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View article: Case Report: Acute onset hemiparesis in a young man: do not miss Crohn’s disease
Case Report: Acute onset hemiparesis in a young man: do not miss Crohn’s disease Open
Crohn’s disease (CD) is a chronic inflammatory bowel disease that may include neurological complications, besides gastrointestinal manifestations. Although cerebrovascular complications are commonly reported, cerebral vasculitis remains an…
View article: Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy
Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy Open
The identification of small pathogenic variants in patients with SMA is of paramount importance for enhancing diagnosis and prognosis, deciphering response variations to existing treatments, and designing novel therapies tailored to addres…
View article: High Prevalence of<i>SOD1</i>Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS
High Prevalence of<i>SOD1</i>Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS Open
SOD1 is the second most mutated gene in European amyotrophic lateral sclerosis (ALS) patients, after C9orf72 expansion. Given the recent authorisation of SOD1-directed antisense oligonucleotide for use in SOD1-ALS patients, prompt screenin…
View article: Exploring the relationship between dystonia and STN-DBS in Parkinson’s disease: insights from a single-centre cohort
Exploring the relationship between dystonia and STN-DBS in Parkinson’s disease: insights from a single-centre cohort Open
View article: Unveiling amyotrophic lateral sclerosis complexity: insights from proteomics, metabolomics, and microbiomics
Unveiling amyotrophic lateral sclerosis complexity: insights from proteomics, metabolomics, and microbiomics Open
Amyotrophic lateral sclerosis is the most common motor neuron disease and manifests as a clinically and genetically heterogeneous neurodegenerative disorder mainly affecting the motor systems. To date, despite promising results and accumul…
View article: Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits Open
Background/Objectives: Short tandem repeat expansions are the most common cause of inherited neurological diseases. These disorders are clinically and genetically heterogeneous, such as in myotonic dystrophy and spinocerebellar ataxia, and…
View article: Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease Open
Background Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although increasingly recognised, there is evidence that Alexander disease, …
View article: Increased frequency of repeat expansion mutations across different populations
Increased frequency of repeat expansion mutations across different populations Open
Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs a…
View article: Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS Open
View article: Unleashing the potential of mRNA therapeutics for inherited neurological diseases
Unleashing the potential of mRNA therapeutics for inherited neurological diseases Open
Neurological monogenic loss-of-function diseases are hereditary disorders resulting from gene mutations that decrease or abolish the normal function of the encoded protein. These conditions pose significant therapeutic challenges, which ma…
View article: Early spinal muscular atrophy treatment following newborn screening: A <scp>20‐month</scp> review of the first Italian regional experience
Early spinal muscular atrophy treatment following newborn screening: A <span>20‐month</span> review of the first Italian regional experience Open
Objectives Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage. Methods DNA samp…
View article: Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4
Adaptive Long‐Read Sequencing Reveals <span>GGC</span> Repeat Expansion in <span><i>ZFHX3</i></span> Associated with Spinocerebellar Ataxia Type 4 Open
Background Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with invariable sensory neuropathy originally described in a family with Swedish ancestry residing in Utah more than 25 years ago. Despite tight linkage to the…
View article: Investigating the prevalence of <i>MFN2</i> mutations in amyotrophic lateral sclerosis: insights from an Italian cohort
Investigating the prevalence of <i>MFN2</i> mutations in amyotrophic lateral sclerosis: insights from an Italian cohort Open
The MFN2 gene encodes mitofusin 2, a key protein for mitochondrial fusion, transport, maintenance and cell communication. MFN2 mutations are primarily linked to Charcot–Marie–Tooth disease type 2A. However, a few cases of amyotrophic later…
View article: Genomic and transcriptomic advances in amyotrophic lateral sclerosis
Genomic and transcriptomic advances in amyotrophic lateral sclerosis Open
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and the most common motor neuron disease. ALS shows substantial clinical and molecular heterogeneity. In vitro and in vivo models coupled with multiomic techniques have pr…
View article: The impact of upper motor neuron involvement on clinical features, disease progression and prognosis in amyotrophic lateral sclerosis
The impact of upper motor neuron involvement on clinical features, disease progression and prognosis in amyotrophic lateral sclerosis Open
Objectives In amyotrophic lateral sclerosis (ALS) both upper (UMNs) and lower motor neurons (LMNs) are involved in the process of neurodegeneration, accounting for the great disease heterogeneity. We evaluated the associations of the burde…
View article: Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study Open
View article: Increased frequency of repeat expansion mutations across different populations
Increased frequency of repeat expansion mutations across different populations Open
Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs a…
View article: Population Frequency of Repeat Expansions Indicates Increased Disease Prevalence Estimates Across Different Populations
Population Frequency of Repeat Expansions Indicates Increased Disease Prevalence Estimates Across Different Populations Open
Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs a…
View article: Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study Open
Introduction SOD1 was the first gene associated with both familial and sporadic forms of amyotrophic lateral sclerosis (ALS) and is the second most mutated gene in Caucasian ALS patients. Given their high clinical and molecular heterogenei…
View article: A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in<i>AFF3</i>as a significant cause of intellectual disability
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in<i>AFF3</i>as a significant cause of intellectual disability Open
GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites and underlie several congenital and late-onset disorders. Through a combination of DNA methylation profili…
View article: Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation Open
Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations …
View article: Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples
Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples Open
Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations or deletions in SMN1 that lead to progressive death of alpha motor neurons, ultimately leading to severe muscle weakness and atrophy, as well as premature de…
View article: Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis
Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis Open
Increasing evidence shows that disease spreading in amyotrophic lateral sclerosis (ALS) follows a preferential pattern with more frequent involvement of contiguous regions from the site of symptom onset. The aim of our study was to assess …
View article: Correction to: Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis
Correction to: Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis Open
View article: NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients Open
Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in NOTCH2NLC has been recently reported in 0.7% of sporadic ALS patie…
View article: Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects
Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects Open
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and/or lower motor neurons and characterized by complex etiology. Familial cases show high genetic heterogeneity and sporadic cases (90%) are as…
View article: Analysis of <scp><i>HTT</i> CAG</scp> repeat expansion in Italian patients with amyotrophic lateral sclerosis
Analysis of <span><i>HTT</i> CAG</span> repeat expansion in Italian patients with amyotrophic lateral sclerosis Open
HTT full‐penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients (0.13%). We analyzed HTT CA…
View article: Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis
Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis Open
Introduction Even if electromyography (EMG) is routinely used to confirm the diagnosis of amyotrophic lateral sclerosis (ALS), few studies have analysed the correlation between electrophysiological parameters and clinical characteristics o…
View article: <scp>MicroRNAs</scp> as serum biomarkers in Becker muscular dystrophy
<span>MicroRNAs</span> as serum biomarkers in Becker muscular dystrophy Open
Becker muscular dystrophy (BMD) is an X‐linked neuromuscular disorder due to mutation in the DMD gene, encoding dystrophin. Despite a wide clinical variability, BMD is characterized by progressive muscle degeneration and proximal muscle we…
View article: New Insights into Cerebral Vessel Disease Landscapes at Single-Cell Resolution: Pathogenetic and Therapeutic Perspectives
New Insights into Cerebral Vessel Disease Landscapes at Single-Cell Resolution: Pathogenetic and Therapeutic Perspectives Open
Cerebrovascular diseases are a leading cause of death and disability globally. The development of new therapeutic targets for cerebrovascular diseases (e.g., ischemic, and hemorrhagic stroke, vascular dementia) is limited by a lack of know…