Lista de obras - Jessica Mandrioli - Dominio Público Uruguay

A further Rasch study confirms that ALSFRS-R does not conform to fundamental measurement requirements.

artículo científico publicado en 2015

A multifactorial prognostic index in multiple sclerosis. Cerebrospinal fluid IgM oligoclonal bands and clinical features to predict the evolution of the disease

artículo científico publicado en 2008

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.

artículo científico publicado en 2010

A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment

artículo científico publicado en 2020

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2009

ALS and FTD: Where RNA metabolism meets protein quality control

scientific article published on 01 July 2019

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

artículo científico publicado en 2015

Acute hemichorea as unusual first multiple sclerosis presentation.

artículo científico publicado en 2017

Amyotrophic lateral sclerosis and myasthenia gravis: association or chance occurrence?

artículo científico publicado en 2016

Amyotrophic lateral sclerosis and sarcoidosis: A difficult differential diagnosis

Amyotrophic lateral sclerosis: a comparison of two staging systems in a population-based study.

artículo científico publicado en 2016

Amyotrophic lateral sclerosis: prognostic indicators of survival.

artículo científico publicado en 2006

Are environmental exposures to selenium, heavy metals, and pesticides risk factors for amyotrophic lateral sclerosis?

artículo científico publicado en 2012

Bilateral posterior medullary and cervical stroke: a case report.

artículo científico publicado en 2006

Bilateral vocal cord paralysis: a rare onset of amyotrophic lateral sclerosis

scientific article published on 01 July 2010

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

artículo científico publicado en 2012

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2015

Central pontine myelinolysis and poorly controlled diabetes: MRI's hints for pathogenesis.

artículo científico publicado en 2017

Cerebrospinal Fluid Neurofilaments May Discriminate Upper Motor Neuron Syndromes: A Pilot Study

scientific article published on 14 November 2018

Cerebrospinal fluid of newly diagnosed amyotrophic lateral sclerosis patients exhibits abnormal levels of selenium species including elevated selenite.

artículo científico publicado en 2013

Changes in routine laboratory tests and survival in amyotrophic lateral sclerosis

artículo científico publicado en 2017

Changing incidence and subtypes of ALS in Modena, Italy: A 10-years prospective study.

artículo científico publicado en 2011

Clinical and Lifestyle Factors and Risk of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

artículo científico publicado en 2020

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

artículo científico publicado en 2012

Comment on 'Huntington's disease presenting as ALS'.

artículo científico publicado en 2010

Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort

artículo científico publicado en 2017

Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients

scientific article published on 17 May 2019

Correction to: epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): a population based study

artículo científico publicado en 2014

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

artículo científico publicado en 2004

Decreased Levels of Foldase and Chaperone Proteins Are Associated with an Early-Onset Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2017

Do flavan-3-ols from green tea reach the human brain?

artículo científico publicado en 2006

Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations

artículo científico publicado en 2017

Endozepines in recurrent stupor

artículo científico publicado en 2005

Environmental and Occupational Risk Factors of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

scientific article published on 22 April 2020

Epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): A population based study

artículo científico publicado en 2014

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study

artículo científico publicado en 2015

Exome sequencing reveals VCP mutations as a cause of familial ALS

artículo científico publicado en 2010

Exposure to pesticides and risk of amyotrophic lateral sclerosis: a population-based case-control study.

