Laura Pozzi
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View article: Justice as care: embedding legal services into HIV care to address health-harming legal needs
Justice as care: embedding legal services into HIV care to address health-harming legal needs Open
People with HIV face a constellation of social and structural barriers, including unstable housing, discrimination, lack of identification documents, immigration issues, and denial of public benefits, that impede access to and retention in…
View article: The Ten Dietary Commandments for Patients with Irritable Bowel Syndrome: A Narrative Review with Pragmatic Indications
The Ten Dietary Commandments for Patients with Irritable Bowel Syndrome: A Narrative Review with Pragmatic Indications Open
Irritable bowel syndrome (IBS) is a gut–brain axis chronic disorder, characterized by recurrent abdominal pain and altered bowel habits in the absence of organic pathology. Nutrition plays a central role in symptom management, yet no singl…
View article: Malnutrition Triggers Immune Imbalance Through Neutrophils, T Cell Dysfunction and Microbiota Changes
Malnutrition Triggers Immune Imbalance Through Neutrophils, T Cell Dysfunction and Microbiota Changes Open
View article: Update on recent advances in amyotrophic lateral sclerosis
Update on recent advances in amyotrophic lateral sclerosis Open
View article: Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia—clinical features and neuroimaging correlates
Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia—clinical features and neuroimaging correlates Open
View article: A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report
A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report Open
Objectives We report the clinical presentation and evolution of a case with a novel Progranulin gene ( GRN ) mutation and non-fluent language disturbances at onset. Materials and methods A 60 year-old, white patient was followed due to a h…
View article: Clinical Features and Biomarkers to Differentiate Primary and Amyotrophic Lateral Sclerosis in Patients With an Upper Motor Neuron Syndrome
Clinical Features and Biomarkers to Differentiate Primary and Amyotrophic Lateral Sclerosis in Patients With an Upper Motor Neuron Syndrome Open
NfL might help to differentiate patients with PLS from patients with ALS and to predict prognosis in patients with UMN syndrome.
View article: A Roadmap to Strengthen Geoscience Education for Sustainable Development in Kenya
A Roadmap to Strengthen Geoscience Education for Sustainable Development in Kenya Open
Meeting the targets of the 17 United Nations (UN) Sustainable Development Goals (SDGs) requires contributions from geoscientists. Like most countries, Kenya is faced with the triple dimensional challenge of balancing economic, social and e…
View article: Clinical and pathological findings in neurolymphomatosis: Preliminary association with gene expression profiles in sural nerves
Clinical and pathological findings in neurolymphomatosis: Preliminary association with gene expression profiles in sural nerves Open
Although inflammation appears to play a role in neurolymphomatosis (NL), the mechanisms leading to degeneration in the peripheral nervous system are poorly understood. The purpose of this exploratory study was to identify molecular pathway…
View article: Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations
Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations Open
Objective Mutations in the TARDBP gene are a rare cause of genetic motor neuron disease (MND). Morphologic MRI characteristics of MND patients carrying this mutation have been poorly described. Our objective was to investigate distinctive …
View article: NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis
NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis Open
Introduction In the last few years, different studies highlighted a significant enrichment of NEK1 loss of function (LoF) variants in amyotrophic lateral sclerosis (ALS), and an additional role for the p.Arg261His missense variant in the d…
View article: Integrated evaluation of a panel of neurochemical biomarkers to optimize diagnosis and prognosis in amyotrophic lateral sclerosis
Integrated evaluation of a panel of neurochemical biomarkers to optimize diagnosis and prognosis in amyotrophic lateral sclerosis Open
Background and purpose This study was undertaken to determine the diagnostic and prognostic value of a panel of serum biomarkers and to correlate their concentrations with several clinical parameters in a large cohort of patients with amyo…
View article: Current application of neurofilaments in amyotrophic lateral sclerosis and future perspectives
Current application of neurofilaments in amyotrophic lateral sclerosis and future perspectives Open
Motor neuron disease includes a heterogeneous group of relentless progressive neurological disorders defined and characterized by the degeneration of motor neurons. Amyotrophic lateral sclerosis is the most common and aggressive form of mo…
View article: Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study
Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study Open
International audience
View article: Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort Open
Although the genetic architecture of amyotrophic lateral sclerosis (ALS) is incompletely understood, recent findings suggest a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the a…
View article: Serum phosphorylated neurofilament heavy-chain levels reflect phenotypic heterogeneity and are an independent predictor of survival in motor neuron disease
Serum phosphorylated neurofilament heavy-chain levels reflect phenotypic heterogeneity and are an independent predictor of survival in motor neuron disease Open
View article: <i>TBK1</i>mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation
<i>TBK1</i>mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation Open
The observed frequency of TBK1 LoF variants was 1.3% (2/154), increasing up to 3.2% (5/154) by taking into account also the functional missense variants that we were able to classify as potentially pathogenic, supporting the relevan…
View article: CCDC 1453145: Experimental Crystal Structure Determination
CCDC 1453145: Experimental Crystal Structure Determination Open
An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available …