2021

Spinocerebellar ataxia type 1.

scientific article published on January 2012

Spinocerebellar ataxia type 28

scientific article published on January 1, 2012

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

scientific article

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

scientific article published on 13 March 2018

The cerebellum and visual perceptual learning: evidence from a motion extrapolation task

scientific article published on 2 June 2014

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias ⬇️

scientific article published on June 1, 2001

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

scientific article

Visual system involvement in patients with Friedreich's ataxia

scientific article

List of works by Caterina Mariotti

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

An overview of the patient with ataxia

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

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

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Brain-derived neurotrophic factor in patients with Huntington's disease

CADASIL: Treatment and Management Options.

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

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

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Diagnosis and treatment of Friedreich ataxia: a European perspective

Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial

Erythropoietin in Friedreich ataxia

Frataxin gene point mutations in Italian Friedreich ataxia patients

Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

Frontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker

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

Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Impaired temporal processing of tactile and proprioceptive stimuli in cerebellar degeneration

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

Is the oxidant/antioxidant status altered in CADASIL patients?

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

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

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

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout

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

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency ⬇️

Novel (ovario) leukodystrophy related to AARS2 mutations

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations ⬇️

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

Pathogenic effect of an intermediate-size SCA-6 allele (CAG) 19 in a homozygous patient ⬇️

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

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

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

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

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

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

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers

Spinocerebellar ataxia type 1.

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

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

The cerebellum and visual perceptual learning: evidence from a motion extrapolation task

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias ⬇️

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

Visual system involvement in patients with Friedreich's ataxia