artículo científico publicado en 2010

Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

artículo científico publicado en 2015

FUS mutations in sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2010

Factors predicting survival in ALS: a multicenter Italian study

artículo científico publicado en 2016

Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients

article

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

artículo científico publicado en 2012

G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation

artículo científico publicado en 2022

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

artículo científico

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

artículo científico publicado en 2018

HFE p.H63D polymorphism does not influence ALS phenotype and survival

artículo científico publicado en 2015

Heterogeneity in ALSFRS-R decline and survival: a population-based study in Italy

artículo científico publicado en 2015

High-frequency motor rehabilitation in amyotrophic lateral sclerosis: a randomized clinical trial

artículo científico publicado en 2019

Hsp90-mediated regulation of DYRK3 couples stress granule disassembly and growth via mTORC1 signaling

artículo científico publicado en 2021

Internal carotid artery dissection: a rare cause of peripheral facial nerve palsy

artículo científico publicado en 2012

Isolated Hypoglossal nerve palsy due to amyloid cervical arthropathy in long term hemodialysis

artículo científico publicado en 2006

Isolated progressive cognitive impairment and depression in a patient with neuroradiological features suggestive of multiple sclerosis

artículo científico publicado en 2011

Lead, cadmium and mercury in cerebrospinal fluid and risk of amyotrophic lateral sclerosis: A case-control study.

artículo científico publicado en 2017

Magnetic fields exposure from high-voltage power lines and risk of amyotrophic lateral sclerosis in two Italian populations

artículo científico publicado en 2017

Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial

artículo científico publicado en 2019

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

artículo científico publicado en 2017

Middle cerebral artery thrombosis in course of parvovirus B19 infection in a young adult: A new risk factor for stroke?

artículo científico publicado en 2004

Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy

artículo científico publicado en 2007

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution

artículo científico publicado en 2016

Mutational analysis of the VCP gene in Parkinson's disease

artículo científico publicado en 2011

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

artículo científico publicado en 2020

Neurogenic T wave inversion in pure left insular stroke associated with hyperhomocysteinaemia.

artículo científico publicado en 2004

New insights into the viral theory of amyotrophic lateral sclerosis: study on the possible role of Kaposi's sarcoma-associated virus/human herpesvirus 8.

artículo científico publicado en 2002

Noninvasive and invasive ventilation and enteral nutrition for ALS in Italy

artículo científico publicado en 2014

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels

artículo científico publicado en 2013

Pearls & Oy-sters: Paroxysmal dysarthria-ataxia syndrome: Acoustic analysis in a case of antiphospholipid syndrome

scientific article published on 01 June 2019

Pearls & Oy-sters: rapidly progressive dementia: prions or immunomediated?

artículo científico publicado en 2014

Percutaneous endoscopic gastrostomy, body weight loss and survival in amyotrophic lateral sclerosis: a population-based registry study

artículo científico publicado en 2017

Pesticide exposure assessed through agricultural crop proximity and risk of amyotrophic lateral sclerosis

artículo científico publicado en 2017

Pesticides, polychlorinated biphenyls and polycyclic aromatic hydrocarbons in cerebrospinal fluid of amyotrophic lateral sclerosis patients: a case-control study.

artículo científico

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

artículo científico publicado en 2013

Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis

scientific article published on 06 June 2014

Post-infectious sensory neuropathy with anti-GT1a and GQ1b antibodies associated with cold urticaria

scientific article published on 06 July 2018

Primary progressive multiple sclerosis and generalized myasthenia gravis: an uncommon association

artículo científico publicado en 2010

Primary progressive versus relapsing-onset multiple sclerosis: presence and prognostic value of cerebrospinal fluid oligoclonal IgM.

artículo científico publicado en 2010

Protein misfolding, amyotrophic lateral sclerosis and guanabenz: protocol for a phase II RCT with futility design (ProMISe trial).

artículo científico

Radiotherapy treatment of the salivary glands, sialorrhea, and non-invasive mechanical ventilation in amyotrophic lateral sclerosis: what are we doing?

artículo científico publicado en 2016

Rapamycin treatment for amyotrophic lateral sclerosis: Protocol for a phase II randomized, double-blind, placebo-controlled, multicenter, clinical trial (RAP-ALS trial).

artículo científico publicado en 2018

Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies.

