Adriano Chio’

Adriano Chio’

ALS Center, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Torino, Italy | Rita Levi Montalcini' Department of Neuroscience, University of ...

KOL Resume for Adriano Chio’  (disease, motor, muscular, motor neuron disease, spinal, neuron, atrophy)


ALS Center, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Torino, Italy

Consiglio Nazionale delle Ricerche

University of Turin


ALS Centre, "Rita Levi Montalcini" Department of Neuroscience, University of Torino, Turin, Italy.

Department of Neuroscience, Molinette Hospital, Turin, Italy

These authors jointly supervised this work.


Prominent publications by Adriano Chio’

KOL Index score: 17139

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing ...

Known for Repeat Expansion |  Amyotrophic Lateral |  Clinical Characteristics |  Patients Mutations |  Sclerosis C9orf72
KOL Index score: 13162

BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

METHODS: We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial ...

Known for Repeat Expansion |  Frontotemporal Dementia |  Amyotrophic Lateral Sclerosis |  C9orf72 Hexanucleotide |  Familial Ftd
KOL Index score: 12109

IMPORTANCE: There is an urgent need to identify reliable biomarkers of amyotrophic lateral sclerosis (ALS) progression for clinical practice and pharmacological trials.

OBJECTIVES: To correlate several hematological markers evaluated at diagnosis with ALS outcome in a population-based series of patients (discovery cohort) and replicate the findings in an independent validation cohort from an ALS tertiary center.

DESIGN, SETTING, AND PARTICIPANTS: The discovery cohort included 712 ...

Known for Amyotrophic Lateral Sclerosis |  Serum Albumin |  Discovery Cohort |  Fatfree Mass |  712 Patients
KOL Index score: 12015

OBJECTIVE: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the sequestosome 1 (SQSTM1) gene, which encodes p62 protein, have been reported in patients with ALS. P62 is a multifunctional adapter protein mainly involved in selective autophagy, oxidative stress response, and cell signaling pathways. The purpose of our study was to evaluate the frequency of SQSTM1 ...

Known for Sqstm1 Mutations |  Ftld Patients |  Amyotrophic Lateral |  Frontotemporal Lobar |  P62 Protein
KOL Index score: 12011

Abstract.The possible relationship between Guillain-Barré syndrome

(GBS) and cancer is still controversial and the existence of a

paraneoplastic GBS remains unconfirmed. To better define whether

there is a relationship between GBS and malignancy, we compared

the observed and the expected number of patients with tumours in

a population-based cohort of subjects with GBS. Clinical

differences between GBS patients with or without malignancies

were analysed. Data were obtained from the ...

Known for Gbs Cancer |  Barré Syndrome |  Patients Guillain |  Studies Retrospective |  Criteria Paraneoplastic
KOL Index score: 11639

OBJECTIVE: To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations.

DESIGN: Population-based, prospective cohort study.

PATIENTS: A total of 135 Sardinian patients with ALS and 156 healthy control subjects of Sardinian origin who were age- and sex-matched to patients.

INTERVENTION: Patients underwent mutational analysis for ...

Known for Tardbp Gene |  Amyotrophic Lateral |  Founder Mutation |  Large Proportion |  Sclerosis Cases
KOL Index score: 11326

OBJECTIVE: Substantial clinical, pathological, and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansion in C9orf72 was identified as the causal variant in a proportion of ALS and FTD cases. We sought to identify additional evidence for a common genetic basis for the spectrum of ALS-FTD.

METHODS: We used published genome-wide association ...

Known for Frontotemporal Dementia |  Amyotrophic Lateral |  Ftd Unc13a |  Repeat Expansion |  Risk Loci
KOL Index score: 11029

BACKGROUND: TAR DNA-binding protein 43, encoded by the TARDBP gene, has been identified as the major pathological protein of frontotemporal lobar dementia (FTLD) with or without amyotrophic lateral sclerosis (ALS) and sporadic ALS. Subsequently, mutations in the TARDBP gene have been detected in 2% to 3% of patients with ALS (both familial and sporadic ALS). However, to our knowledge, there is only 1 description of 2 patients with FTLD and TARDBP gene mutations who later developed motor ...

Known for Tardbp Mutations |  Amyotrophic Lateral Sclerosis |  Frontotemporal Lobar |  Missense Mutation |  Familial Sporadic
KOL Index score: 10717

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons that results in progressive weakness and death from respiratory failure, commonly within about 3 years. Previous studies have shown association of a locus on chromosome 9p with ALS and linkage with ALS-frontotemporal dementia. We aimed to test whether this genomic region is also associated with ALS in an independent set of UK samples, and to identify risk factors associated with ALS in a ...

Known for Chromosome 9p |  Sporadic Amyotrophic |  Lateral Sclerosis |  Genome Wide |  Motor Neurons
KOL Index score: 10547

BACKGROUND: There is less data available regarding the characteristics of cognitive impairment in patients with amyotrophic lateral sclerosis (ALS) in a population-based series.

METHODOLOGY: Patients with ALS incident in Piemonte, Italy, between 2009 and 2011 underwent an extensive neuropsychological battery. Cognitive status was classified as follows: normal cognition, frontotemporal dementia (ALS-FTD), executive cognitive impairment (ALS-ECI), non-executive cognitive impairment ...

