Cinzia Bertolin
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View article: NT-proBNP to guide risk stratification after cardiac rehabilitation in patients with ST-segment elevation myocardial infarction
NT-proBNP to guide risk stratification after cardiac rehabilitation in patients with ST-segment elevation myocardial infarction Open
Even after comprehensive adjustment, NT-proBNP emerges as a potent, accessible and inexpensive tool for risk stratification of STEMI patients after completion of rehabilitation programs.
View article: Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker Open
Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology …
View article: Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy
Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy Open
View article: Non-Motor Symptoms in Primary Familial Brain Calcification
Non-Motor Symptoms in Primary Familial Brain Calcification Open
Background/Objectives: Primary Familial Brain Calcification is a rare neurodegenerative disorder of adulthood characterized by calcium deposition in the basal ganglia and other brain areas; the main clinical manifestations include movement…
View article: <i>TP53</i> DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification
<i>TP53</i> DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification Open
Not available.
View article: The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) Open
View article: Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Open
Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a sev…
View article: Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis Open
These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
View article: Specific heterozygous frameshift variants in <i>hnRNPA2B1</i> cause early-onset oculopharyngeal muscular dystrophy
Specific heterozygous frameshift variants in <i>hnRNPA2B1</i> cause early-onset oculopharyngeal muscular dystrophy Open
Summary RNA-binding proteins (RBPs) are essential for post-transcriptional regulation and processing of RNAs. Pathogenic missense variants in RBPs underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontote…
View article: Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Open
View article: A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis Open
Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.
View article: Brain MRI shows white matter sparing in Kennedy's disease and slow‐progressing lower motor neuron disease
Brain MRI shows white matter sparing in Kennedy's disease and slow‐progressing lower motor neuron disease Open
The extent of central nervous system involvement in Kennedy's disease (KD) relative to other motor neuron disease (MND) phenotypes still needs to be clarified. In this study, we investigated cortical and white matter (WM) MRI alterations i…
View article: Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy Open
While muscle damage and muscle mass biomarkers are abnormal in SBMA, axonal damage markers are unchanged, highlighting the relevant primary role of skeletal muscle in disease pathogenesis. Creatinine, but not CK, correlated with disease se…
View article: Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region
Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region Open
Background and purpose Literature data on spinal and bulbar muscular atrophy ( SBMA ) epidemiology are limited and restricted to specific populations. The aim of our study was to accurately collect information about SBMA patients living in…
View article: Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study
Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study Open
View article: Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice Open
Mutations in FUS are causative for amyotrophic lateral sclerosis with a dominant mode of inheritance. In trying to model FUS-amyotrophic lateral sclerosis (ALS) in mouse it is clear that FUS is dosage-sensitive and effects arise from overe…
View article: The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case
The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case Open
View article: Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients Open
Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.
View article: TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations Open
View article: Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Open
This study expands the spectrum of phenotype in β-sarcoglycanopathy and provides strong evidence that severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan protein expression.