artículo científico publicado en 2010

Recurrent cerebrospinal fluid basophilia in neurosarcoidosis

artículo científico publicado en 2014

Redox speciation of iron, manganese, and copper in cerebrospinal fluid by strong cation exchange chromatography - sector field inductively coupled plasma mass spectrometry

artículo científico publicado en 2017

Reduced levels of alpha-1-antitrypsin in cerebrospinal fluid of amyotrophic lateral sclerosis patients: a novel approach for a potential treatment

artículo científico publicado en 2016

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

artículo científico publicado en 2012

Reply to Comment on "Environmental and Occupational Risk Factors of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study"

scientific article published on 07 September 2020

Riluzole and other prognostic factors in ALS: a population-based registry study in Italy

artículo científico publicado en 2018

Selenium neurotoxicity in humans: bridging laboratory and epidemiologic studies

artículo científico publicado en 2014

Sensory Loss Mimicking Cauda Equina Syndrome due to Cervical Spinal Lesion in a Patient with Clinically Isolated Syndrome

artículo científico publicado en 2012

Serial ultrasound assessment of diaphragmatic function and clinical outcome in patients with amyotrophic lateral sclerosis

artículo científico publicado en 2019

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

artículo científico publicado en 2019

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

artículo científico publicado en 2015

Teaching NeuroImage: When right atrial myxoma meets patent foramen ovale: a case of paradoxical brain embolism.

artículo científico publicado en 2008

TeleNeurological evaluation and Support for the Emergency Department (TeleNS-ED): protocol for an open-label clinical trial

artículo científico publicado en 2021

Tetrodotoxin-Sensitive Neuronal-Type Na+ Channels: A Novel and Druggable Target for Prevention of Atrial Fibrillation

artículo científico publicado en 2020

The epidemiology of ALS in Modena, Italy

artículo científico publicado en 2003

The impact of clinical factors, riluzole and therapeutic interventions on ALS survival: A population based study in Modena, Italy

article

The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

artículo científico publicado en 2016

Tolosa-Hunt syndrome due to actinomycosis of the cavernous sinus: the infectious hypothesis revisited

artículo científico publicado en 2004

Total antioxidant capacity of cerebrospinal fluid is decreased in patients with motor neuron disease

artículo científico publicado en 2006

Traumatic intracystic hemorrhage in a case with thalamo-mesencephalic 'expanding lacunae': an uncommon cause of sudden-onset neurological signs

artículo científico publicado en 2003

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

artículo científico publicado en 2009

Ultrasound assessment of diaphragmatic function in patients with amyotrophic lateral sclerosis

artículo científico publicado en 2016

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2012

Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset

artículo científico publicado en 2013

Lista de obras de Jessica Mandrioli

A further Rasch study confirms that ALSFRS-R does not conform to fundamental measurement requirements.

A multifactorial prognostic index in multiple sclerosis. Cerebrospinal fluid IgM oligoclonal bands and clinical features to predict the evolution of the disease

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.

A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

ALS and FTD: Where RNA metabolism meets protein quality control

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

Acute hemichorea as unusual first multiple sclerosis presentation.

Amyotrophic lateral sclerosis and myasthenia gravis: association or chance occurrence?

Amyotrophic lateral sclerosis and sarcoidosis: A difficult differential diagnosis

Amyotrophic lateral sclerosis: a comparison of two staging systems in a population-based study.

Amyotrophic lateral sclerosis: prognostic indicators of survival.

Are environmental exposures to selenium, heavy metals, and pesticides risk factors for amyotrophic lateral sclerosis?

Bilateral posterior medullary and cervical stroke: a case report.

Bilateral vocal cord paralysis: a rare onset of amyotrophic lateral sclerosis

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Central pontine myelinolysis and poorly controlled diabetes: MRI's hints for pathogenesis.

Cerebrospinal Fluid Neurofilaments May Discriminate Upper Motor Neuron Syndromes: A Pilot Study

Cerebrospinal fluid of newly diagnosed amyotrophic lateral sclerosis patients exhibits abnormal levels of selenium species including elevated selenite.

