Lorenzo Nanetti
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View article: Thalamus and consciousness: a systematic review on thalamic nuclei associated with consciousness
Thalamus and consciousness: a systematic review on thalamic nuclei associated with consciousness Open
Introduction Consciousness relies on both cortical and subcortical structures and their feedforward and feedback pathways. Within this framework, the thalamus represents a relay station enabling the transmission, reception, and integration…
View article: Neuromagnetic responses to multimodal stimuli in Friedreich’s ataxia
Neuromagnetic responses to multimodal stimuli in Friedreich’s ataxia Open
In FA the study of evoked visual fields could provide a possible biomarker of disease progression and treatment efficacy.
View article: The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from <scp>ENIGMA</scp>‐Ataxia
The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from <span>ENIGMA</span>‐Ataxia Open
Background Spinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterized by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal c…
View article: Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the <scp>EFACTS</scp> natural history study
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the <span>EFACTS</span> natural history study Open
Background Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolutio…
View article: Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension
Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension Open
View article: Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders Open
View article: The Pattern and Staging of Brain Atrophy in Spinocerebellar Ataxia Type 2 (SCA2): MRI Volumetrics from ENIGMA-Ataxia
The Pattern and Staging of Brain Atrophy in Spinocerebellar Ataxia Type 2 (SCA2): MRI Volumetrics from ENIGMA-Ataxia Open
Objective Spinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterised by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal co…
View article: Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2
Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2 Open
Purpose Spinocerebellar ataxia SCA1 and SCA2 are adult-onset hereditary disorders, due to triplet CAG expansion in their respective causative genes. The pathophysiology of SCA1 and SCA2 suggests alterations of cerebello-thalamo-cortical pa…
View article: A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies Open
Background MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the last step of oxidative phosphorylation to produce cellula…
View article: Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity
Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity Open
Quantitative measurement of physical activity may complement neurological evaluation and provide valuable information on patients’ daily life. We evaluated longitudinal changes of physical activity in patients with Friedreich ataxia (FRDA)…
View article: Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study Open
Background Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morph…
View article: Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia Open
Background Little is known about the progression of health-related quality of life (HRQoL) and predicting factors in spinocerebellar ataxia (SCA). Such knowledge is crucial to identify modifiable factors promoting everyday life with SCA an…
View article: Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study Open
Background Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause premature death. Objectives To investigate predictors of survival in FA. Methods Within a prospective registry established by the European Friedreich's At…
View article: Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND) Open
View article: Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L Open
View article: Longitudinal changes of <scp>SARA</scp> scale in Friedreich ataxia: Strong influence of baseline score and age at onset
Longitudinal changes of <span>SARA</span> scale in Friedreich ataxia: Strong influence of baseline score and age at onset Open
Background The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA). Methods To as…
View article: Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers
Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers Open
View article: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias Open
Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype co…
View article: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers
MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers Open
With many viable strategies in the therapeutic pipeline, upcoming clinical trials in hereditary and sporadic degenerative ataxias will benefit from non-invasive MRI biomarkers for patient stratification and the evaluation of therapies. The…
View article: A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies. Open
Background : The MT-ATP6 gene is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase. The latter corresponds to mitochondrial complex V, which intervenes in the last step of oxidative…
View article: SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias Open
With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a…
View article: Datset related to article "COMORBIDITIES IN FRIEDREICH ATAXIA: INCIDENCE AND MANIFESTATIONS FROM EARLY TO ADVANCED DISEASE STAGES"
Datset related to article "COMORBIDITIES IN FRIEDREICH ATAXIA: INCIDENCE AND MANIFESTATIONS FROM EARLY TO ADVANCED DISEASE STAGES" Open
description of comorbidities in a large cohort of patient affected by friedreich ataxia
View article: DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature"
DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature" Open
Description of clinical and genetic data of eight PNPLA6 patients diagnosed at Besta Institute and summary of the literature previuos data for patients with the same disease.
View article: DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature"
DATASET RELATED TO ARTICLE: "Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature" Open
Description of clinical and genetic data of eight PNPLA6 patients diagnosed at Besta Institute and summary of the literature previuos data for patients with the same disease.
View article: Datset related to article "COMORBIDITIES IN FRIEDREICH ATAXIA: INCIDENCE AND MANIFESTATIONS FROM EARLY TO ADVANCED DISEASE STAGES"
Datset related to article "COMORBIDITIES IN FRIEDREICH ATAXIA: INCIDENCE AND MANIFESTATIONS FROM EARLY TO ADVANCED DISEASE STAGES" Open
description of comorbidities in a large cohort of patient affected by friedreich ataxia
View article: Complex Ataxia‐Dementia Phenotype in Patients with Digenic <i>TBP/STUB1</i> Spinocerebellar Ataxia
Complex Ataxia‐Dementia Phenotype in Patients with Digenic <i>TBP/STUB1</i> Spinocerebellar Ataxia Open
Background and Objectives Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. We recently identified a form of SCA transmitted with a digenic pattern of inheritance caused by t…
View article: Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene
Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene Open
View article: Prediction of the disease course in Friedreich ataxia
Prediction of the disease course in Friedreich ataxia Open
View article: Dataset related to article "Significance and clinical suggestions for the Somatosensory Evoked Potentials increased in amplitude revealed by a large sample of neurological patients"
Dataset related to article "Significance and clinical suggestions for the Somatosensory Evoked Potentials increased in amplitude revealed by a large sample of neurological patients" Open
THIS DATABASE CONTAINS ALL THE NEUROPHYSIOLOGICAL DATA (INCLUDING THE MEASUREMENT OF THE FINDINGS) AND THE DIAGNOSIS OF INDIVIDUAL PATIENTS. THESE VALUES WERE USED FOR THE STATISTICS
View article: Dataset related to article "Significance and clinical suggestions for the Somatosensory Evoked Potentials increased in amplitude revealed by a large sample of neurological patients"
Dataset related to article "Significance and clinical suggestions for the Somatosensory Evoked Potentials increased in amplitude revealed by a large sample of neurological patients" Open
THIS DATABASE CONTAINS ALL THE NEUROPHYSIOLOGICAL DATA (INCLUDING THE MEASUREMENT OF THE FINDINGS) AND THE DIAGNOSIS OF INDIVIDUAL PATIENTS. THESE VALUES WERE USED FOR THE STATISTICS