Lista de obras -

1H-NMR-based metabolomic profiling of CSF in early amyotrophic lateral sclerosis

artículo científico publicado en 2010

A clustering of conjugal amyotrophic lateral sclerosis in southeastern France.

artículo científico publicado en 2003

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

artículo científico publicado en 2015

A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis

artículo científico publicado en 2020

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

artículo científico publicado en 2017

A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability

artículo científico publicado en 2014

A pharmaco-metabolomics approach in a clinical trial of ALS: Identification of predictive markers of progression.

artículo científico publicado en 2018

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

artículo científico publicado en 2013

ALS and mercury intoxication: A relationship?

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

article

Adjunctive perampanel in refractory epilepsy: Experience at tertiary epilepsy care center in Tours

artículo científico publicado en 2016

Advances in disease-modifying pharmacotherapies for the treatment of amyotrophic lateral sclerosis

artículo científico publicado en 2020

Amyotrophic lateral sclerosis and the clinical potential of dexpramipexole

artículo científico publicado en 2012

Amyotrophic lateral sclerosis: a hormonal condition?

artículo científico

An UPLC-MSMS method to measure plasma homocysteine concentration.

artículo científico publicado en 2017

Are Carpal Tunnel Syndrome and Regional Degenerative Osteoarthritis Linked? Results of a Case-Control Study

artículo científico publicado en 2018

Are the clinical classifications for psychogenic nonepileptic seizures reliable?

artículo científico publicado en 2017

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS

article

Benign lower limb amyotrophy due to TARDBP mutation or post-polio syndrome?

artículo científico publicado en 2013

Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis

artículo científico publicado en 2015

Brait-Fahn-Schwarz disease: the missing link between ALS and Parkinson's disease

artículo científico publicado en 2014

Breast cancer and motor neuron disease: Clinical study of seven cases

article

CADASIL and ALS: a link?

artículo científico publicado en 2010

Causes of death in a post-mortem series of ALS patients

artículo científico publicado en 2008

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Co-occurrence of MS and ALS: a clue in favor of common pathophysiological findings?

artículo científico publicado en 2018

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

artículo científico publicado en 2011

Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism

artículo científico publicado en 2016

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Correction: 1H-NMR-Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2010

Could Conservative Iron Chelation Lead to Neuroprotection in Amyotrophic Lateral Sclerosis? ⬇️

artículo científico publicado en 2017

Current view and perspectives in amyotrophic lateral sclerosis

artículo científico publicado en 2017

Defining survival as an outcome measure in amyotrophic lateral sclerosis.

artículo científico publicado en 2009

Development of monoclonal antibodies to human kallikrein-related peptidase 6 (KLK6) and their use in an immunofluorometric assay for free KLK6.

artículo científico publicado en 2014

Development of permanent brain damage after subacute encephalopathy with seizures in alcoholics

artículo científico publicado en 2018

Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis

artículo científico publicado en 2015

Effect of familial clustering in the genetic screening of 235 French ALS families

artículo científico publicado en 2021

Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells

artículo científico publicado en 2009

Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis

artículo científico publicado en 2012

Emergent EEG in clinical practice.

artículo científico publicado en 2007

Environmental factors in ALS

artículo científico publicado en 2014

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment

artículo científico publicado en 2017

Functional Outcome of Hemorrhagic Transformation after Thrombolysis for Ischemic Stroke: A Prospective Study

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.

artículo científico publicado en 2013

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

artículo científico publicado en 2012

How Can a Ketogenic Diet Improve Motor Function?

artículo científico publicado en 2018

Ictal bradycardia followed by cardiac asystole: a case report

artículo científico publicado en 2002

Impaired glucose tolerance in patients with amyotrophic lateral sclerosis

artículo científico publicado en 2010

Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75.

artículo científico publicado en 2015

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis

artículo científico publicado en 2017

Initial evaluation in healthy humans of [18F]DPA-714, a potential PET biomarker for neuroinflammation

artículo científico publicado en 2011

Iron metabolism disturbance in a French cohort of ALS patients

artículo científico publicado en 2014

Is there a paraneoplastic ALS?

artículo científico

July 2017 ENCALS statement on edaravone

artículo científico publicado en 2017

Malnutrition at the time of diagnosis is associated with a shorter disease duration in ALS.

artículo científico publicado en 2010

Management and therapeutic perspectives in amyotrophic lateral sclerosis

artículo científico publicado en 2016

Management of amyotrophic lateral sclerosis

artículo científico publicado en 2008

Metabolomics Biomarkers: A Strategy Toward Therapeutics Improvement in ALS

Metabolomics in Cerebrospinal Fluid of Patients with Amyotrophic Lateral Sclerosis: An Untargeted Approach via High-Resolution Mass Spectrometry

Molecular imaging of microglial activation in amyotrophic lateral sclerosis

artículo científico publicado en 2012

Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices

artículo científico publicado en 2010

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.

artículo científico publicado en 2017

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

scientific article published on 01 October 2008

N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation

artículo científico publicado en 2003

NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity.

artículo científico publicado en 2016

Nerve Biopsy Is Still Useful in Some Inherited Neuropathies

artículo científico publicado en 2017

New therapy options for amyotrophic lateral sclerosis

artículo científico

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.

artículo científico publicado en 2013

Occurrence of eye movement disorders in motor neuron disease

article by Emilie Beaufils et al published 25 November 2011 in Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism.

artículo científico publicado en 2016

Panel of Oxidative Stress and Inflammatory Biomarkers in ALS: A Pilot Study.