Changes in routine laboratory tests and survival in amyotrophic lateral sclerosis

Changing incidence and subtypes of ALS in Modena, Italy: A 10-years prospective study.

Clinical and Lifestyle Factors and Risk of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Comment on 'Huntington's disease presenting as ALS'.

Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort

Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients

Correction to: epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): a population based study

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

Decreased Levels of Foldase and Chaperone Proteins Are Associated with an Early-Onset Amyotrophic Lateral Sclerosis.

Do flavan-3-ols from green tea reach the human brain?

Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations

Endozepines in recurrent stupor

Environmental and Occupational Risk Factors of Amyotrophic Lateral Sclerosis: A Population-Based Case-Control Study

Epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): A population based study

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study

Exome sequencing reveals VCP mutations as a cause of familial ALS

Exposure to pesticides and risk of amyotrophic lateral sclerosis: a population-based case-control study.

Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

FUS mutations in sporadic amyotrophic lateral sclerosis

Factors predicting survival in ALS: a multicenter Italian study

Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

HFE p.H63D polymorphism does not influence ALS phenotype and survival

Heterogeneity in ALSFRS-R decline and survival: a population-based study in Italy

High-frequency motor rehabilitation in amyotrophic lateral sclerosis: a randomized clinical trial

Hsp90-mediated regulation of DYRK3 couples stress granule disassembly and growth via mTORC1 signaling

Internal carotid artery dissection: a rare cause of peripheral facial nerve palsy

Isolated Hypoglossal nerve palsy due to amyloid cervical arthropathy in long term hemodialysis

Isolated progressive cognitive impairment and depression in a patient with neuroradiological features suggestive of multiple sclerosis

Lead, cadmium and mercury in cerebrospinal fluid and risk of amyotrophic lateral sclerosis: A case-control study.

Magnetic fields exposure from high-voltage power lines and risk of amyotrophic lateral sclerosis in two Italian populations

Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Middle cerebral artery thrombosis in course of parvovirus B19 infection in a young adult: A new risk factor for stroke?

Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution

Mutational analysis of the VCP gene in Parkinson's disease

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

Neurogenic T wave inversion in pure left insular stroke associated with hyperhomocysteinaemia.

New insights into the viral theory of amyotrophic lateral sclerosis: study on the possible role of Kaposi's sarcoma-associated virus/human herpesvirus 8.

Noninvasive and invasive ventilation and enteral nutrition for ALS in Italy

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels

Pearls & Oy-sters: Paroxysmal dysarthria-ataxia syndrome: Acoustic analysis in a case of antiphospholipid syndrome

Pearls & Oy-sters: rapidly progressive dementia: prions or immunomediated?

Percutaneous endoscopic gastrostomy, body weight loss and survival in amyotrophic lateral sclerosis: a population-based registry study

Pesticide exposure assessed through agricultural crop proximity and risk of amyotrophic lateral sclerosis

Pesticides, polychlorinated biphenyls and polycyclic aromatic hydrocarbons in cerebrospinal fluid of amyotrophic lateral sclerosis patients: a case-control study.

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis

Post-infectious sensory neuropathy with anti-GT1a and GQ1b antibodies associated with cold urticaria

Primary progressive multiple sclerosis and generalized myasthenia gravis: an uncommon association

Primary progressive versus relapsing-onset multiple sclerosis: presence and prognostic value of cerebrospinal fluid oligoclonal IgM.

Protein misfolding, amyotrophic lateral sclerosis and guanabenz: protocol for a phase II RCT with futility design (ProMISe trial).

Radiotherapy treatment of the salivary glands, sialorrhea, and non-invasive mechanical ventilation in amyotrophic lateral sclerosis: what are we doing?

Rapamycin treatment for amyotrophic lateral sclerosis: Protocol for a phase II randomized, double-blind, placebo-controlled, multicenter, clinical trial (RAP-ALS trial).