Known for Cognitive Impairment Patients |  Amyotrophic Lateral Sclerosis |  Alsbi Alsftd |  C9orf72 Mutation |  Normal Cognition
KOL Index score: 10191

PurposeTo identify the neurobiological traits of amyotrophic lateral sclerosis (ALS) and to elucidate functional differences between ALS of spinal and bulbar onset. We hypothesized that glucose metabolism distribution might vary between groups.MethodsThe study groups comprised 32 patients with ALS of either bulbar (n = 13) or spinal (n = 19) onset and 22 subjects as controls. They were investigated by [18F]fluorodeoxyglucose (FDG) positron emission tomography (FDG PET), comparing the ...

Known for Bulbar Onset |  Fdg Pet |  Amyotrophic Lateral Sclerosis |  Patients Spinal |  Compared Controls
KOL Index score: 10188

PURPOSE: In amyotrophic lateral sclerosis, functional alterations within the brain have been intensively assessed, while progression of lower motor neuron damage has scarcely been defined. The aim of the present study was to develop a computational method to systematically evaluate spinal cord metabolism as a tool to monitor disease mechanisms.

METHODS: A new computational three-dimensional method to extract the spinal cord from (18)F-FDG PET/CT images was evaluated in 30 patients with ...

Known for Spinal Cord |  Amyotrophic Lateral Sclerosis |  Fluorodeoxyglucose F18 |  Computational Method |  30 Patients
KOL Index score: 10051

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H ...

Known for Vcp Mutations |  Exome Sequencing |  Motor Neuron Degeneration |  Adenosine Triphosphatases |  Paget Disease
KOL Index score: 9983

BACKGROUND: Amyotrophic lateral sclerosis shares characteristics with some cancers, such as onset being more common in later life, progression usually being rapid, the disease affecting a particular cell type, and showing complex inheritance. We used a model originally applied to cancer epidemiology to investigate the hypothesis that amyotrophic lateral sclerosis is a multistep process.

METHODS: We generated incidence data by age and sex from amyotrophic lateral sclerosis population ...

Known for Amyotrophic Lateral Sclerosis |  Multistep Process |  Log Age |  Linear Relationship |  Ireland Italy


Adriano Chio’: Influence Statistics

Sample of concepts for which Adriano Chio’ is among the top experts in the world.
Concept World rank
sardinian ftd #1
pumn #1
backgroundamyotrophic #1
diseases findings #1
piemonte regions #1
vessel density oligodendroglioma #1
diagnosis prognostic role #1
patients category alscbi #1
spinal cord hypermetabolism #1
136348 #1
epidemiological register #1
oligodendrogliomas immunohistochemistry ki67 #1
prognostic role fvc #1
function alsfrs #1
ftd cases cohort #1
wtals #1
fus band intensity #1
factorial design spm12 #1
adult childhood cases #1
tdp‐43 subcellular distribution #1
alsmitos loss #1
physicians psychoexistential suffering #1
circulating lymphomonocytes #1
fvc svc values #1
gbm gbo #1
italy alsftd #1
genes genetic testing #1
frontotemporal dementia aggregation #1
nsuv patients #1
deviance total #1
patients populationbased controls #1
wiv shared europe #1
cytoplasm molecular weight #1
mechanical invasive ventilation #1
vital capacity cutoffs #1
constructional apraxia ftd #1
fvc disease duration #1
patient stratification levels #1
abg parameters survival #1
general neurological clinics #1
scientific film #1
iqr polyq #1
uncertainties clinical suggestions #1
svcresultsa #1
sex factors pma #1
italian version ecas #1
controls spatial ica #1
brain metabolic apathy #1
training irish test #1
heterozygous optn variant #1

Key People For Amyotrophic Lateral Sclerosis

Top KOLs in the world
Adriano Chio’
amyotrophic lateral sclerosis frontotemporal dementia motor neuron disease
Peter Nigel Leigh
amyotrophic lateral sclerosis motor neuron disease angular complex
Orla M Hardiman
amyotrophic lateral sclerosis polio survivors caregiver burden
Pamela Jean Shaw
amyotrophic lateral sclerosis motor neuron disease spinal cord
Benjamin Rix Brooks
amyotrophic lateral sclerosis spinal cord leukemia virus
AlChalabi Al‐Chalabi
amyotrophic lateral sclerosis frontotemporal dementia repeat expansion

Adriano Chio’:Expert Impact

Concepts for whichAdriano Chio’has direct influence:Amyotrophic lateral sclerosis,  Amyotrophic lateral,  Lateral sclerosis,  Frontotemporal dementia,  Motor neuron disease,  Cognitive impairment.

Adriano Chio’:KOL impact

Concepts related to the work of other authors for whichfor which Adriano Chio’ has influence:Amyotrophic lateral sclerosis,  Neurodegenerative diseases,  Frontotemporal dementia,  Motor neurons,  Spinal cord,  Repeat expansion,  Oxidative stress.



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ALS Center, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Torino, Italy | Rita Levi Montalcini' Department of Neuroscience, University of Turin, Torino, Italy | Rita Levi Montalcini Department of Neuroscience, ALS Ce

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