artículo científico publicado en 2016

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease

artículo científico publicado en 2014

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

artículo científico publicado en 2018

Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

Progression in ALS is not linear but is curvilinear

artículo científico publicado en 2010

Protein SUMOylation, an emerging pathway in amyotrophic lateral sclerosis

artículo científico

Pseudo spastic gait can reveal a Stiff Leg Syndrome (SLS)

Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene

article

Pure cerebellar ataxia linked to large C9orf72 repeat expansion

Reconsidering the causality of TIA1 mutations in ALS.

artículo científico publicado en 2017

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

article

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis

artículo científico publicado en 2016

Sleep disturbances in variant of Creutzfeldt-Jakob disease

artículo científico publicado en 2008

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

artículo científico publicado en 2022

The Metabolic Disturbances of Motoneurons Exposed to Glutamate.

artículo científico publicado en 2018

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis

article

The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls

The evolution of infrahissian conduction time in myotonic dystrophy patients: clinical implications

artículo científico publicado en 2011

The high frequency of restless legs syndrome in patients with amyotrophic lateral sclerosis.

artículo científico publicado en 2011

The importance of the SMN genes in the genetics of sporadic ALS.

artículo científico publicado en 2009

Therapeutic options and management of polyneuropathy associated with anti-MAG antibodies

artículo científico publicado en 2016

Typical bulbar ALS can be linked to GARS mutation

artículo científico publicado en 2019

Untargeted 1H-NMR metabolomics in CSF: toward a diagnostic biomarker for motor neuron disease

artículo científico publicado en 2014

Value of nerve biopsy in patients with latent malignant hemopathy and peripheral neuropathy: a case series

artículo científico publicado en 2015

Vitamin D is Not a Protective Factor in ALS.

artículo científico publicado en 2015

Wildtype motoneurons, ALS-Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling.

artículo científico publicado en 2017

Lista de obras de

1H-NMR-based metabolomic profiling of CSF in early amyotrophic lateral sclerosis

A clustering of conjugal amyotrophic lateral sclerosis in southeastern France.

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability

A pharmaco-metabolomics approach in a clinical trial of ALS: Identification of predictive markers of progression.

A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.

ALS and mercury intoxication: A relationship?

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

Adjunctive perampanel in refractory epilepsy: Experience at tertiary epilepsy care center in Tours

Advances in disease-modifying pharmacotherapies for the treatment of amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis and the clinical potential of dexpramipexole

Amyotrophic lateral sclerosis: a hormonal condition?

An UPLC-MSMS method to measure plasma homocysteine concentration.

Are Carpal Tunnel Syndrome and Regional Degenerative Osteoarthritis Linked? Results of a Case-Control Study

Are the clinical classifications for psychogenic nonepileptic seizures reliable?

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS

Benign lower limb amyotrophy due to TARDBP mutation or post-polio syndrome?

Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis

Brait-Fahn-Schwarz disease: the missing link between ALS and Parkinson's disease

Breast cancer and motor neuron disease: Clinical study of seven cases

CADASIL and ALS: a link?

Causes of death in a post-mortem series of ALS patients

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Co-occurrence of MS and ALS: a clue in favor of common pathophysiological findings?

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Correction: 1H-NMR-Based Metabolomic Profiling of CSF in Early Amyotrophic Lateral Sclerosis.

Could Conservative Iron Chelation Lead to Neuroprotection in Amyotrophic Lateral Sclerosis? ⬇️

Current view and perspectives in amyotrophic lateral sclerosis

Defining survival as an outcome measure in amyotrophic lateral sclerosis.

Development of monoclonal antibodies to human kallikrein-related peptidase 6 (KLK6) and their use in an immunofluorometric assay for free KLK6.

Development of permanent brain damage after subacute encephalopathy with seizures in alcoholics

Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis

Effect of familial clustering in the genetic screening of 235 French ALS families

Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells

Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis

Emergent EEG in clinical practice.

Environmental factors in ALS

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment

Functional Outcome of Hemorrhagic Transformation after Thrombolysis for Ischemic Stroke: A Prospective Study

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

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

How Can a Ketogenic Diet Improve Motor Function?

Ictal bradycardia followed by cardiac asystole: a case report

Impaired glucose tolerance in patients with amyotrophic lateral sclerosis

Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75.

Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis

Initial evaluation in healthy humans of [18F]DPA-714, a potential PET biomarker for neuroinflammation

Iron metabolism disturbance in a French cohort of ALS patients

Is there a paraneoplastic ALS?

July 2017 ENCALS statement on edaravone

Malnutrition at the time of diagnosis is associated with a shorter disease duration in ALS.

Management and therapeutic perspectives in amyotrophic lateral sclerosis

Management of amyotrophic lateral sclerosis

Metabolomics Biomarkers: A Strategy Toward Therapeutics Improvement in ALS

Metabolomics in Cerebrospinal Fluid of Patients with Amyotrophic Lateral Sclerosis: An Untargeted Approach via High-Resolution Mass Spectrometry

Molecular imaging of microglial activation in amyotrophic lateral sclerosis

Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation

NSC-34 Motor Neuron-Like Cells Are Unsuitable as Experimental Model for Glutamate-Mediated Excitotoxicity.

Nerve Biopsy Is Still Useful in Some Inherited Neuropathies

New therapy options for amyotrophic lateral sclerosis

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.

Occurrence of eye movement disorders in motor neuron disease

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism.

Panel of Oxidative Stress and Inflammatory Biomarkers in ALS: A Pilot Study.

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

Progression in ALS is not linear but is curvilinear